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
PRKCZ	5590	broad.mit.edu	37	1	2077510	2077510	+	Silent	SNP	C	C	T	rs150712752		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2077510C>T	uc001aiq.2	+	7	758	c.597C>T	c.(595-597)AAC>AAT	p.N199N	PRKCZ_uc001air.2_Silent_p.N16N|PRKCZ_uc010nyw.1_Silent_p.N95N|PRKCZ_uc001ais.2_Silent_p.N16N|PRKCZ_uc009vla.2_Silent_p.N23N|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.N12N	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	199					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)		ACGACAAGAACGAGGACGCCG	0.577		NA											24	51					0	0	0	0
MMEL1	79258	broad.mit.edu	37	1	2523445	2523445	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2523445C>G	uc001ajy.2	-	22	2303	c.2089G>C	c.(2089-2091)GAG>CAG	p.E697Q	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	697	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGCCACCCTCTGCCATCCAC	0.627		NA											28	48					0	0	0	0
PRDM16	63976	broad.mit.edu	37	1	3334404	3334404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:3334404G>T	uc001akf.2	+	11	2784	c.2704G>T	c.(2704-2706)GAG>TAG	p.E902*	PRDM16_uc001akc.2_Nonsense_Mutation_p.E901*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E901*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E902*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E602*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	902	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				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)		GTCAGCCATAGAGACCATGAC	0.592		NA	T	EVI1	MDS|AML								59	226					1.14e-29	1.26e-29	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6528529	6528529	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:6528529G>C	uc001ano.1	-	21	2636	c.2535C>G	c.(2533-2535)CTC>CTG	p.L845L	PLEKHG5_uc001ann.1_Silent_p.L826L|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Silent_p.L866L|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.L350L|PLEKHG5_uc009vma.1_Silent_p.L629L|PLEKHG5_uc010nzr.1_Silent_p.L858L|PLEKHG5_uc001ank.1_Silent_p.L789L|PLEKHG5_uc009vmb.1_Silent_p.L789L|PLEKHG5_uc001anl.1_Silent_p.L789L|PLEKHG5_uc001anm.1_Silent_p.L789L|PLEKHG5_uc001anr.1_Silent_p.L52L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	845					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)		CAGTGGTGCTGAGAGAGGTCT	0.652		NA											12	39					0	0	0	0
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:10434488C>T	uc001aqx.3	+	46	5263	c.5061C>T	c.(5059-5061)CTC>CTT	p.L1687L	KIF1B_uc001aqw.3_Silent_p.L1641L|KIF1B_uc001aqy.2_Silent_p.L1661L|KIF1B_uc001aqz.2_Silent_p.L1687L|KIF1B_uc001ara.2_Silent_p.L1647L|KIF1B_uc001arb.2_Silent_p.L1673L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1687					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433		NA											60	106					0	0	0	0
NBPF1	55672	broad.mit.edu	37	1	16893673	16893673	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:16893673C>A	uc009vos.1	-	26	3952	c.3064_splice	c.e26+1	p.R1022_splice	NBPF1_uc009vot.1_Splice_Site_p.E405_splice|NBPF1_uc001ayz.1_Splice_Site_p.E405_splice	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468		NA											17	887					1.98e-07	2.11e-07	1	0
MAN1C1	57134	broad.mit.edu	37	1	25944444	25944444	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944444C>G	uc001bkm.2	+	1	486	c.156C>G	c.(154-156)CTC>CTG	p.L52L	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	52	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)		TCAAGCGCCTCTTCCTGGCCC	0.657		NA											7	51					0	0	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944475	25944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944475C>G	uc001bkm.2	+	1	517	c.187C>G	c.(187-189)CTG>GTG	p.L63V	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	63	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)		GCAGCCTGGTCTGGAAGTGGT	0.602		NA											4	38					0	0	0	0
BAI2	576	broad.mit.edu	37	1	32210289	32210289	+	Silent	SNP	C	C	T	rs138537223	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:32210289C>T	uc001btn.2	-	5	1236	c.882G>A	c.(880-882)CCG>CCA	p.P294P	BAI2_uc010ogo.1_5'UTR|BAI2_uc010ogp.1_Silent_p.P282P|BAI2_uc010ogq.1_Silent_p.P294P|BAI2_uc001bto.2_Silent_p.P294P|BAI2_uc001btq.1_Silent_p.P282P|BAI2_uc010ogr.1_Silent_p.P282P	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	294	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCAGACCTCGGCCACTGGG	0.627		NA											11	36					0	0	0	0
YARS	8565	broad.mit.edu	37	1	33252028	33252028	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:33252028C>G	uc001bvy.1	-	8	1629	c.841G>C	c.(841-843)GAG>CAG	p.E281Q	YARS_uc001bvx.1_5'Flank	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	281					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCATTTCTCATCTCGTAGG	0.428		NA											13	39					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39753030	39753030	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753030C>T	uc010ois.1	+	16	1801	c.1596C>T	c.(1594-1596)TTC>TTT	p.F532F	MACF1_uc001cda.1_Silent_p.F440F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	532					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCATTTCACTTCACTTG	0.463		NA											45	148					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39753073	39753073	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753073C>G	uc010ois.1	+	16	1844	c.1639C>G	c.(1639-1641)CAT>GAT	p.H547D	MACF1_uc001cda.1_Missense_Mutation_p.H455D	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	547					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCACCACTCATCTGAAAGC	0.498		NA											59	205					0	0	0	0
MYSM1	114803	broad.mit.edu	37	1	59148058	59148058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:59148058C>T	uc009wab.1	-	8	681	c.658G>A	c.(658-660)GAT>AAT	p.D220N	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	220					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					ACTTCTTCATCATCAGATAAC	0.388		NA											26	132					0	0	0	0
LRRC7	57554	broad.mit.edu	37	1	70505456	70505456	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:70505456G>C	uc001dep.2	+	19	3865	c.3835G>C	c.(3835-3837)GAA>CAA	p.E1279Q	LRRC7_uc009wbg.2_Missense_Mutation_p.E563Q|LRRC7_uc001deq.2_Missense_Mutation_p.E520Q	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1279						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TAGACATATAGAAGCTAGACG	0.438		NA											26	127					0	0	0	0
DNAJB4	11080	broad.mit.edu	37	1	78470899	78470899	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:78470899G>C	uc001dij.2	+	1	264	c.105G>C	c.(103-105)AAG>AAC	p.K35N	DNAJB4_uc010orn.1_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	35	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						ATCCGGACAAGAACAAATCTC	0.373		NA											3	118					0	0	0	0
ELTD1	64123	broad.mit.edu	37	1	79387472	79387472	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:79387472C>A	uc001diq.3	-	9	1240	c.1084_splice	c.e9-1	p.V362_splice		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTGACCTGAAAAAAAG	0.353		NA											7	34					1.26e-09	1.36e-09	1	0
PTBP2	58155	broad.mit.edu	37	1	97235416	97235416	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:97235416G>C	uc001drq.2	+	4	519	c.273G>C	c.(271-273)CTG>CTC	p.L91L	PTBP2_uc001drn.2_Silent_p.L91L|PTBP2_uc001dro.2_Silent_p.L91L|PTBP2_uc010otz.1_Silent_p.L102L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.L39L|PTBP2_uc001drr.2_Silent_p.L91L|PTBP2_uc010oua.1_Silent_p.L99L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Silent_p.L91L	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	91	RRM 1.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCTTATGCTGAAAGGAAAAA	0.368		NA											31	81					0	0	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs143849195	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:153043109C>T	uc001fbg.2	-	2	270	c.207G>A	c.(205-207)CCG>CCA	p.P69P	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532		NA											60	176					0	0	0	0
RUSC1	23623	broad.mit.edu	37	1	155292131	155292131	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:155292131G>T	uc001fkj.2	+	2	796	c.567G>T	c.(565-567)CAG>CAT	p.Q189H	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.Q189H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	189						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCACCTGCCAGGACGTCCCTT	0.607		NA											29	69					1.75e-13	1.9e-13	1	0
FAM78B	149297	broad.mit.edu	37	1	166039589	166039589	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:166039589C>T	uc001gdr.2	-	3	1265	c.675G>A	c.(673-675)CGG>CGA	p.R225R	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	225										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGTTCCATCCGGCTCAGGA	0.627		NA											20	95					0	0	0	0
LGR6	59352	broad.mit.edu	37	1	202287946	202287946	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:202287946C>T	uc001gxu.2	+	18	2515	c.2515C>T	c.(2515-2517)CGG>TGG	p.R839W	LGR6_uc001gxv.2_Missense_Mutation_p.R787W|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.R700W	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	839	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GGATGACCTTCGGCGGCTTCG	0.667		NA											34	118					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228432096	228432096	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:228432096A>G	uc009xez.1	+	11	3349	c.3305A>G	c.(3304-3306)CAG>CGG	p.Q1102R	OBSCN_uc001hsn.2_Missense_Mutation_p.Q1102R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1102	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCCAGGCCCAGACGGAGGTG	0.597		NA											9	87					0	0	0	0
TRIM58	25893	broad.mit.edu	37	1	248028108	248028108	+	Silent	SNP	G	G	A	rs147052726		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:248028108G>A	uc001ido.2	+	3	666	c.618G>A	c.(616-618)GCG>GCA	p.A206A		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	206	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGGAGGCGGAGGAGCGAG	0.622		NA											21	40					0	0	0	0
FAM107B	83641	broad.mit.edu	37	10	14816385	14816385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:14816385G>C	uc001ina.1	-	1	512	c.278C>G	c.(277-279)TCA>TGA	p.S93*	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						GCGGTGACTTGAATTCCGATT	0.597		NA											53	118					0	0	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999441	46999441	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:46999441G>C	uc001jec.2	+	3	696	c.561G>C	c.(559-561)TGG>TGC	p.W187C	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	187											0						ACTCAGCCTGGATGCTGGGGG	0.627		NA											9	37					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:48390446C>G	uc001jez.2	-	1	546	c.432G>C	c.(430-432)CTG>CTC	p.L144L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	144	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)	CCATCATGCTCAGCACCTCCT	0.642		NA											19	76					0	0	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819200	50819200	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:50819200G>C	uc001jhw.2	+	1	854	c.414G>C	c.(412-414)GTG>GTC	p.V138V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	138	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						AGCTGCTAGTGAACCCCTTGA	0.632		NA											29	80					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55566626	55566626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55566626C>A	uc010qhq.1	-	36	5157	c.4762G>T	c.(4762-4764)GAG>TAG	p.E1588*	PCDH15_uc010qhr.1_Nonsense_Mutation_p.E1583*	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTCTCCTCATGTGTCACT	0.488		NA								HNSCC(58;0.16)			18	311					5.39e-06	5.68e-06	1	0
PCDH15	65217	broad.mit.edu	37	10	55826607	55826607	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55826607G>C	uc001jju.1	-	18	2525	c.2130C>G	c.(2128-2130)GTC>GTG	p.V710V	PCDH15_uc010qhq.1_Silent_p.V715V|PCDH15_uc010qhr.1_Silent_p.V710V|PCDH15_uc010qhs.1_Silent_p.V722V|PCDH15_uc010qht.1_Silent_p.V717V|PCDH15_uc010qhu.1_Silent_p.V710V|PCDH15_uc001jjv.1_Silent_p.V688V|PCDH15_uc010qhv.1_Silent_p.V710V|PCDH15_uc010qhw.1_Silent_p.V673V|PCDH15_uc010qhx.1_Silent_p.V639V|PCDH15_uc010qhy.1_Silent_p.V715V|PCDH15_uc010qhz.1_Silent_p.V710V|PCDH15_uc010qia.1_Silent_p.V688V|PCDH15_uc010qib.1_Silent_p.V688V|PCDH15_uc001jjw.2_Silent_p.V710V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	710	Cadherin 6.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTGTCATTGACATCTGTCA	0.373		NA								HNSCC(58;0.16)			16	65					0	0	0	0
MYPN	84665	broad.mit.edu	37	10	69934302	69934302	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:69934302C>G	uc001jnm.3	+	12	2638	c.2453C>G	c.(2452-2454)TCT>TGT	p.S818C	MYPN_uc001jnn.3_Missense_Mutation_p.S543C|MYPN_uc001jno.3_Missense_Mutation_p.S818C|MYPN_uc009xpt.2_Missense_Mutation_p.S818C|MYPN_uc010qit.1_Missense_Mutation_p.S524C|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	818	Pro-rich.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						ATTCCTGTCTCTCCTACCAGC	0.567		NA											20	67					0	0	0	0
VCL	7414	broad.mit.edu	37	10	75855484	75855484	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:75855484G>A	uc001jwd.2	+	12	1708	c.1614G>A	c.(1612-1614)CGG>CGA	p.R538R	VCL_uc009xrr.2_Silent_p.R287R|VCL_uc010qky.1_Silent_p.R445R|VCL_uc001jwe.2_Silent_p.R538R|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	538	N-terminal globular head.|3.|3 X 112 AA tandem repeats.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					GGCCTTATCGGCAAGATCTTC	0.582		NA											4	168					0	0	0	0
DLG5	9231	broad.mit.edu	37	10	79581243	79581243	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:79581243G>A	uc001jzk.2	-	15	3069	c.2999C>T	c.(2998-3000)TCT>TTT	p.S1000F	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S604F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1000	Pro-rich.				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)			GGGCTGGGGAGAGTGAGCAGG	0.572		NA											53	108					0	0	0	0
ENTPD1	953	broad.mit.edu	37	10	97607402	97607402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:97607402G>A	uc001klh.3	+	7	1337	c.1013G>A	c.(1012-1014)TGC>TAC	p.C338Y	ENTPD1_uc001kli.3_Missense_Mutation_p.C345Y|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.C350Y|ENTPD1_uc010qok.1_Missense_Mutation_p.C230Y|ENTPD1_uc010qol.1_Missense_Mutation_p.C230Y|ENTPD1_uc010qom.1_Missense_Mutation_p.C297Y|ENTPD1_uc010qon.1_Missense_Mutation_p.C200Y|ENTPD1_uc009xva.2_Missense_Mutation_p.C200Y|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	338	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCAGTTACTGCCCTTACTCC	0.418		NA											11	132					0	0	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054860	102054860	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:102054860G>A	uc001kqx.1	-	8	1760	c.1377C>T	c.(1375-1377)TTC>TTT	p.F459F	PKD2L1_uc009xwm.1_Silent_p.F412F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	459	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGTTTTGTTGAAGCTGATGT	0.502		NA											26	140					0	0	0	0
GSTO1	9446	broad.mit.edu	37	10	106014946	106014946	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:106014946G>A	uc001kya.2	+	2	69	c.60G>A	c.(58-60)CCG>CCA	p.P20P		NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	20					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GGCCGGTCCCGGAGGGCTCGA	0.687		NA											18	46					0	0	0	0
ZRANB1	54764	broad.mit.edu	37	10	126660540	126660540	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126660540C>G	uc001lic.2	+	3	1380	c.1009C>G	c.(1009-1011)CAA>GAA	p.Q337E	ZRANB1_uc010qug.1_Missense_Mutation_p.Q363E	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	337					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAAGGTGTCTCAACAAGCAGC	0.393		NA											11	77					0	0	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682516G>A	uc009yak.2	-	8	1106	c.819C>T	c.(817-819)GGC>GGT	p.G273G	CTBP2_uc009yal.2_Silent_p.G273G|CTBP2_uc001lif.3_Silent_p.G273G|CTBP2_uc001lih.3_Silent_p.G273G|CTBP2_uc001lid.3_Silent_p.G341G|CTBP2_uc001lie.3_Silent_p.G813G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582		NA											4	125					0	0	0	0
PKP3	11187	broad.mit.edu	37	11	399093	399093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:399093C>G	uc001lpc.2	+	5	1246	c.1170C>G	c.(1168-1170)TAC>TAG	p.Y390*		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	390	ARM 2.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCATCTACGACAACGCTG	0.597		NA											15	37					0	0	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529406	5529406	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:5529406A>G	uc001may.1	-	2	1469	c.1383T>C	c.(1381-1383)TCT>TCC	p.S461S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	461										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAAAAAGATAAGGGAG	0.547		NA											9	53					0	0	0	0
SOX6	55553	broad.mit.edu	37	11	16007886	16007886	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:16007886C>T	uc001mme.2	-	15	2119	c.2086G>A	c.(2086-2088)GAG>AAG	p.E696K	SOX6_uc001mmd.2_Missense_Mutation_p.E659K|SOX6_uc001mmf.2_Missense_Mutation_p.E656K|SOX6_uc001mmg.2_Missense_Mutation_p.E663K	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	683	HMG box.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGGTACTTCTCTAAGTGGATC	0.443		NA											49	122					0	0	0	0
DGKZ	8525	broad.mit.edu	37	11	46394220	46394220	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:46394220A>G	uc001ncn.1	+	13	1753	c.1628A>G	c.(1627-1629)GAC>GGC	p.D543G	DGKZ_uc001nch.1_Missense_Mutation_p.D371G|DGKZ_uc010rgq.1_Missense_Mutation_p.D298G|DGKZ_uc001ncj.1_Missense_Mutation_p.D321G|DGKZ_uc010rgr.1_Missense_Mutation_p.D320G|DGKZ_uc001nck.1_Missense_Mutation_p.D133G|DGKZ_uc001ncl.2_Missense_Mutation_p.D355G|DGKZ_uc001ncm.2_Missense_Mutation_p.D354G|DGKZ_uc009yky.1_Missense_Mutation_p.D355G|DGKZ_uc010rgs.1_Missense_Mutation_p.D332G	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	543	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCGGGGGCGACGGCACGGTG	0.662		NA											13	24					0	0	0	0
AGBL2	79841	broad.mit.edu	37	11	47698947	47698947	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:47698947G>C	uc001ngg.2	-	13	2123	c.2023C>G	c.(2023-2025)CAG>GAG	p.Q675E	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.Q637E|AGBL2_uc001ngh.1_Intron	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	675					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GCTAGACACTGAGTGAACTAT	0.254		NA											6	34					0	0	0	0
FOLH1	2346	broad.mit.edu	37	11	49186311	49186311	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:49186311C>T	uc001ngy.2	-	13	1647	c.1386G>A	c.(1384-1386)CTG>CTA	p.L462L	FOLH1_uc001ngz.2_Silent_p.L462L|FOLH1_uc009yly.2_Silent_p.L447L|FOLH1_uc009ylz.2_Silent_p.L447L|FOLH1_uc009yma.2_Silent_p.L154L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	462	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATCAACTCTCAGAGTGTAGT	0.279		NA											8	24					0	0	0	0
OR4A5	81318	broad.mit.edu	37	11	51411717	51411717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:51411717G>A	uc001nhi.1	-	1	679	c.679C>T	c.(679-681)CAG>TAG	p.Q227*		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	227	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)				CTCTTTTCCTGACTGTAAGTT	0.423		NA											8	88					0	0	0	0
INCENP	3619	broad.mit.edu	37	11	61906207	61906207	+	Missense_Mutation	SNP	G	G	A	rs140202170		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:61906207G>A	uc001nsw.1	+	6	1340	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	INCENP_uc009ynw.1_Missense_Mutation_p.E380K|INCENP_uc001nsx.1_Missense_Mutation_p.E380K	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	380					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GGAACCCCCCGAGGAGGCTGA	0.632		NA											13	47					0	0	0	0
OTUB1	55611	broad.mit.edu	37	11	63764101	63764101	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:63764101G>A	uc001nyf.1	+	4	923	c.319G>A	c.(319-321)GAC>AAC	p.D107N	OTUB1_uc001nyg.1_Missense_Mutation_p.M80I|OTUB1_uc010rmz.1_Missense_Mutation_p.D144N|OTUB1_uc010rna.1_Missense_Mutation_p.M46I|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.D77N	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	107	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						ACTGCTGGATGACAGCAAGGA	0.592		NA											17	56					0	0	0	0
PACS1	55690	broad.mit.edu	37	11	66009032	66009032	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:66009032C>T	uc001oha.1	+	22	2698	c.2564C>T	c.(2563-2565)TCA>TTA	p.S855L	PACS1_uc010rou.1_Missense_Mutation_p.S391L	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	855					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GTCTTCCGCTCAGTGCAGGTG	0.602		NA											13	74					0	0	0	0
PITPNM1	9600	broad.mit.edu	37	11	67271646	67271646	+	Silent	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67271646G>T	uc001olx.2	-	1	195	c.6C>A	c.(4-6)CTC>CTA	p.L2L	PITPNM1_uc001oly.2_Silent_p.L2L|PITPNM1_uc001olz.2_Silent_p.L2L	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	2					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						ATTCCTTGATGAGCATCCTGA	0.706		NA											7	35					1.77e-08	1.89e-08	1	0
TCIRG1	10312	broad.mit.edu	37	11	67818101	67818101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67818101C>A	uc001one.2	+	19	2492	c.2384C>A	c.(2383-2385)TCA>TAA	p.S795*	TCIRG1_uc001ong.2_Nonsense_Mutation_p.S579*|TCIRG1_uc001onh.2_Nonsense_Mutation_p.S497*|TCIRG1_uc001oni.2_Nonsense_Mutation_p.S299*|TCIRG1_uc009ysd.2_Intron	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	795	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						GAGGGACTCTCAGCCTTCCTG	0.662		NA											31	99					8.74e-17	9.53e-17	1	0
LRP5	4041	broad.mit.edu	37	11	68197131	68197131	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:68197131C>G	uc001ont.2	+	17	3801	c.3726C>G	c.(3724-3726)GTC>GTG	p.V1242V	LRP5_uc009ysg.2_Silent_p.V652V	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1242	EGF-like 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CATGCCCAGTCCACCTCGTGC	0.582		NA											16	101					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068155	73068155	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:73068155C>T	uc001otu.2	+	8	3998	c.3977C>T	c.(3976-3978)TCC>TTC	p.S1326F		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1326					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						AAGTCAGGCTCCCTGCGGCGC	0.632		NA											10	87					0	0	0	0
TSKU	25987	broad.mit.edu	37	11	76507546	76507546	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:76507546G>A	uc001oxt.2	+	2	1058	c.886G>A	c.(886-888)GAG>AAG	p.E296K		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	296	LRR 10.					extracellular region					0	Ovarian(111;0.112)					GCCCCTGCCTGAGGCGCTGCT	0.692		NA											5	56					0	0	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891330	89891330	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:89891330G>C	uc001pdf.3	+	7	923	c.814G>C	c.(814-816)GAT>CAT	p.D272H	NAALAD2_uc009yvx.2_Missense_Mutation_p.D272H|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.D272H|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	272	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)				TTTCAGACTTGATGTTGAAGA	0.244		NA											55	168					0	0	0	0
ZW10	9183	broad.mit.edu	37	11	113614714	113614714	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:113614714C>T	uc001poe.2	-	10	1358	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	441					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)		TTGTTATCCTCATCAGGAGTG	0.333		NA											15	47					0	0	0	0
ZNF259	8882	broad.mit.edu	37	11	116649676	116649676	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:116649676C>G	uc001ppp.2	-	14	1378	c.1345G>C	c.(1345-1347)GAG>CAG	p.E449Q	ZNF259_uc009yzd.2_Missense_Mutation_p.E420Q|ZNF259_uc001ppq.2_Missense_Mutation_p.E379Q	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	449					cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATAGCCCTCTGTCTTCATG	0.522		NA											17	61					0	0	0	0
BACE1	23621	broad.mit.edu	37	11	117186311	117186311	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:117186311C>G	uc001pqz.2	-	1	662	c.201G>C	c.(199-201)CTG>CTC	p.L67L	BACE1_uc001pqw.2_Silent_p.L67L|BACE1_uc001pqx.2_Silent_p.L67L|BACE1_uc001pqy.2_Silent_p.L67L|BACE1_uc001pra.1_Silent_p.L67L	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	67	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ACTTGCCCCTCAGGTTGTCCA	0.711		NA											8	42					0	0	0	0
MPZL3	196264	broad.mit.edu	37	11	118111030	118111030	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:118111030C>T	uc001psm.2	-	2	138	c.136G>A	c.(136-138)GAA>AAA	p.E46K	MPZL3_uc010rxy.1_Missense_Mutation_p.E34K|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	46	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)		TTGATCTTTTCTCCAACATAA	0.418		NA											14	66					0	0	0	0
SORL1	6653	broad.mit.edu	37	11	121478812	121478812	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:121478812G>A	uc001pxx.2	+	38	5247	c.5167_splice	c.e38-1	p.V1723_splice	SORL1_uc010rzp.1_Splice_Site_p.V569_splice|SORL1_uc010rzq.1_Splice_Site_p.V338_splice	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATTTGAAAAGGTGGCTGCGG	0.393		NA											26	21					0	0	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981428	7981428	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:7981428T>C	uc001qtk.2	-	11	1410	c.617A>G	c.(616-618)GAG>GGG	p.E206G	SLC2A14_uc001qtl.2_Missense_Mutation_p.E183G|SLC2A14_uc001qtm.2_Missense_Mutation_p.E183G|SLC2A14_uc010sgg.1_Missense_Mutation_p.E97G|SLC2A14_uc001qtn.2_Missense_Mutation_p.E206G|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.E221G	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	206	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		CGGCCATAGCTCTTCAGACCC	0.453		NA											12	125					0	0	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:43944794G>A	uc010skx.1	-	2	371	c.371C>T	c.(370-372)TCG>TTG	p.S124L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	124						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667		NA											3	23					0	0	0	0
PFKM	5213	broad.mit.edu	37	12	48526696	48526696	+	Nonsense_Mutation	SNP	C	C	T	rs121918195		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:48526696C>T	uc001rrc.2	+	5	453	c.283C>T	c.(283-285)CGA>TGA	p.R95*	PFKM_uc001rra.1_Translation_Start_Site|PFKM_uc001rrb.1_Nonsense_Mutation_p.R166*|PFKM_uc001rrd.2_Translation_Start_Site|PFKM_uc001rre.1_Nonsense_Mutation_p.R95*|PFKM_uc001rrg.1_Nonsense_Mutation_p.R95*	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	95					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						CTTTCGGGAACGAGAAGGACG	0.567		NA											8	40					0	0	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:56565655C>T	uc001skb.2	-	20	2006	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K	SMARCC2_uc001skd.2_Missense_Mutation_p.E665K|SMARCC2_uc001ska.2_Missense_Mutation_p.E665K|SMARCC2_uc001skc.2_Missense_Mutation_p.E664K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E554K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	634	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542		NA											7	81					0	0	0	0
STAC3	246329	broad.mit.edu	37	12	57642941	57642941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:57642941C>G	uc001snp.2	-	3	412	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E34Q|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	73	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						tcctcctcctcctcttcttcc	0.443		NA											25	67					0	0	0	0
BBS10	79738	broad.mit.edu	37	12	76740945	76740945	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:76740945C>G	uc001syd.1	-	2	904	c.820G>C	c.(820-822)GAG>CAG	p.E274Q		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						AGAATAAACTCTGATCCAGAA	0.368		NA							Bardet-Biedl_syndrome				10	44					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147853	82147853	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:82147853G>A	uc001szo.1	-	3	309	c.148C>T	c.(148-150)CGG>TGG	p.R50W	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	309										ovary(3)|lung(2)|pancreas(1)	6						TGGGTCTCCCGAAGGGTGTCT	0.527		NA											11	36					0	0	0	0
C12orf63	374467	broad.mit.edu	37	12	97136306	97136306	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:97136306C>G	uc001tet.1	+	19	2514	c.2436C>G	c.(2434-2436)TGC>TGG	p.C812W		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	812										skin(6)|ovary(1)	7						GGTTGAGGTGCCGCTTAGCAT	0.343		NA											7	39					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110236715	110236715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:110236715C>A	uc001tpj.1	-	5	951	c.856G>T	c.(856-858)GAG>TAG	p.E286*	TRPV4_uc001tpg.1_Nonsense_Mutation_p.E252*|TRPV4_uc001tph.1_Nonsense_Mutation_p.E239*|TRPV4_uc001tpi.1_Nonsense_Mutation_p.E239*|TRPV4_uc001tpk.1_Nonsense_Mutation_p.E286*|TRPV4_uc001tpl.1_Nonsense_Mutation_p.E286*	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	286	Cytoplasmic (Potential).|ANK 2.				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGGGGCAGCTCCCCTGCGGGC	0.682		NA											20	58					8.05e-18	8.83e-18	1	0
VPS33A	65082	broad.mit.edu	37	12	122748187	122748187	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:122748187C>T	uc001ucd.2	-	3	341	c.228G>A	c.(226-228)GTG>GTA	p.V76V	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Silent_p.V76V	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	76					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTATATTCTTCACATCAGCTG	0.388		NA											10	72					0	0	0	0
ABCB9	23457	broad.mit.edu	37	12	123444339	123444339	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:123444339C>T	uc001udm.3	-	2	754	c.444G>A	c.(442-444)GAG>GAA	p.E148E	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.E148E|ABCB9_uc010taj.1_Silent_p.E148E|ABCB9_uc001udp.2_Silent_p.E148E|ABCB9_uc001udq.2_5'UTR|ABCB9_uc001udr.2_Silent_p.E148E	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	148					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCGCCCCTGGCTCCAGGGCCT	0.692		NA											9	28					0	0	0	0
GPR133	283383	broad.mit.edu	37	12	131593290	131593290	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:131593290G>A	uc001uit.3	+	18	2468	c.1909G>A	c.(1909-1911)GTG>ATG	p.V637M	GPR133_uc010tbm.1_Missense_Mutation_p.V669M|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.V156M|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	637	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGTGATGGCCGTGCTCCTACA	0.582		NA											53	197					0	0	0	0
PCDH8	5100	broad.mit.edu	37	13	53418853	53418853	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:53418853C>G	uc001vhi.2	-	3	3258	c.3055G>C	c.(3055-3057)GAG>CAG	p.E1019Q	PCDH8_uc001vhj.2_Missense_Mutation_p.E922Q	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1019	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTACTTTCTCATAGACGCTC	0.577		NA											31	98					0	0	0	0
C13orf34	79866	broad.mit.edu	37	13	73320742	73320742	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:73320742G>A	uc001viv.1	+	10	1094	c.975G>A	c.(973-975)TCG>TCA	p.S325S	C13orf34_uc010thq.1_Silent_p.S100S|C13orf34_uc010aen.1_Silent_p.S400S|C13orf34_uc010thr.1_Silent_p.S255S|C13orf34_uc001viw.1_Silent_p.S274S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	325					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		ATGGCTGCTCGCCAATTAAAA	0.393		NA											22	102					0	0	0	0
RBM26	64062	broad.mit.edu	37	13	79940220	79940220	+	Missense_Mutation	SNP	G	G	A	rs143505765		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:79940220G>A	uc001vkz.2	-	8	1260	c.1246C>T	c.(1246-1248)CCT>TCT	p.P416S	RBM26_uc001vky.2_Missense_Mutation_p.P416S|RBM26_uc001vla.2_Missense_Mutation_p.P416S|RBM26_uc001vkx.2_Missense_Mutation_p.P128S	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	416	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAGCAGGAGGAGGCTGGTGA	0.438		NA											27	131					0	0	0	0
C13orf16	121793	broad.mit.edu	37	13	111980540	111980540	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:111980540T>C	uc001vsa.2	+	3	198	c.69T>C	c.(67-69)GTT>GTC	p.V23V		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	23	Extracellular (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			TGTGTGACGTTCCTCTGTATG	0.542		NA											25	77					0	0	0	0
MDGA2	161357	broad.mit.edu	37	14	47566311	47566311	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:47566311T>C	uc001wwj.3	-	6	930	c.734A>G	c.(733-735)AAA>AGA	p.K245R	MDGA2_uc001wwi.3_Missense_Mutation_p.K16R|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	245	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CACCAAGAGTTTAATTGACGG	0.403		NA											51	83					0	0	0	0
OTX2	5015	broad.mit.edu	37	14	57268748	57268748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:57268748G>A	uc001xcp.2	-	3	746	c.575C>T	c.(574-576)TCA>TTA	p.S192L	OTX2_uc010aou.2_Missense_Mutation_p.S192L|OTX2_uc001xcq.2_Missense_Mutation_p.S200L	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	192					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTAGGAAGTTGAGCCAGCATA	0.527		NA											19	68					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	80130178	80130178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:80130178G>T	uc001xun.2	+	14	2874	c.2383G>T	c.(2383-2385)GAG>TAG	p.E795*	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Nonsense_Mutation_p.E163*|NRXN3_uc010asw.2_Nonsense_Mutation_p.E163*|NRXN3_uc001xur.3_Nonsense_Mutation_p.E163*	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1168	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTCCATCAAAGAGGAGAGAAC	0.478		NA											8	40					0.000157383	0.000163232	1	0
CATSPERB	79820	broad.mit.edu	37	14	92136190	92136190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:92136190G>A	uc001xzs.1	-	14	1395	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	419					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGTGGCTTCGGGGATGAAAT	0.413		NA											15	35					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24923158	24923158	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:24923158C>A	uc001ywo.2	+	1	2618	c.2144C>A	c.(2143-2145)TCT>TAT	p.S715Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	715					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)		CAGTCTGCCTCTGTCTCCAAG	0.522		NA											41	130					4.44e-20	4.89e-20	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43687329	43687329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:43687329G>T	uc001zro.2	+	10	1279	c.1039G>T	c.(1039-1041)GAA>TAA	p.E347*	TUBGCP4_uc001zrn.2_Nonsense_Mutation_p.E347*|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	347					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATGGTAGAAGAATCCGATTT	0.413		NA											36	160					4.63e-21	5.11e-21	1	0
FSD2	123722	broad.mit.edu	37	15	83455869	83455869	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455869C>G	uc002bjd.2	-	2	441	c.274G>C	c.(274-276)GAT>CAT	p.D92H	FSD2_uc010uol.1_Missense_Mutation_p.D92H|FSD2_uc010uom.1_Missense_Mutation_p.D92H	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	92										central_nervous_system(1)	1						ATGTTTTCATCAACAAACTCA	0.448		NA											35	118					0	0	0	0
FSD2	123722	broad.mit.edu	37	15	83455949	83455949	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455949C>G	uc002bjd.2	-	2	361	c.194G>C	c.(193-195)AGA>ACA	p.R65T	FSD2_uc010uol.1_Missense_Mutation_p.R65T|FSD2_uc010uom.1_Missense_Mutation_p.R65T	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	65										central_nervous_system(1)	1						TTGAAGGTCTCTTTGAGCCTT	0.438		NA											44	127					0	0	0	0
FES	2242	broad.mit.edu	37	15	91428286	91428286	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:91428286C>T	uc002bpv.2	+	2	107	c.11C>T	c.(10-12)TCT>TTT	p.S4F	FES_uc010uqj.1_Missense_Mutation_p.S4F|FES_uc010uqk.1_Missense_Mutation_p.S4F|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.S4F|FES_uc002bpx.2_Missense_Mutation_p.S4F|FES_uc002bpy.2_Missense_Mutation_p.S4F	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	4	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGGGCTTCTCTTCCGAGCTG	0.632		NA											56	206					0	0	0	0
WDR90	197335	broad.mit.edu	37	16	716348	716348	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:716348G>C	uc002cii.1	+	37	4792	c.4738G>C	c.(4738-4740)GAG>CAG	p.E1580Q	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E195Q|WDR90_uc010uul.1_Missense_Mutation_p.E179Q|WDR90_uc002cio.1_Missense_Mutation_p.E179Q|WDR90_uc010bqx.1_Missense_Mutation_p.E179Q|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1580	WD 20.									ovary(1)	1		Hepatocellular(780;0.0218)				CACGTGCAAAGAGGTAAAGCA	0.637		NA											13	118					0	0	0	0
C16orf42	115939	broad.mit.edu	37	16	1399476	1399476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1399476C>A	uc002cll.2	-	6	969	c.901G>T	c.(901-903)GAG>TAG	p.E301*	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	301					rRNA processing						0		Hepatocellular(780;0.0893)				TTCCAAACCTCAGCCGGGGCC	0.597		NA											133	404					1.03e-63	1.14e-63	1	0
IGFALS	3483	broad.mit.edu	37	16	1840972	1840972	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1840972G>A	uc002cmy.2	-	2	1528	c.1447C>T	c.(1447-1449)CGG>TGG	p.R483W	IGFALS_uc010uvn.1_Missense_Mutation_p.R521W|IGFALS_uc010uvo.1_Missense_Mutation_p.R117W	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	483	LRR 18.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						CAGAAGGCCCGCTGCAGGGGG	0.697		NA											12	24					0	0	0	0
TBL3	10607	broad.mit.edu	37	16	2025598	2025598	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2025598G>C	uc002cnu.1	+	10	976	c.874G>C	c.(874-876)GGG>CGG	p.G292R	TBL3_uc002cnv.1_Missense_Mutation_p.G178R|TBL3_uc010bsb.1_Missense_Mutation_p.G81R|TBL3_uc010bsc.1_Missense_Mutation_p.G178R|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	292	WD 6.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GCCGGGCCCTGGGCAGGAGCT	0.697		NA											7	24					0	0	0	0
SRRM2	23524	broad.mit.edu	37	16	2812868	2812868	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2812868C>T	uc002crk.2	+	11	2888	c.2339C>T	c.(2338-2340)TCA>TTA	p.S780L	SRRM2_uc002crj.1_Missense_Mutation_p.S684L|SRRM2_uc002crl.1_Missense_Mutation_p.S780L|SRRM2_uc010bsu.1_Missense_Mutation_p.S684L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	780	Arg-rich.|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						CGCAGCCTTTCAGGGTCTTCC	0.517		NA											69	337					0	0	0	0
BTBD12	84464	broad.mit.edu	37	16	3632510	3632510	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:3632510C>T	uc002cvp.2	-	15	5965	c.5338G>A	c.(5338-5340)GAG>AAG	p.E1780K		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1780	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				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						GCCTGCAGCTCCCGCAGCTCA	0.647		NA						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				30	136					0	0	0	0
TMEM186	25880	broad.mit.edu	37	16	8890280	8890280	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:8890280C>G	uc002cze.2	-	2	205	c.171G>C	c.(169-171)TGG>TGC	p.W57C	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	57						integral to membrane|mitochondrion				ovary(1)	1						GGTAAAACATCCAGAATTTCT	0.522		NA											26	209					0	0	0	0
CPPED1	55313	broad.mit.edu	37	16	12758885	12758885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:12758885C>T	uc002dca.3	-	4	914	c.803G>A	c.(802-804)GGA>GAA	p.G268E	CPPED1_uc002dcb.3_Missense_Mutation_p.G126E|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	268							hydrolase activity|metal ion binding				0						CAGCTGGCATCCAATGGCAGA	0.562		NA											7	86					0	0	0	0
UMOD	7369	broad.mit.edu	37	16	20348623	20348623	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:20348623T>C	uc002dgz.2	-	8	1859	c.1730A>G	c.(1729-1731)AAG>AGG	p.K577R	UMOD_uc002dha.2_Missense_Mutation_p.K577R|UMOD_uc002dhb.2_Missense_Mutation_p.K610R	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	577	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						AGGCTTGCACTTTTCATTCAT	0.473		NA											13	28					0	0	0	0
IRX5	10265	broad.mit.edu	37	16	54966471	54966471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:54966471C>T	uc002ehv.2	+	2	311	c.311C>T	c.(310-312)GCG>GTG	p.A104V	IRX5_uc010cca.1_Missense_Mutation_p.A156V|IRX5_uc002ehw.2_Missense_Mutation_p.A38V	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	104					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCTTACGCGGCGCCCCTGGGA	0.662		NA											14	49					0	0	0	0
CES1	1066	broad.mit.edu	37	16	55844472	55844472	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:55844472C>G	uc002eim.2	-	11	1380	c.1272G>C	c.(1270-1272)GTG>GTC	p.V424V	CES1_uc010ccf.2_Silent_p.V99V|CES1_uc002eil.2_Silent_p.V425V|CES1_uc002ein.2_Silent_p.V423V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	424					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CACCAAACATCACATCTGCTA	0.498		NA											35	112					0	0	0	0
SF3B3	23450	broad.mit.edu	37	16	70597814	70597814	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:70597814A>G	uc002ezf.2	+	18	2535	c.2324A>G	c.(2323-2325)AAT>AGT	p.N775S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	775					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GCTGTCTTCAATCAAGTAGCC	0.428		NA											38	85					0	0	0	0
KARS	3735	broad.mit.edu	37	16	75674163	75674163	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:75674163T>A	uc002feq.2	-	3	355	c.307A>T	c.(307-309)ATC>TTC	p.I103F	KARS_uc002fer.2_Missense_Mutation_p.I131F|KARS_uc002fes.2_Intron|KARS_uc010cgz.2_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	103					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	GTGAGTGAGATGTCTACATGG	0.448		NA											68	238					0	0	0	0
RPA1	6117	broad.mit.edu	37	17	1787118	1787118	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:1787118A>G	uc002fto.2	+	13	1369	c.1254A>G	c.(1252-1254)GAA>GAG	p.E418E		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	418					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						TTGACGCAGAAGGACAAGCCT	0.488		NA						NER					40	124					0	0	0	0
TRPV3	162514	broad.mit.edu	37	17	3436163	3436163	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:3436163C>T	uc002fvt.1	-	8	1175	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.E269K|TRPV3_uc010vri.1_Missense_Mutation_p.E240K|TRPV3_uc010vrj.1_Missense_Mutation_p.E269K|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.E269K|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.E285K|TRPV3_uc002fvu.2_Missense_Mutation_p.E285K|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	285	ANK 2.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TCCGTCTGCTCGTGCTCCATC	0.602		NA											11	20					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7577534C>A	uc002gim.2	-	7	941	c.747G>T	c.(745-747)AGG>AGT	p.R249S	TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	47					0.000422831	0.000437068	1	0
TP53	7157	broad.mit.edu	37	17	7579698	7579698	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7579698A>C	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.S33fs*10(1)|p.P13fs*18(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTGTCCTTACCAGAACGTT	0.378		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	70					0	0	0	0
GIT1	28964	broad.mit.edu	37	17	27908398	27908398	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:27908398T>A	uc002hef.2	-	7	933	c.719A>T	c.(718-720)GAT>GTT	p.D240V	GIT1_uc002heg.2_Missense_Mutation_p.D240V|GIT1_uc010wbg.1_Missense_Mutation_p.D240V|GIT1_uc010csb.1_Missense_Mutation_p.D240V	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	240					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATTCTTGTGATCTGAACAAAA	0.547		NA											17	53					0	0	0	0
CPD	1362	broad.mit.edu	37	17	28788939	28788939	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:28788939G>A	uc002hfb.1	+	19	3690	c.3675G>A	c.(3673-3675)AAG>AAA	p.K1225K	CPD_uc010wbo.1_Silent_p.K978K|CPD_uc010wbp.1_Splice_Site	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1225	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AGACTGGAAAGCCAATCTCTA	0.353		NA											41	109					0	0	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964747	32964747	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:32964747C>G	uc002hif.2	+	10	2779	c.2451C>G	c.(2449-2451)ATC>ATG	p.I817M		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	817	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTTCCTCATCAACTGCATCG	0.632		NA											18	98					0	0	0	0
EIF1	10209	broad.mit.edu	37	17	39846111	39846111	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:39846111G>C	uc002hxj.2	+	2	277	c.113G>C	c.(112-114)AGA>ACA	p.R38T	JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Intron	NM_005801	NP_005792	P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	38					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATTCAACAGAGAAACGGCAGG	0.423		NA									OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	60					0	0	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843268	40843268	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:40843268G>C	uc002iay.2	+	14	2389	c.2173G>C	c.(2173-2175)GAC>CAC	p.D725H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	725	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GAGCTGTGTGGACCCTGCCTT	0.612		NA											22	179					0	0	0	0
AOC3	8639	broad.mit.edu	37	17	41008480	41008480	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41008480G>C	uc002ibv.2	+	4	2365	c.2205G>C	c.(2203-2205)GAG>GAC	p.E735D		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	735	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGCCTGCGAGGTCAACCCCC	0.622		NA											8	30					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41256889	41256889	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41256889C>T	uc002icq.2	-	5	529	c.297G>A	c.(295-297)TTG>TTA	p.L99L	BRCA1_uc010whp.1_Silent_p.L52L|BRCA1_uc010whl.1_Silent_p.L99L|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L29L|BRCA1_uc002icu.2_Silent_p.L99L|BRCA1_uc010cyx.2_Silent_p.L52L|BRCA1_uc002ict.2_Silent_p.L99L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Silent_p.L99L|BRCA1_uc010whr.1_Silent_p.L52L|BRCA1_uc002idd.2_Silent_p.L99L|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Silent_p.L99L|BRCA1_uc010whs.1_Silent_p.L99L|BRCA1_uc010cyz.2_Silent_p.L52L|BRCA1_uc010cza.2_Silent_p.L73L|BRCA1_uc010wht.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	99					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTTACACTCCAAACCTGTGT	0.373		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			24	69					0	0	0	0
FAM117A	81558	broad.mit.edu	37	17	47797212	47797212	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:47797212G>A	uc002ipk.2	-	5	687	c.618C>T	c.(616-618)CTC>CTT	p.L206L	FAM117A_uc010wlz.1_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	206										ovary(1)	1						GGCAGGGGCTGAGTCGCAAGA	0.602		NA											7	77					0	0	0	0
CA10	56934	broad.mit.edu	37	17	49713219	49713219	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:49713219C>T	uc002itw.3	-	7	1772	c.786G>A	c.(784-786)ATG>ATA	p.M262I	CA10_uc002itu.3_Missense_Mutation_p.M191I|CA10_uc002itv.3_Missense_Mutation_p.M268I|CA10_uc002itx.3_Missense_Mutation_p.M262I|CA10_uc002ity.3_Missense_Mutation_p.M262I|CA10_uc002itz.2_Missense_Mutation_p.M262I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	262					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AACTCACCTGCATCCTGGTTA	0.363		NA											15	43					0	0	0	0
SAP30BP	29115	broad.mit.edu	37	17	73698631	73698631	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73698631G>A	uc002jpe.2	+	6	522	c.468G>A	c.(466-468)AAG>AAA	p.K156K	SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Silent_p.K140K	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	156					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAAAGGAAGAAAGAATTTC	0.453		NA											15	55					0	0	0	0
CDK3	1018	broad.mit.edu	37	17	73998411	73998411	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73998411T>C	uc010dgt.2	+	5	474	c.398T>C	c.(397-399)CTG>CCG	p.L133P	CDK3_uc002jqg.3_Missense_Mutation_p.L161P	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	133	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCCCAGAACCTGCTCATCAAT	0.602		NA											9	53					0	0	0	0
CCDC57	284001	broad.mit.edu	37	17	80151991	80151991	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:80151991C>T	uc002kdz.1	-	6	998	c.643G>A	c.(643-645)GAG>AAG	p.E215K	CCDC57_uc002kdx.1_Missense_Mutation_p.E215K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	215	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCAGAGCCTCCAGCTCTTTG	0.517		NA											21	114					0	0	0	0
RIOK3	8780	broad.mit.edu	37	18	21047484	21047484	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr18:21047484G>T	uc002kui.3	+	7	1426	c.809G>T	c.(808-810)GGA>GTA	p.G270V	RIOK3_uc010dls.2_Missense_Mutation_p.G270V|RIOK3_uc010xas.1_Missense_Mutation_p.G254V|RIOK3_uc010xat.1_Nonsense_Mutation_p.E62*	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	270	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATGCATATGGAGGGAGGTAA	0.363		NA											17	64					7.05e-17	7.71e-17	1	0
FAM108A1	81926	broad.mit.edu	37	19	1877366	1877366	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:1877366C>T	uc002lug.2	-	5	1172	c.766G>A	c.(766-768)GAG>AAG	p.E256K	FAM108A1_uc002lud.2_Silent_p.T224T|FAM108A1_uc002lue.2_3'UTR|FAM108A1_uc002luf.2_Missense_Mutation_p.E307K	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	256						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)		TCGATCACCTCGTCCTCCGTG	0.622		NA											3	17					0	0	0	0
TJP3	27134	broad.mit.edu	37	19	3747947	3747947	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:3747947G>T	uc010xhv.1	+	18	2577	c.2577G>T	c.(2575-2577)GAG>GAT	p.E859D	TJP3_uc010xhs.1_Missense_Mutation_p.E826D|TJP3_uc010xht.1_Missense_Mutation_p.E790D|TJP3_uc010xhu.1_Missense_Mutation_p.E835D|TJP3_uc010xhw.1_Missense_Mutation_p.E845D	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	840						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACGGCGAGGGGGGGCCCT	0.697		NA											10	16					1.59e-06	1.68e-06	1	0
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090691G>A	uc002mmq.1	-	36	2723	c.2637C>T	c.(2635-2637)TTC>TTT	p.F879F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	879	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)			TTGGCCCAGGGAATCCTGGAG	0.612		NA											5	19					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10090711	10090711	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090711G>A	uc002mmq.1	-	36	2703	c.2617C>T	c.(2617-2619)CTG>TTG	p.L873L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	873	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)			GGGCCTTGCAGACCAGGGAGG	0.602		NA											6	16					0	0	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145805	11145805	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11145805C>G	uc002mqf.3	+	29	4451	c.4167C>G	c.(4165-4167)CTC>CTG	p.L1389L	SMARCA4_uc010dxp.2_Silent_p.L1389L|SMARCA4_uc010dxo.2_Silent_p.L1389L|SMARCA4_uc010dxq.2_Silent_p.L1356L|SMARCA4_uc010dxr.2_Silent_p.L1356L|SMARCA4_uc002mqj.3_Silent_p.L1356L|SMARCA4_uc010dxs.2_Silent_p.L1356L|SMARCA4_uc010dxt.1_Silent_p.L576L|SMARCA4_uc002mqh.3_Silent_p.L479L|SMARCA4_uc002mqi.1_Silent_p.L559L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGTGGCTCAAGGTACATG	0.657		NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				26	25					0	0	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152041	11152041	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11152041C>T	uc002mqf.3	+	30	4513	c.4229C>T	c.(4228-4230)TCA>TTA	p.S1410L	SMARCA4_uc010dxp.2_Missense_Mutation_p.S1410L|SMARCA4_uc010dxo.2_Missense_Mutation_p.S1442L|SMARCA4_uc010dxq.2_Missense_Mutation_p.S1377L|SMARCA4_uc010dxr.2_Missense_Mutation_p.S1377L|SMARCA4_uc002mqj.3_Missense_Mutation_p.S1380L|SMARCA4_uc010dxs.2_Missense_Mutation_p.S1380L|SMARCA4_uc002mqh.3_Missense_Mutation_p.S500L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1410					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGAAATCATCACGGAAGCGC	0.607		NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				105	61					0	0	0	0
ZNF439	90594	broad.mit.edu	37	19	11978656	11978656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11978656C>T	uc002mss.2	+	3	900	c.772C>T	c.(772-774)CGA>TGA	p.R258*	ZNF439_uc002msr.2_Nonsense_Mutation_p.R122*	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	258	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGCTACCCATCGAATACATGA	0.383		NA											64	67					0	0	0	0
ZNF791	163049	broad.mit.edu	37	19	12739575	12739575	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:12739575C>T	uc002mua.2	+	4	1394	c.1232C>T	c.(1231-1233)CCC>CTC	p.P411L	ZNF791_uc010xml.1_Missense_Mutation_p.P379L|ZNF791_uc010dyu.1_Missense_Mutation_p.P302L|ZNF791_uc010xmm.1_Missense_Mutation_p.P302L	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGAGAAAAACCCTATGAGTGT	0.393		NA											38	162					0	0	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769192	15769192	+	Silent	SNP	C	C	A	rs142036643	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:15769192C>A	uc002nbj.2	+	10	1284	c.1234C>A	c.(1234-1236)CGG>AGG	p.R412R	CYP4F3_uc010xok.1_Silent_p.R412R|CYP4F3_uc010xol.1_Silent_p.R412R|CYP4F3_uc010xom.1_Silent_p.R263R|CYP4F3_uc002nbk.2_Silent_p.R412R|CYP4F3_uc010xon.1_Silent_p.R122R	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	412					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CCCAGACGGCCGGGTCATCCC	0.642		NA											14	85					0.00185496	0.00190778	1	0
TMEM59L	25789	broad.mit.edu	37	19	18729056	18729056	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:18729056C>T	uc002njy.3	+	6	843	c.756C>T	c.(754-756)GAC>GAT	p.D252D		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	252						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						AGCCACAGGACAATGACTTCC	0.627		NA											6	42					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22156015	22156015	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:22156015T>C	uc002nqp.2	-	5	1670	c.1521A>G	c.(1519-1521)AAA>AAG	p.K507K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCACCAG	0.368		NA											8	74					0	0	0	0
YIF1B	90522	broad.mit.edu	37	19	38800243	38800243	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:38800243G>A	uc002ohz.2	-	2	148	c.99C>T	c.(97-99)GCC>GCT	p.A33A	YIF1B_uc002ohw.2_Silent_p.A2A|YIF1B_uc002ohx.2_Silent_p.A18A|YIF1B_uc010xtx.1_Silent_p.A16A|YIF1B_uc010xty.1_Silent_p.A2A|YIF1B_uc002oia.2_Silent_p.A30A|YIF1B_uc002ohy.2_Silent_p.A30A|YIF1B_uc002oib.2_Silent_p.A30A	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	33	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGGGGGTCGGCCATGCCCG	0.642		NA											4	11					0	0	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387649	41387649	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:41387649T>A	uc002opm.2	-	2	730	c.188A>T	c.(187-189)GAG>GTG	p.E63V	CYP2A7_uc002opo.2_Missense_Mutation_p.E63V|CYP2A7_uc002opn.2_Intron	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	63						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCATAGCACTCACTGAACTG	0.622		NA											3	15					0	0	0	0
CIC	23152	broad.mit.edu	37	19	42799110	42799110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:42799110G>T	uc002otf.1	+	20	4634	c.4594G>T	c.(4594-4596)GAG>TAG	p.E1532*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1532	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)				CCCTGGAGCTGAGGCTCCTCT	0.343		NA	T	DUX4	soft tissue sarcoma								7	37					0.00448238	0.00460231	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630370	51630370	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:51630370G>T	uc002pvu.2	+	4	899	c.832G>T	c.(832-834)GAC>TAC	p.D278Y	SIGLEC9_uc010yct.1_Missense_Mutation_p.D278Y	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	278	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGATGCAGTTGACAGCAATCC	0.572		NA											16	124					9.17e-09	9.81e-09	1	0
LENG1	79165	broad.mit.edu	37	19	54662148	54662148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:54662148C>T	uc002qdm.2	-	2	197	c.184G>A	c.(184-186)GAG>AAG	p.E62K		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	62										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTTCAAGCTCAGGCAGTGAG	0.527		NA											19	118					0	0	0	0
AGBL5	60509	broad.mit.edu	37	2	27278818	27278818	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27278818G>A	uc002rie.2	+	7	1394	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K	AGBL5_uc002ric.2_Missense_Mutation_p.E393K|AGBL5_uc002rid.2_Missense_Mutation_p.E393K|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	393					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAACAAACAGAGCCAGCAGA	0.522		NA											27	118					0	0	0	0
PPM1G	5496	broad.mit.edu	37	2	27609064	27609064	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27609064C>T	uc002rkl.2	-	4	380	c.273G>A	c.(271-273)CAG>CAA	p.Q91Q	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	91					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GACAGACCTTCTGTAGCTTGC	0.473		NA											65	232					0	0	0	0
IFT172	26160	broad.mit.edu	37	2	27680753	27680753	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27680753C>T	uc002rku.2	-	28	3117	c.3066G>A	c.(3064-3066)AAG>AAA	p.K1022K		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1022					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTGGATGGTGCTTCCCTACCA	0.522		NA											22	58					0	0	0	0
PSME4	23198	broad.mit.edu	37	2	54112830	54112830	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:54112830G>A	uc002rxp.2	-	41	4868	c.4812C>T	c.(4810-4812)TTC>TTT	p.F1604F	PSME4_uc010yop.1_Silent_p.F1490F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.F979F|PSME4_uc010fbv.1_Silent_p.F748F|PSME4_uc010fbt.1_Silent_p.F91F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1604					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTTACCTTGAAAAACAAAG	0.363		NA											9	34					0	0	0	0
ACTR2	10097	broad.mit.edu	37	2	65492283	65492283	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:65492283T>C	uc002sdq.2	+	8	1203	c.988T>C	c.(988-990)TTG>CTG	p.L330L	ACTR2_uc010yqf.1_Silent_p.L275L|ACTR2_uc002sdp.2_Silent_p.L335L|ACTR2_uc010yqg.1_Silent_p.L278L	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	330					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						AGAACGAGTTTTGAAGGGTGA	0.368		NA											43	122					0	0	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002483	69002483	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:69002483G>A	uc002seu.2	+	2	556	c.192G>A	c.(190-192)CAG>CAA	p.Q64Q	ARHGAP25_uc010yqk.1_Silent_p.Q38Q|ARHGAP25_uc010fdg.2_Silent_p.Q64Q|ARHGAP25_uc010yql.1_Silent_p.Q64Q|ARHGAP25_uc002sev.2_Silent_p.Q57Q|ARHGAP25_uc002sew.2_Silent_p.Q57Q|ARHGAP25_uc002sex.2_Silent_p.Q57Q|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	64	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						AGAACTGGCAGCAGAGGTACT	0.567		NA											4	226					0	0	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71186202	71186202	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:71186202C>T	uc002shj.2	+	5	509	c.422C>T	c.(421-423)GCG>GTG	p.A141V	ATP6V1B1_uc002shi.1_Missense_Mutation_p.A141V|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.A141V|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.A99V	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	141					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GTGGTCATGGCGGAGGACTTT	0.582		NA											5	55					0	0	0	0
MRPL53	116540	broad.mit.edu	37	2	74699368	74699368	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:74699368G>A	uc002sln.2	-	3	357	c.217C>T	c.(217-219)CGC>TGC	p.R73C	CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	73						mitochondrion|ribosome					0						ATAATCAGGCGATGCCCGTCT	0.682		NA											11	36					0	0	0	0
C2orf29	55571	broad.mit.edu	37	2	101881353	101881353	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:101881353T>C	uc002taw.3	+	4	961	c.879T>C	c.(877-879)ATT>ATC	p.I293I		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	293					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CACTCCACATTTGTGAGGATG	0.488		NA											15	74					0	0	0	0
MYO7B	4648	broad.mit.edu	37	2	128384562	128384562	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:128384562C>G	uc002top.2	+	31	4203	c.4150C>G	c.(4150-4152)CAG>GAG	p.Q1384E	MYO7B_uc002toq.1_Missense_Mutation_p.Q237E|MYO7B_uc002tor.1_Missense_Mutation_p.Q237E	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1384	FERM 1.					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)		CCCATACACTCAGAAGCAAGT	0.597		NA											6	15					0	0	0	0
TANC1	85461	broad.mit.edu	37	2	160019983	160019983	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:160019983C>G	uc002uag.2	+	8	1146	c.872C>G	c.(871-873)TCA>TGA	p.S291*	TANC1_uc010fol.1_Nonsense_Mutation_p.S185*|TANC1_uc010zcm.1_Nonsense_Mutation_p.S290*|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	291						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCAGAATCCTCAGCTGGAGAT	0.572		NA											19	51					0	0	0	0
PPIG	9360	broad.mit.edu	37	2	170493609	170493609	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493609G>A	uc002uez.2	+	14	2061	c.1841G>A	c.(1840-1842)GGA>GAA	p.G614E	PPIG_uc010fpx.2_Missense_Mutation_p.G599E|PPIG_uc010fpy.2_Missense_Mutation_p.G607E|PPIG_uc002ufb.2_Missense_Mutation_p.G614E|PPIG_uc002ufd.2_Missense_Mutation_p.G611E	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	614	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	ACACCACCAGGAAGATCAAGA	0.463		NA											6	30					0	0	0	0
PPIG	9360	broad.mit.edu	37	2	170493718	170493718	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493718G>C	uc002uez.2	+	14	2170	c.1950G>C	c.(1948-1950)AAG>AAC	p.K650N	PPIG_uc010fpx.2_Missense_Mutation_p.K635N|PPIG_uc010fpy.2_Missense_Mutation_p.K643N|PPIG_uc002ufb.2_Missense_Mutation_p.K650N|PPIG_uc002ufd.2_Missense_Mutation_p.K647N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	650					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	AAGAGAGTAAGAGCTCACACA	0.388		NA											10	63					0	0	0	0
KLHL23	151230	broad.mit.edu	37	2	170592202	170592202	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170592202C>G	uc002ufh.1	+	4	1016	c.678C>G	c.(676-678)ATC>ATG	p.I226M	KLHL23_uc002ufi.1_Missense_Mutation_p.I226M	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	226	BACK.										0						TGAGCTATATCAACATTGATA	0.388		NA											9	38					0	0	0	0
UBR3	130507	broad.mit.edu	37	2	170897435	170897435	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170897435C>T	uc010zdi.1	+	32	4600	c.4600C>T	c.(4600-4602)CAT>TAT	p.H1534Y	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.H355Y|UBR3_uc002uft.3_Missense_Mutation_p.H391Y|UBR3_uc010zdj.1_Missense_Mutation_p.H225Y|UBR3_uc002ufu.3_Missense_Mutation_p.H40Y	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1534					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AATTCTTTATCATGATGTAAC	0.328		NA											22	46					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179412921	179412921	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179412921C>T	uc010zfg.1	-	288	85952	c.85728G>A	c.(85726-85728)CGG>CGA	p.R28576R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R22271R|TTN_uc010zfi.1_Silent_p.R22204R|TTN_uc010zfj.1_Silent_p.R22079R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29503							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)			AGCCAGTGATCCGGCTGCCTC	0.493		NA											75	201					0	0	0	0
ITGA4	3676	broad.mit.edu	37	2	182322416	182322416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:182322416G>A	uc002unu.2	+	1	798	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	ITGA4_uc002unt.2_Missense_Mutation_p.R12Q|ITGA4_uc010zfl.1_Missense_Mutation_p.R12Q	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	12					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCGGCCCCCGAAGGGCCGCC	0.662		NA											7	17					0	0	0	0
GLS	2744	broad.mit.edu	37	2	191745874	191745874	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191745874A>C	uc002usf.2	+	1	328	c.64A>C	c.(64-66)AGC>CGC	p.S22R	GLS_uc002usd.2_Missense_Mutation_p.S22R|GLS_uc002use.2_Missense_Mutation_p.S22R	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	22					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGCCGGCGTGAGCGCGACTCT	0.592		NA											3	9					0	0	0	0
STAT1	6772	broad.mit.edu	37	2	191845388	191845388	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191845388G>A	uc002usj.2	-	19	1978	c.1590C>T	c.(1588-1590)AAC>AAT	p.N530N	STAT1_uc010fse.1_Silent_p.N530N|STAT1_uc002usk.2_Silent_p.N530N|STAT1_uc002usl.2_Silent_p.N532N|STAT1_uc010fsf.1_Silent_p.N342N	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	530					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CGGGGCTGGCGTTAGGACCTA	0.433		NA											15	43					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196801362	196801362	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:196801362T>C	uc002utj.3	-	20	3334	c.3233A>G	c.(3232-3234)GAA>GGA	p.E1078G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CTCAAGAAGTTCATCATTGGA	0.299		NA											20	92					0	0	0	0
NIF3L1	60491	broad.mit.edu	37	2	201757020	201757020	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:201757020G>A	uc002uwm.2	+	2	445	c.354G>A	c.(352-354)GAG>GAA	p.E118E	NIF3L1_uc002uwl.2_Silent_p.E91E|NIF3L1_uc002uwn.2_Silent_p.E91E|NIF3L1_uc002uwo.2_Silent_p.E118E|NIF3L1_uc002uwp.2_Silent_p.E118E|NIF3L1_uc002uwq.2_Silent_p.E118E	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	118					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GGGCTCTGGAGAACAGAGTCG	0.547		NA											22	88					0	0	0	0
LANCL1	10314	broad.mit.edu	37	2	211319997	211319997	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:211319997C>T	uc010zjh.1	-	4	316	c.241G>A	c.(241-243)GAC>AAC	p.D81N	LANCL1_uc002ved.2_Missense_Mutation_p.D81N|LANCL1_uc010fuq.2_Missense_Mutation_p.D81N	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	81						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGGCAGGGTCCCCAAATACA	0.403		NA											18	47					0	0	0	0
PTPRN	5798	broad.mit.edu	37	2	220167381	220167381	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:220167381C>G	uc002vkz.2	-	5	645	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	PTPRN_uc010zlc.1_Missense_Mutation_p.E96Q|PTPRN_uc002vla.2_Missense_Mutation_p.E186Q	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	186	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCAGGTGCTCCAAGAGAGGC	0.627		NA											11	41					0	0	0	0
MCM8	84515	broad.mit.edu	37	20	5932702	5932702	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:5932702G>A	uc002wmi.2	+	2	418	c.41G>A	c.(40-42)AGA>AAA	p.R14K	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.R14K|MCM8_uc002wmk.2_Missense_Mutation_p.R14K|MCM8_uc002wml.2_Missense_Mutation_p.R14K|MCM8_uc010gbp.2_Missense_Mutation_p.R14K	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	14					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GGACGAGGAAGATTTCAAAGC	0.413		NA											17	47					0	0	0	0
RIN2	54453	broad.mit.edu	37	20	19937330	19937330	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:19937330A>G	uc002wro.1	+	3	266	c.230A>G	c.(229-231)TAT>TGT	p.Y77C	RIN2_uc010gcu.1_Missense_Mutation_p.Y77C|RIN2_uc010gcv.1_5'UTR	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	77					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GACTCAGGCTATGACAGCCTC	0.587		NA											6	21					0	0	0	0
DNMT3B	1789	broad.mit.edu	37	20	31380492	31380492	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:31380492C>G	uc002wyc.2	+	9	1303	c.982C>G	c.(982-984)CAG>GAG	p.Q328E	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.Q328E|DNMT3B_uc002wye.2_Missense_Mutation_p.Q328E|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.Q286E|DNMT3B_uc010zua.1_Missense_Mutation_p.Q252E|DNMT3B_uc002wyf.2_Missense_Mutation_p.Q340E|DNMT3B_uc002wyg.2_Missense_Mutation_p.Q27E	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	328					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						ATTGGAGGACCAGCTGAAGCC	0.612		NA											22	64					0	0	0	0
RBL1	5933	broad.mit.edu	37	20	35695270	35695270	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:35695270G>A	uc002xgi.2	-	6	782	c.703C>T	c.(703-705)CAT>TAT	p.H235Y	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.H235Y|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	235					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)				TCAGCAGTATGAAAATCAGAT	0.383		NA											20	72					0	0	0	0
NCOA3	8202	broad.mit.edu	37	20	46265274	46265274	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:46265274C>T	uc002xtk.2	+	12	2349	c.2144C>T	c.(2143-2145)TCT>TTT	p.S715F	NCOA3_uc010ght.1_Missense_Mutation_p.S725F|NCOA3_uc002xtl.2_Missense_Mutation_p.S715F|NCOA3_uc002xtm.2_Missense_Mutation_p.S715F|NCOA3_uc002xtn.2_Missense_Mutation_p.S715F|NCOA3_uc010zyc.1_Missense_Mutation_p.S510F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	715					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AGTATAACTTCTTGTGGGGAC	0.473		NA											22	64					0	0	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514189	58514189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:58514189G>C	uc002ybb.2	-	1	1164	c.798C>G	c.(796-798)TAC>TAG	p.Y266*	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	266	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TGTTGTCCCAGTACTCGGCAC	0.617		NA											20	35					0	0	0	0
NTSR1	4923	broad.mit.edu	37	20	61386205	61386205	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61386205G>A	uc002ydf.2	+	2	1254	c.883G>A	c.(883-885)GTC>ATC	p.V295I		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	295	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCTGGCAGGGTCCAGGCCCT	0.692		NA											9	28					0	0	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61917778	61917778	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61917778G>C	uc002yem.2	+	12	1007	c.895G>C	c.(895-897)GAG>CAG	p.E299Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.E254Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E186Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E307Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.Q378H|ARFGAP1_uc002yeo.1_RNA|hsa-mir-4326|MI0015866_5'Flank	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	299					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GGGGAAAGCAGAGGGCCCCTT	0.627		NA											5	32					0	0	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738005	62738005	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:62738005C>G	uc011abt.1	-	1	180	c.180G>C	c.(178-180)CTG>CTC	p.L60L		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	60	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTTGCCAGTCAGCCCCACAG	0.607		NA											17	35					0	0	0	0
GART	2618	broad.mit.edu	37	21	34903798	34903798	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:34903798C>T	uc002yrx.2	-	6	729	c.594G>A	c.(592-594)GTG>GTA	p.V198V	GART_uc002yrz.2_Silent_p.V198V|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Silent_p.V198V|GART_uc002ysa.2_Silent_p.V198V	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	198	ATP (By similarity).|ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	TACATACCGACACCTCTTCTC	0.363		NA											39	195					0	0	0	0
ITSN1	6453	broad.mit.edu	37	21	35093561	35093561	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:35093561C>G	uc002yta.1	+	3	375	c.107C>G	c.(106-108)TCT>TGT	p.S36C	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.S36C|ITSN1_uc010gmg.2_Missense_Mutation_p.S36C|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.S36C|ITSN1_uc010gmi.2_Missense_Mutation_p.S36C|ITSN1_uc010gmj.2_Translation_Start_Site|ITSN1_uc002ysy.2_Missense_Mutation_p.S36C|ITSN1_uc002ysx.2_Missense_Mutation_p.S36C|ITSN1_uc002ytb.1_Missense_Mutation_p.S36C|ITSN1_uc002ytc.1_Missense_Mutation_p.S36C|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.S36C|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.S36C|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_5'Flank	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	36	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						AAGCCAATATCTGGATTCATT	0.398		NA											19	68					0	0	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133697	21133697	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:21133697G>C	uc002ztb.1	+	2	164	c.97G>C	c.(97-99)GAA>CAA	p.E33Q	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E61Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	33					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GAAAGGAGGGGAAACTGCTCA	0.493		NA											9	65					0	0	0	0
RNF185	91445	broad.mit.edu	37	22	31592944	31592944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:31592944C>G	uc003akb.2	+	5	531	c.331C>G	c.(331-333)CAA>GAA	p.Q111E	RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_Missense_Mutation_p.Q49E|RNF185_uc003akc.2_Missense_Mutation_p.Q49E|RNF185_uc003ake.2_Intron	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	ring finger protein 185 isoform 1	111						integral to membrane	zinc ion binding				0						TCCTCGTCCTCAAGGACAGAG	0.458		NA											14	104					0	0	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289694	32289694	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:32289694A>T	uc003als.2	+	38	4209	c.4067A>T	c.(4066-4068)AAG>ATG	p.K1356M	DEPDC5_uc011als.1_Missense_Mutation_p.K1287M|DEPDC5_uc011alu.1_Missense_Mutation_p.K1387M|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.K1378M|DEPDC5_uc003alu.2_Missense_Mutation_p.K805M|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.K654M|DEPDC5_uc011alx.1_Missense_Mutation_p.K204M|DEPDC5_uc010gwk.2_Missense_Mutation_p.K382M|DEPDC5_uc011aly.1_Missense_Mutation_p.K204M	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1356					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TTTGAGATCAAGCTGCACTGG	0.537		NA											29	61					0	0	0	0
MGAT3	4248	broad.mit.edu	37	22	39883475	39883475	+	Silent	SNP	C	C	T	rs145462426	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39883475C>T	uc003axv.3	+	2	362	c.123C>T	c.(121-123)CTC>CTT	p.L41L	MGAT3_uc010gxy.2_Silent_p.L41L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	41	Lumenal (Potential).|Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TGGCCTCCCTCAGCCCTAACC	0.602		NA											66	300					0	0	0	0
MGAT3	4248	broad.mit.edu	37	22	39884111	39884111	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39884111C>G	uc003axv.3	+	2	998	c.759C>G	c.(757-759)TTC>TTG	p.F253L	MGAT3_uc010gxy.2_Missense_Mutation_p.F253L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	253	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CGCTCAAGTTCCGGGAGATGC	0.642		NA											16	81					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:41553402G>A	uc003azl.3	+	18	3886	c.3491G>A	c.(3490-3492)TGT>TAT	p.C1164Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1164					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						GGATACTGTTGTGGCAGAAAG	0.393		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				35	108					0	0	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657755	46657755	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:46657755C>T	uc003bhh.2	-	1	1465	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	489	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTATAGAAATCACGGCTTGCA	0.378		NA											59	293					0	0	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193380	47193380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:47193380C>G	uc003bib.2	+	4	635	c.500C>G	c.(499-501)TCT>TGT	p.S167C	TBC1D22A_uc010haf.2_Missense_Mutation_p.S137C|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.S120C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	167						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGGTCCCAGTCTCTCCCACAC	0.652		NA									OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	92					0	0	0	0
SHANK3	85358	broad.mit.edu	37	22	51137179	51137179	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:51137179C>T	uc003bne.1	+	13	1608	c.1608C>T	c.(1606-1608)TTC>TTT	p.F536F	SHANK3_uc003bnf.1_5'UTR	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	536										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGGCTGGTTCCCGGCCGACT	0.667		NA											10	48					0	0	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561343	52561343	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52561343G>C	uc003deo.2	-	10	1399	c.975C>G	c.(973-975)ATC>ATG	p.I325M	NT5DC2_uc003dem.2_Missense_Mutation_p.I195M|NT5DC2_uc003den.2_Missense_Mutation_p.I362M|NT5DC2_uc010hmi.2_Missense_Mutation_p.I337M|NT5DC2_uc010hmj.2_Missense_Mutation_p.I141M	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	325							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAAGCGGGTGATCCGGTCCC	0.612		NA											25	37					0	0	0	0
PBRM1	55193	broad.mit.edu	37	3	52675991	52675991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52675991C>A	uc003des.2	-	10	1078	c.1066G>T	c.(1066-1068)GAA>TAA	p.E356*	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.E356*|PBRM1_uc003der.2_Nonsense_Mutation_p.E324*|PBRM1_uc003det.2_Nonsense_Mutation_p.E356*|PBRM1_uc003deu.2_Nonsense_Mutation_p.E356*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.E356*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.E356*|PBRM1_uc003dey.2_Nonsense_Mutation_p.E356*|PBRM1_uc003dez.1_Nonsense_Mutation_p.E356*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.E254*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	356					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)		GCATCTTCTTCACTTTCTGAG	0.368		NA	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								78	177					1.02e-41	1.13e-41	1	0
TMEM45A	55076	broad.mit.edu	37	3	100277257	100277257	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:100277257T>G	uc003dtz.1	+	4	725	c.412T>G	c.(412-414)TTC>GTC	p.F138V	TMEM45A_uc003dua.1_Missense_Mutation_p.F154V	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral to membrane				skin(2)|ovary(1)	3						AGCCTTTATCTTCTACAACCA	0.478		NA											36	98					0	0	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641670	121641670	+	Nonsense_Mutation	SNP	C	C	T	rs145317059	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:121641670C>T	uc003eep.2	+	9	982	c.829C>T	c.(829-831)CGA>TGA	p.R277*	SLC15A2_uc011bjn.1_Nonsense_Mutation_p.R246*	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	277					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CATTCCAAAGCGACAGCACTG	0.428		NA											21	36					0	0	0	0
ACPP	55	broad.mit.edu	37	3	132086633	132086633	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:132086633C>G	uc003eop.3	+	11	1314	c.1224C>G	c.(1222-1224)CTC>CTG	p.L408L		NM_001134194	NP_001127666	P15309	PPAP_HUMAN	acid phosphatase, prostate long isoform	Error:Variant_position_missing_in_P15309_after_alignment						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						GCCGTGGACTCTGCTGGCAGA	0.483		NA											7	323					0	0	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720782	135720782	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:135720782T>C	uc003eqv.1	+	2	1007	c.442T>C	c.(442-444)TCT>CCT	p.S148P	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	148					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GAAAGTTAAGTCTGACTCATT	0.403		NA											30	66					0	0	0	0
ZIC1	7545	broad.mit.edu	37	3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:147128485G>A	uc003ewe.2	+	1	1305	c.586G>A	c.(586-588)GGC>AGC	p.G196S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	196					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGCTGCACGGCTACGGGCC	0.652		NA											14	44					0	0	0	0
KLHL6	89857	broad.mit.edu	37	3	183209891	183209891	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:183209891C>T	uc003flr.2	-	7	1748	c.1690G>A	c.(1690-1692)GGC>AGC	p.G564S	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	564	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCCCGCCCGCCGGTGATGTAG	0.672		NA											30	78					0	0	0	0
EHHADH	1962	broad.mit.edu	37	3	184910588	184910588	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:184910588G>A	uc003fpf.2	-	7	1625	c.1598C>T	c.(1597-1599)TCT>TTT	p.S533F	EHHADH_uc011brs.1_Missense_Mutation_p.S437F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	533	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTCTAGATTTCCAGCC	0.483		NA											23	63					0	0	0	0
HTT	3064	broad.mit.edu	37	4	3219628	3219628	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:3219628C>T	uc011bvq.1	+	53	7342	c.7197C>T	c.(7195-7197)ATC>ATT	p.I2399I		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2397	Nuclear export signal (By similarity).				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)		ACATCATCATCAGCCTGGCCC	0.567		NA											20	54					0	0	0	0
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:77283442C>G	uc003hkb.3	-	12	2010	c.1857G>C	c.(1855-1857)AAG>AAC	p.K619N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619	Potential.									skin(3)|ovary(2)|pancreas(1)	6						GCTCCCGGATCTTTGCATCTT	0.393		NA											30	143					0	0	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414577	85414577	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:85414577G>A	uc003hpa.1	-	3	975	c.969C>T	c.(967-969)GAC>GAT	p.D323D		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	323	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612		NA											29	80					0	0	0	0
PDE5A	8654	broad.mit.edu	37	4	120481508	120481508	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:120481508G>C	uc003idh.2	-	7	1297	c.1142C>G	c.(1141-1143)TCT>TGT	p.S381C	PDE5A_uc003idf.2_Missense_Mutation_p.S339C|PDE5A_uc003idg.2_Missense_Mutation_p.S329C	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	381	GAF 2.			S -> F (in Ref. 9; AAP31235).	platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323		NA											7	42					0	0	0	0
CDH18	1016	broad.mit.edu	37	5	19571716	19571716	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:19571716C>G	uc003jgc.2	-	7	1602	c.1225G>C	c.(1225-1227)GAT>CAT	p.D409H	CDH18_uc003jgd.2_Missense_Mutation_p.D409H|CDH18_uc011cnm.1_Missense_Mutation_p.D409H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	409	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCAGGATCTTGTGCCAAA	0.393		NA											23	69					0	0	0	0
C9	735	broad.mit.edu	37	5	39341263	39341263	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:39341263C>T	uc003jlv.3	-	4	550	c.461G>A	c.(460-462)CGA>CAA	p.R154Q		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	154	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCTGCTGTTCGTGCCAGCTC	0.458		NA											40	90					0	0	0	0
C6	729	broad.mit.edu	37	5	41158799	41158799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:41158799G>A	uc003jmk.2	-	13	2155	c.1945C>T	c.(1945-1947)CCT>TCT	p.P649S	C6_uc003jml.1_Missense_Mutation_p.P649S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	649	Sushi 1.|C5b-binding domain.				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)				TTTTCTGGAGGAACTGGCTGA	0.398		NA											10	64					0	0	0	0
IL6ST	3572	broad.mit.edu	37	5	55253084	55253084	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:55253084C>G	uc003jqq.2	-	9	1264	c.1009G>C	c.(1009-1011)GAT>CAT	p.D337H	IL6ST_uc010iwb.2_Missense_Mutation_p.D337H|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.D48H|IL6ST_uc003jqr.2_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	337	Extracellular (Potential).|Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGATGGATCTATTTTATAC	0.274		NA	O		hepatocellular ca								13	112					0	0	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408598	80408598	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:80408598C>A	uc003kha.1	+	14	2008	c.2008C>A	c.(2008-2010)CGT>AGT	p.R670S	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	670	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCACACCTATCGTATTTTCAC	0.507		NA											4	200					0.000602214	0.000620402	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764430	140764430	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:140764430C>T	uc003lka.1	+	1	1964	c.1964C>T	c.(1963-1965)TCA>TTA	p.S655L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S655L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	655	Extracellular (Potential).|Cadherin 6.				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)			CCTCCTCTGTCAGCCACCGTC	0.652		NA											12	29					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150947251	150947251	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:150947251C>G	uc003lue.3	-	1	1255	c.1242G>C	c.(1240-1242)TTG>TTC	p.L414F	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L414F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	414	Extracellular (Potential).|Cadherin 3.				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)			TGGTGGTGATCAACCCAGTTC	0.512		NA											20	106					0	0	0	0
CPEB4	80315	broad.mit.edu	37	5	173359491	173359491	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:173359491C>T	uc003mcs.3	+	3	2652	c.1246C>T	c.(1246-1248)CTG>TTG	p.L416L	CPEB4_uc010jju.1_Intron|CPEB4_uc010jjv.2_Intron|CPEB4_uc011dfg.1_Intron|CPEB4_uc003mct.3_Silent_p.L34L|CPEB4_uc003mcu.3_Intron	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	416							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGATAGCTCTCTGCTTATTAA	0.353		NA											20	63					0	0	0	0
SQSTM1	8878	broad.mit.edu	37	5	179260066	179260066	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:179260066G>A	uc003mkw.3	+	6	884	c.789G>A	c.(787-789)GGG>GGA	p.G263G	SQSTM1_uc011dgr.1_Silent_p.G179G|SQSTM1_uc011dgs.1_Silent_p.G179G|SQSTM1_uc003mkv.3_Silent_p.G263G|SQSTM1_uc003mkx.2_Silent_p.G179G	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	263					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGAGGGAAAAGAAGCC	0.587		NA							Paget_Disease_of_Bone				5	76					0	0	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10707720	10707720	+	Silent	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:10707720C>A	uc003mzg.2	+	8	844	c.813C>A	c.(811-813)ATC>ATA	p.I271I		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	271	WD 5.				negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGTTTCATCAAAATGTGGA	0.343		NA											31	124					2.81e-11	3.03e-11	1	0
NEDD9	4739	broad.mit.edu	37	6	11213915	11213915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:11213915C>T	uc003mzv.2	-	2	225	c.58G>A	c.(58-60)GAG>AAG	p.E20K	NEDD9_uc010joz.2_Missense_Mutation_p.E20K|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.2_Missense_Mutation_p.E20K	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	20	SH3.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCAGTTCCTCGGCACACTCT	0.522		NA											13	66					0	0	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839692	27839692	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839692C>G	uc003njy.2	-	1	408	c.402G>C	c.(400-402)GAG>GAC	p.E134D		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						TTTATGCCCTCTCCCCTCGGA	0.507		NA											23	233					0	0	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839802	27839802	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839802C>T	uc003njy.2	-	1	298	c.292G>A	c.(292-294)GAG>AAG	p.E98K		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AGGTAGGCCTCGCAAGCCTCC	0.572		NA											26	105					0	0	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31516144	31516144	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:31516144G>A	uc003nub.2	+	2	381	c.262G>A	c.(262-264)GGG>AGG	p.G88R	BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Missense_Mutation_p.G65R|NFKBIL1_uc011dns.1_Missense_Mutation_p.G65R|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.G88R	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	88	ANK 1.				cytoplasmic sequestering of transcription factor		protein binding				0						GCTTCGGCTCGGGGCTGACCC	0.697		NA											5	13					0	0	0	0
VPS52	6293	broad.mit.edu	37	6	33237329	33237329	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33237329G>C	uc003odm.1	-	5	520	c.310C>G	c.(310-312)CAA>GAA	p.Q104E	VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_Missense_Mutation_p.Q29E|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	104					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						TCACTCTCTTGAATATCTGAT	0.433		NA											27	90					0	0	0	0
CUTA	51596	broad.mit.edu	37	6	33384884	33384884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33384884T>C	uc003oej.1	-	4	641	c.353A>G	c.(352-354)GAG>GGG	p.E118G	CUTA_uc003oek.1_Missense_Mutation_p.E95G|CUTA_uc003oel.1_Missense_Mutation_p.E95G|CUTA_uc003oem.1_Missense_Mutation_p.E95G|CUTA_uc003oen.1_Missense_Mutation_p.E137G|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank	NM_001014840	NP_001014840	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog isoform	118					protein localization|response to metal ion	membrane	enzyme binding				0						CATCAGCACCTCACTGTCTTC	0.507		NA											22	70					0	0	0	0
C6orf106	64771	broad.mit.edu	37	6	34614570	34614570	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:34614570C>G	uc003ojr.2	-	3	564	c.319G>C	c.(319-321)GAG>CAG	p.E107Q	C6orf106_uc003ojs.2_Intron	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	107										skin(2)|ovary(1)	3						GGCCAGGCCTCTGCCCCTGAG	0.458		NA											44	148					0	0	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773543	35773543	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:35773543C>T	uc003olg.1	+	1	473	c.96C>T	c.(94-96)CTC>CTT	p.L32L		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32	Helical; (Potential).					integral to membrane				skin(1)	1						GGGGTACCCTCACCATCTGCT	0.587		NA											36	103					0	0	0	0
MEP1A	4224	broad.mit.edu	37	6	46793145	46793145	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46793145G>A	uc010jzh.1	+	8	735	c.693G>A	c.(691-693)AAG>AAA	p.K231K	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.K259K|MEP1A_uc011dwi.1_Silent_p.K131K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	231	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TCACAGCCAAGATCCCTGAGT	0.428		NA											23	59					0	0	0	0
GPR116	221395	broad.mit.edu	37	6	46826148	46826148	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46826148G>C	uc003oyo.3	-	17	3781	c.3492C>G	c.(3490-3492)CTC>CTG	p.L1164L	GPR116_uc011dwj.1_Silent_p.L719L|GPR116_uc011dwk.1_Silent_p.L593L|GPR116_uc003oyp.3_Silent_p.L1022L|GPR116_uc003oyq.3_Silent_p.L1164L|GPR116_uc010jzi.1_Silent_p.L836L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1164	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552		NA											18	39					0	0	0	0
REV3L	5980	broad.mit.edu	37	6	111697184	111697184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:111697184G>A	uc003puy.3	-	13	2697	c.2374C>T	c.(2374-2376)CAA>TAA	p.Q792*	REV3L_uc003pux.3_Nonsense_Mutation_p.Q714*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q714*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	792					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGTGCTGCTTGCTGGCTGAGG	0.358		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					26	125					0	0	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671180	112671180	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:112671180C>G	uc003pvx.1	+	3	582	c.270C>G	c.(268-270)CTC>CTG	p.L90L		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGGAGGAGCTCCGGCATTTTC	0.527		NA											4	55					0	0	0	0
ZUFSP	221302	broad.mit.edu	37	6	116987891	116987891	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:116987891T>A	uc003pxf.1	-	2	711	c.465A>T	c.(463-465)GAA>GAT	p.E155D	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	155	C2H2-type 2.					intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGAATGGACATTCAGGAGGAC	0.373		NA											19	95					0	0	0	0
TRDN	10345	broad.mit.edu	37	6	123637620	123637620	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:123637620C>T	uc003pzj.1	-	24	1514	c.1492G>A	c.(1492-1494)GAA>AAA	p.E498K	TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	498	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GACATCTTTTCATCTTTTTTA	0.328		NA											19	82					0	0	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:137245833G>C	uc003qhe.2	+	2	1415	c.1250G>C	c.(1249-1251)TGA>TCA	p.*417S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	417					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408		NA											14	37					0	0	0	0
TTLL2	83887	broad.mit.edu	37	6	167754040	167754040	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:167754040C>T	uc003qvs.1	+	3	740	c.652C>T	c.(652-654)CGT>TGT	p.R218C	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	218	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGAGTTATCTCGTGGGAGGGG	0.423		NA											24	69					0	0	0	0
ZNF12	7559	broad.mit.edu	37	7	6730809	6730809	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:6730809C>T	uc003sqt.1	-	5	2318	c.1764G>A	c.(1762-1764)CAG>CAA	p.Q588Q	ZNF12_uc011jxa.1_Silent_p.Q426Q|ZNF12_uc003sqs.1_Silent_p.Q550Q	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	588	C2H2-type 12.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGCTGAATTCTGGCAGAAGG	0.413		NA											14	43					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:11468681G>A	uc003ssf.3	-	14	3388	c.3136C>T	c.(3136-3138)CGC>TGC	p.R1046C		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517		NA								HNSCC(18;0.044)			63	219					0	0	0	0
C7orf30	115416	broad.mit.edu	37	7	23349102	23349102	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23349102C>A	uc003swd.1	+	4	677	c.645C>A	c.(643-645)TTC>TTA	p.F215L	C7orf30_uc003swe.2_RNA	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	215						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			CTGAAGACTTCATTCTTGGAA	0.363		NA											20	70					7.45e-12	8.08e-12	1	0
STK31	56164	broad.mit.edu	37	7	23766884	23766884	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23766884G>C	uc003sws.3	+	5	341	c.274G>C	c.(274-276)GAT>CAT	p.D92H	STK31_uc003swt.3_Missense_Mutation_p.D69H|STK31_uc011jze.1_Missense_Mutation_p.D92H|STK31_uc010kuq.2_Missense_Mutation_p.D69H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	92	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ATTTTCTGAAGATCAGTGTTG	0.289		NA											11	61					0	0	0	0
TRIL	9865	broad.mit.edu	37	7	28996924	28996924	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:28996924G>C	uc003szt.2	-	3	1106	c.739C>G	c.(739-741)CGC>GGC	p.R247G	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	247	Extracellular (Potential).|LRR 8.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						TGGAAGATGCGCGGCCCGAGG	0.697		NA											7	40					0	0	0	0
KBTBD2	25948	broad.mit.edu	37	7	32919190	32919190	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:32919190G>C	uc003tdb.2	-	2	686	c.27C>G	c.(25-27)ATC>ATG	p.I9M	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	9											0			GBM - Glioblastoma multiforme(11;0.0499)			ATTCAGTATTGATCTGCCTCT	0.388		NA											4	24					0	0	0	0
BMPER	168667	broad.mit.edu	37	7	34118698	34118698	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:34118698C>G	uc011kap.1	+	12	1422	c.1308C>G	c.(1306-1308)CTC>CTG	p.L436L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	436	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AGCAGCACCTCACCGTGCGCT	0.652		NA											21	97					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43591890	43591890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:43591890G>A	uc003tid.1	+	28	5070	c.4465G>A	c.(4465-4467)GAA>AAA	p.E1489K	HECW1_uc011kbi.1_Missense_Mutation_p.E1455K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1489	HECT.				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						TGGCACCGCGGAAATCGACCT	0.522		NA											25	95					0	0	0	0
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:70255920C>T	uc003tvw.3	+	19	4461	c.3718C>T	c.(3718-3720)CTG>TTG	p.L1240L	AUTS2_uc003tvx.3_Silent_p.L1216L|AUTS2_uc011keg.1_Silent_p.L692L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1240										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622		NA											6	20					0	0	0	0
SRRM3	222183	broad.mit.edu	37	7	75894128	75894128	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:75894128G>C	uc010ldi.2	+	9	929	c.720G>C	c.(718-720)AAG>AAC	p.K240N	SRRM3_uc011kgi.1_5'Flank	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						ACAAAGAgaagaagaggtaag	0.269		NA											11	43					0	0	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418764	80418764	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:80418764A>G	uc003uhj.2	-	12	1774	c.1212T>C	c.(1210-1212)CAT>CAC	p.H404H	SEMA3C_uc011kgw.1_Silent_p.H422H	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	404	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACATGAGAGGATGGTTCCGAA	0.418		NA											16	125					0	0	0	0
ZNF3	7551	broad.mit.edu	37	7	99669200	99669200	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99669200G>C	uc003usq.2	-	6	1214	c.907C>G	c.(907-909)CAG>GAG	p.Q303E	ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.Q303E|ZNF3_uc010lgj.2_Missense_Mutation_p.Q267E|ZNF3_uc003uss.2_Missense_Mutation_p.Q310E|ZNF3_uc003ust.3_Missense_Mutation_p.Q303E	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	303	C2H2-type 4.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGGATTCTCTGATGGTGGGTG	0.532		NA											12	49					0	0	0	0
MCM7	4176	broad.mit.edu	37	7	99694942	99694942	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99694942C>G	uc003usw.1	-	10	1693	c.1183G>C	c.(1183-1185)GAT>CAT	p.D395H	MCM7_uc003usv.1_Missense_Mutation_p.D219H|MCM7_uc003usx.1_Missense_Mutation_p.D219H	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	395	MCM.				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)	GCCAGTCGATCAATGTATGAC	0.507		NA											13	53					0	0	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:103050935C>T	uc003vbz.2	-	7	868	c.632G>A	c.(631-633)CGT>CAT	p.R211H	SLC26A5_uc003vbt.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbu.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbv.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.R211H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	211	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GGTAAACCCACGGACCAGAGG	0.413		NA											11	48					0	0	0	0
HBP1	26959	broad.mit.edu	37	7	106836328	106836328	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:106836328A>G	uc003vdy.2	+	9	1303	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V	HBP1_uc011klv.1_Missense_Mutation_p.M383V|HBP1_uc003vdz.2_Missense_Mutation_p.M373V|HBP1_uc003vea.2_Missense_Mutation_p.M373V|HBP1_uc003veb.1_Missense_Mutation_p.M373V	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	373					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1						GTTAAGTAGTATGGCTCGCCA	0.373		NA											34	85					0	0	0	0
MKLN1	4289	broad.mit.edu	37	7	131155605	131155605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:131155605G>A	uc011kpm.1	+	16	1997	c.1933G>A	c.(1933-1935)GAA>AAA	p.E645K	MKLN1_uc011kpl.1_Missense_Mutation_p.E622K|MKLN1_uc010lmh.2_Missense_Mutation_p.E645K|MKLN1_uc003vqs.2_Missense_Mutation_p.E438K|MKLN1_uc003vqu.2_Missense_Mutation_p.E135K|MKLN1_uc003vqv.1_RNA	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	645	Kelch 6.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					TTCTAGGTTTGAAGAAAAGGC	0.343		NA											13	49					0	0	0	0
EXOC4	60412	broad.mit.edu	37	7	132959795	132959795	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:132959795G>C	uc003vrk.2	+	2	180	c.145G>C	c.(145-147)GAA>CAA	p.E49Q	EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.E49Q|EXOC4_uc003vrj.2_Missense_Mutation_p.E49Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	49	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TCGCCTTGAAGAAGCCTACGA	0.458		NA											25	56					0	0	0	0
OR9A4	130075	broad.mit.edu	37	7	141618814	141618814	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:141618814A>T	uc003vwu.1	+	1	139	c.139A>T	c.(139-141)ATT>TTT	p.I47F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					CATCATCATGATTGTCTGTGT	0.458		NA											46	113					0	0	0	0
FAM115A	9747	broad.mit.edu	37	7	143573171	143573171	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143573171A>T	uc003wdo.1	-	2	664	c.531T>A	c.(529-531)AGT>AGA	p.S177R	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.S177R	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	177											0	Melanoma(164;0.0903)					TGCCAGCCACACTGGTCACGA	0.517		NA											12	27					0	0	0	0
OR2A2	442361	broad.mit.edu	37	7	143807023	143807023	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143807023G>A	uc011ktz.1	+	1	348	c.348G>A	c.(346-348)GTG>GTA	p.V116V		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TTTTGGTGGTGATGTCCTATG	0.453		NA											47	93					0	0	0	0
ANK1	286	broad.mit.edu	37	8	41557008	41557008	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:41557008C>G	uc003xok.2	-	23	2604	c.2520G>C	c.(2518-2520)GAG>GAC	p.E840D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.E156D|ANK1_uc003xoi.2_Missense_Mutation_p.E840D|ANK1_uc003xoj.2_Missense_Mutation_p.E840D|ANK1_uc003xol.2_Missense_Mutation_p.E840D|ANK1_uc003xom.2_Missense_Mutation_p.E881D	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	840					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTCCTTCTCTTCATCAA	0.577		NA											3	160					0	0	0	0
STMN2	11075	broad.mit.edu	37	8	80577108	80577108	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:80577108G>A	uc003ybj.2	+	5	590	c.539G>A	c.(538-540)TGA>TAA	p.*180*	STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA	NM_007029	NP_008960	Q93045	STMN2_HUMAN	superiorcervical ganglia, neural specific 10	180					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTGTCTGGCTGAAGCAAGGGA	0.483		NA											11	24					0	0	0	0
SYBU	55638	broad.mit.edu	37	8	110592224	110592224	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:110592224G>A	uc003ynj.3	-	5	701	c.538C>T	c.(538-540)CCT>TCT	p.P180S	SYBU_uc003yni.3_Missense_Mutation_p.P177S|SYBU_uc003ynk.3_Missense_Mutation_p.P61S|SYBU_uc010mco.2_Missense_Mutation_p.P179S|SYBU_uc003ynl.3_Missense_Mutation_p.P179S|SYBU_uc010mcp.2_Missense_Mutation_p.P180S|SYBU_uc010mcq.2_Missense_Mutation_p.P180S|SYBU_uc003yno.3_Missense_Mutation_p.P61S|SYBU_uc010mcr.2_Missense_Mutation_p.P180S|SYBU_uc003ynm.3_Missense_Mutation_p.P179S|SYBU_uc003ynn.3_Missense_Mutation_p.P179S|SYBU_uc010mcs.2_Missense_Mutation_p.P61S|SYBU_uc010mct.2_Missense_Mutation_p.P180S|SYBU_uc010mcu.2_Missense_Mutation_p.P179S|SYBU_uc003ynp.3_Missense_Mutation_p.P112S|SYBU_uc010mcv.2_Missense_Mutation_p.P180S|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Missense_Mutation_p.P50S	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	180	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CGCCCATGAGGACCTCGACTG	0.483		NA											28	164					0	0	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051188	126051188	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:126051188C>G	uc003yrt.2	-	25	3297	c.2968G>C	c.(2968-2970)GAC>CAC	p.D990H	KIAA0196_uc011lir.1_Missense_Mutation_p.D842H|KIAA0196_uc003yru.1_Missense_Mutation_p.D564H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	990					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTCAATGTCTGCTAGGAGA	0.353		NA											53	149					0	0	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621295	144621295	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144621295G>A	uc003yyd.2	-	2	271	c.242C>T	c.(241-243)CCG>CTG	p.P81L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	81					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGAGGGTCCCGGGGGCCGATT	0.667		NA											36	114					0	0	0	0
ZNF707	286075	broad.mit.edu	37	8	144776617	144776617	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144776617G>A	uc003yze.3	+	7	1348	c.1033G>A	c.(1033-1035)GAG>AAG	p.E345K	ZNF707_uc010mfh.2_Missense_Mutation_p.E345K|ZNF707_uc010mfi.2_Missense_Mutation_p.E345K|ZNF707_uc003yzf.3_Missense_Mutation_p.E345K|ZNF707_uc003yzh.3_Missense_Mutation_p.E272K|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	345	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGTTCTACGAGTGCGGCCA	0.647		NA											9	26					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	145011230	145011230	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:145011230C>A	uc003zaf.1	-	5	933	c.763G>T	c.(763-765)GTG>TTG	p.V255L	PLEC_uc003zab.1_Missense_Mutation_p.V118L|PLEC_uc003zac.1_Missense_Mutation_p.V122L|PLEC_uc003zad.2_Missense_Mutation_p.V118L|PLEC_uc003zae.1_Missense_Mutation_p.V86L|PLEC_uc003zag.1_Missense_Mutation_p.V96L|PLEC_uc003zah.2_Missense_Mutation_p.V104L|PLEC_uc003zaj.2_Missense_Mutation_p.V145L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	255	CH 1.|Globular 1.|Actin-binding.				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						CTGATGTTCACCAGCTTCACC	0.642		NA											50	67					1.07e-20	1.18e-20	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	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)			5	13					0	0	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755126	72755126	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72755126G>C	uc004ahm.2	+	8	1677	c.1060G>C	c.(1060-1062)GAT>CAT	p.D354H	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	354	MAM 3.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						CTTTTACCAAGATAAAGAAGG	0.453		NA											28	115					0	0	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758548	72758548	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72758548G>C	uc004ahm.2	+	9	1834	c.1217G>C	c.(1216-1218)GGA>GCA	p.G406A	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	406	MAM 3.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TCCCTACCAGGAAACTTGCAG	0.423		NA											24	82					0	0	0	0
SECISBP2	79048	broad.mit.edu	37	9	91973689	91973689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:91973689G>A	uc004aqj.1	+	17	2595	c.2515G>A	c.(2515-2517)GAA>AAA	p.E839K	SECISBP2_uc011ltk.1_Missense_Mutation_p.E838K|SECISBP2_uc004aqk.1_Missense_Mutation_p.E766K|SECISBP2_uc010mqo.1_Missense_Mutation_p.E544K|SECISBP2_uc011ltl.1_Missense_Mutation_p.E771K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	839					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						CCTGGAGCTAGAAGAATCCTT	0.413		NA											7	41					0	0	0	0
WNK2	65268	broad.mit.edu	37	9	96054670	96054670	+	Missense_Mutation	SNP	G	G	A	rs140544829		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:96054670G>A	uc004ati.1	+	22	5128	c.5128G>A	c.(5128-5130)GTC>ATC	p.V1710I	WNK2_uc011lud.1_Missense_Mutation_p.V1673I|WNK2_uc004atj.2_Missense_Mutation_p.V1673I|WNK2_uc004atk.2_Missense_Mutation_p.V1310I|WNK2_uc004atl.1_Missense_Mutation_p.V267I	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GGTCCCCAGCGTCCCCCAGGT	0.562		NA											75	93					0	0	0	0
ROD1	9991	broad.mit.edu	37	9	114986137	114986137	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:114986137T>C	uc004bfw.2	-	15	1840	c.1653A>G	c.(1651-1653)ACA>ACG	p.T551T	ROD1_uc004bfv.2_Silent_p.T557T|ROD1_uc004bfx.2_Silent_p.T554T|ROD1_uc011lwu.1_Silent_p.T523T|ROD1_uc004bfy.2_Silent_p.T456T|ROD1_uc004bfz.2_Intron	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	551					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						AAAGTCAGATTGTAGATTTTG	0.393		NA											68	76					0	0	0	0
GARNL3	84253	broad.mit.edu	37	9	130111290	130111290	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130111290G>T	uc011mae.1	+	17	1920	c.1519G>T	c.(1519-1521)GAT>TAT	p.D507Y	GARNL3_uc011mad.1_Missense_Mutation_p.D485Y	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	507	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGTTTCCACTGATGCTGGCGT	0.502		NA											22	71					1.55e-16	1.69e-16	1	0
NAIF1	203245	broad.mit.edu	37	9	130828916	130828916	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130828916G>A	uc004bta.2	-	1	684	c.465C>T	c.(463-465)CTC>CTT	p.L155L	NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	155					apoptosis|induction of apoptosis	nucleus					0						CCGAGGGTCCGAGGGCCACAG	0.652		NA											6	71					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348114	131348114	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:131348114G>A	uc004bvl.3	+	19	2761	c.2648G>A	c.(2647-2649)CGG>CAG	p.R883Q	SPTAN1_uc011mbg.1_Missense_Mutation_p.R883Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.R895Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.R883Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.R883Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	883	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TCCCAGCGTCGGCAGGACCTG	0.562		NA											27	83					0	0	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501394	134501394	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:134501394G>A	uc004cbc.2	-	10	1696	c.1566C>T	c.(1564-1566)GTC>GTT	p.V522V	RAPGEF1_uc004cbb.2_Silent_p.V540V|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.V527V|RAPGEF1_uc004cbd.2_Silent_p.V527V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	522					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542		NA											18	59					0	0	0	0
ARSD	414	broad.mit.edu	37	X	2838724	2838724	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:2838724G>A	uc004cqy.2	-	4	433	c.357C>T	c.(355-357)AAC>AAT	p.N119N	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.N119N|ARSD_uc004crb.3_Silent_p.N119N	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	119						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGAGCCTGCGTTCCACTGAA	0.527		NA											18	17					0	0	0	0
GPKOW	27238	broad.mit.edu	37	X	48979986	48979986	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:48979986C>G	uc004dmr.2	-	1	94	c.87G>C	c.(85-87)CGG>CGC	p.R29R		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus	nucleic acid binding			ovary(2)	2						CCAGCCGCCTCCGTGCGGACG	0.622		NA											6	6					0	0	0	0
PGK1	5230	broad.mit.edu	37	X	77365367	77365367	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:77365367C>G	uc004ecz.3	+	2	241	c.69C>G	c.(67-69)GTC>GTG	p.V23V	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_5'UTR	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	23					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						TTTTTAGAGTCGACTTCAATG	0.383		NA											29	47					0	0	0	0
DIAPH2	1730	broad.mit.edu	37	X	95993660	95993660	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:95993660C>G	uc004efu.3	+	3	637	c.241C>G	c.(241-243)CAA>GAA	p.Q81E	DIAPH2_uc004eft.3_Missense_Mutation_p.Q81E|DIAPH2_uc004efs.2_Missense_Mutation_p.Q81E	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	81					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TATTGATTCTCAAGTCGCGAT	0.323		NA											20	28					0	0	0	0
NUP62CL	54830	broad.mit.edu	37	X	106391016	106391016	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:106391016C>T	uc004ena.2	-	8	813	c.554G>A	c.(553-555)TGA>TAA	p.*185*	NUP62CL_uc004enb.2_RNA	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	185					protein transport	nuclear pore	structural constituent of nuclear pore				0						TATGGGCATTCAGAATTCTGC	0.358		NA											39	48					0	0	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685629	125685629	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:125685629G>A	uc004eul.2	-	1	1214	c.963C>T	c.(961-963)TAC>TAT	p.Y321Y		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321										skin(3)|ovary(1)	4						AGCCCACGGCGTACACAGACA	0.597		NA											14	29					0	0	0	0
OCRL	4952	broad.mit.edu	37	X	128710497	128710497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:128710497C>T	uc004euq.2	+	18	2248	c.2083C>T	c.(2083-2085)CGA>TGA	p.R695*	OCRL_uc004eur.2_Nonsense_Mutation_p.R695*	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	695					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						AAGACCAATCCGAGAAGTTCC	0.403		NA											12	22					0	0	0	0
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:12814274delT	uc001rar.3	-	2	1302	c.1109delA	c.(1108-1110)AACfs	p.N370fs	GPR19_uc001raq.2_Frame_Shift_Del_p.N370fs	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	370	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398		NA											8	203	---	---	---	---	NA	NA	NA	NA
TTN	7273	broad.mit.edu	37	2	179599162	179599166	+	Frame_Shift_Del	DEL	ACAAG	ACAAG	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179599162_179599166delACAAG	uc010zfg.1	-	49	11877_11881	c.11653_11657delCTTGT	c.(11653-11658)CTTGTGfs	p.L3885fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.L546fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4812_4813							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)			CTCCAGACACACAAGAGACTTCTGA	0.395		NA											33	234	---	---	---	---	NA	NA	NA	NA
LSS	4047	broad.mit.edu	37	21	47626622	47626623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:47626622_47626623insC	uc002zij.2	-	16	1606_1607	c.1527_1528insG	c.(1525-1530)GGGCACfs	p.G509fs	LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	509_510	PFTB 2.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599		NA											24	56	---	---	---	---	NA	NA	NA	NA
KIAA2018	205717	broad.mit.edu	37	3	113377167	113377168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:113377167_113377168insA	uc003eam.2	-	7	3772_3773	c.3361_3362insT	c.(3361-3363)TGTfs	p.C1121fs	KIAA2018_uc003eal.2_Frame_Shift_Ins_p.C1065fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1121					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ACAGCTGTCACATGTATTAGTT	0.455		NA											41	163	---	---	---	---	NA	NA	NA	NA
BTNL8	79908	broad.mit.edu	37	5	180375376	180375379	+	Splice_Site	DEL	GTAA	GTAA	-	rs10541574		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:180375376_180375379delGTAA	uc003mmp.2	+	5	1042	c.808_splice	c.e5+1	p.D270_splice	BTNL8_uc003mmq.2_Splice_Site_p.G313_splice|BTNL8_uc011dhg.1_Splice_Site_p.D145_splice|BTNL8_uc010jll.2_Intron|BTNL8_uc010jlm.2_Splice_Site_p.D154_splice|BTNL8_uc011dhh.1_Splice_Site_p.D86_splice	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor							integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGAACTGGGTAAGTATGTGTCA	0.554		NA											4	3	---	---	---	---	NA	NA	NA	NA