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
UBR4	23352	broad.mit.edu	37	1	19524242	19524242	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19524242C>T	uc001bbi.2	-	7	819	c.815G>A	c.(814-816)CGG>CAG	p.R272Q		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	272					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCTTGGAACCGATTGATATA	0.443		NA											47	22					0	0	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633547	19633547	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19633547T>C	uc001bbw.2	-	5	759	c.737A>G	c.(736-738)CAG>CGG	p.Q246R	AKR7A2_uc001bbx.2_Missense_Mutation_p.Q211R	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	246					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACAGGCTGTTTCCCGTC	0.622		NA											3	70					0	0	0	0
INADL	10207	broad.mit.edu	37	1	62234980	62234980	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:62234980T>C	uc001dab.2	+	5	524	c.410T>C	c.(409-411)ATA>ACA	p.I137T	INADL_uc009waf.1_Missense_Mutation_p.I137T|INADL_uc001daa.2_Missense_Mutation_p.I137T|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	137	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TATATAGATATAGAACGGCCT	0.428		NA											9	32					0	0	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403472	85403472	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:85403472C>T	uc001dkm.2	-	11	1542	c.1301G>A	c.(1300-1302)TGT>TAT	p.C434Y	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	434	Helical; (Potential).					integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCCAGCCACAGAATGTGTA	0.463		NA											16	7					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109801082	109801082	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:109801082C>T	uc001dxa.3	+	2	3400	c.3339C>T	c.(3337-3339)TGC>TGT	p.C1113C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1113	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGCCCAGTGCGCGCTGCGTG	0.622		NA											3	5					0	0	0	0
RBM15	64783	broad.mit.edu	37	1	110884036	110884036	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:110884036C>T	uc001dzl.1	+	1	2092	c.2009C>T	c.(2008-2010)TCT>TTT	p.S670F	RBM15_uc001dzm.1_Missense_Mutation_p.S670F|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	670	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCGCTCCTTCTCCTGACCGC	0.557		NA	T	MKL1	acute megakaryocytic leukemia								19	29					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152188022	152188022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:152188022C>G	uc001ezt.1	-	3	6159	c.6083G>C	c.(6082-6084)AGC>ACC	p.S2028T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2028	22				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCACAGCTCGATGACTG	0.562		NA											64	859					0	0	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223543	154223543	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:154223543G>A	uc001fep.3	+	13	1407	c.1240G>A	c.(1240-1242)GTG>ATG	p.V414M	UBAP2L_uc009wot.2_Missense_Mutation_p.V414M|UBAP2L_uc010pek.1_Missense_Mutation_p.V406M|UBAP2L_uc010pel.1_Missense_Mutation_p.V424M|UBAP2L_uc010pen.1_Missense_Mutation_p.V328M	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	414					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATTCAGCAGTGCACAGCCC	0.483		NA											32	54					0	0	0	0
IQGAP3	128239	broad.mit.edu	37	1	156510539	156510539	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:156510539G>T	uc001fpf.2	-	23	2775	c.2700C>A	c.(2698-2700)ATC>ATA	p.I900I		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	900					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCAATCTTGATGTCCATGA	0.562		NA											30	31					3.73e-12	6.19e-12	1	0
FCRL4	83417	broad.mit.edu	37	1	157559108	157559108	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157559108C>T	uc001fqw.2	-	3	329	c.193G>A	c.(193-195)GAA>AAA	p.E65K	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	65	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTCAACTTTTCTCCCCAGTAG	0.517		NA											8	53					0	0	0	0
CD5L	922	broad.mit.edu	37	1	157805833	157805833	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157805833C>A	uc001frk.3	-	3	311	c.168G>T	c.(166-168)AAG>AAT	p.K56N		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	56	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCACGTCCTTAATGTCCC	0.612		NA											6	167					0.00116845	0.0017736	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163765	161163765	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:161163765C>T	uc001fyt.3	-	5	1936	c.1508G>A	c.(1507-1509)GGT>GAT	p.G503D		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	503	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGCGACCACCCATGCAGGC	0.652		NA											20	21					0	0	0	0
RC3H1	149041	broad.mit.edu	37	1	173915954	173915954	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:173915954G>A	uc001gju.3	-	15	2845	c.2758C>T	c.(2758-2760)CAC>TAC	p.H920Y	RC3H1_uc010pms.1_Missense_Mutation_p.H920Y|RC3H1_uc001gjv.2_Missense_Mutation_p.H920Y|RC3H1_uc010pmt.1_Missense_Mutation_p.H920Y	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	920					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CAGCCACCGTGGGTTCCATAT	0.368		NA											16	35					0	0	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226792	204226792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:204226792G>A	uc001hau.2	-	9	1530	c.1213C>T	c.(1213-1215)CAG>TAG	p.Q405*	PLEKHA6_uc009xaw.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xax.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xay.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xaz.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xba.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xbb.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xbc.1_Nonsense_Mutation_p.Q29*	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	405										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTCGCAGCTGGTAGGCAGGG	0.652		NA											8	11					0	0	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779508	205779508	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:205779508G>A	uc001hdh.1	-	2	934	c.62C>T	c.(61-63)TCT>TTT	p.S21F		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	21						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGCAGGGAGAGGCAGAAGG	0.612		NA									OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	39					0	0	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128809	248128809	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:248128809T>C	uc010pzd.1	+	1	176	c.176T>C	c.(175-177)ATG>ACG	p.M59T	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	59	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATATCATGCTGATCCAC	0.448		NA											18	221					0	0	0	0
UPF2	26019	broad.mit.edu	37	10	12001352	12001352	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12001352G>T	uc001ila.2	-	11	2662	c.2188C>A	c.(2188-2190)CAA>AAA	p.Q730K	UPF2_uc001ilb.2_Missense_Mutation_p.Q730K|UPF2_uc001ilc.2_Missense_Mutation_p.Q730K|UPF2_uc009xiz.1_Missense_Mutation_p.Q730K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	730	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CTCATCATTTGCTCCTGAAAT	0.363		NA											9	27					3.1e-07	4.95e-07	1	0
DHTKD1	55526	broad.mit.edu	37	10	12126710	12126710	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12126710A>C	uc001ild.3	+	3	581	c.482A>C	c.(481-483)GAA>GCA	p.E161A		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	161					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACCACAGAAGAGCGAAAA	0.353		NA											45	92					0	0	0	0
RET	5979	broad.mit.edu	37	10	43604571	43604571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:43604571G>A	uc001jal.2	+	6	1346	c.1156G>A	c.(1156-1158)GCG>ACG	p.A386T	RET_uc001jak.1_Missense_Mutation_p.A386T|RET_uc010qez.1_Missense_Mutation_p.A132T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	386	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGGCCCAGGAGCGGGCGTCCT	0.632		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				20	23					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55849763	55849763	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:55849763C>A	uc001jju.1	-	16	2373	c.1978G>T	c.(1978-1980)GTT>TTT	p.V660F	PCDH15_uc010qhq.1_Missense_Mutation_p.V665F|PCDH15_uc010qhr.1_Missense_Mutation_p.V660F|PCDH15_uc010qhs.1_Missense_Mutation_p.V672F|PCDH15_uc010qht.1_Missense_Mutation_p.V667F|PCDH15_uc010qhu.1_Missense_Mutation_p.V660F|PCDH15_uc001jjv.1_Missense_Mutation_p.V638F|PCDH15_uc010qhv.1_Missense_Mutation_p.V660F|PCDH15_uc010qhw.1_Missense_Mutation_p.V623F|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.V665F|PCDH15_uc010qhz.1_Missense_Mutation_p.V660F|PCDH15_uc010qia.1_Missense_Mutation_p.V638F|PCDH15_uc010qib.1_Missense_Mutation_p.V638F|PCDH15_uc001jjw.2_Missense_Mutation_p.V660F	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	660	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)				AGATTAAAAACTCTCTGAGGA	0.338		NA								HNSCC(58;0.16)			29	94					8.89e-20	1.52e-19	1	0
FAM22D	728130	broad.mit.edu	37	10	89118157	89118157	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:89118157T>C	uc001kes.2	+	1	681	c.135T>C	c.(133-135)AGT>AGC	p.S45S	FAM22D_uc009xte.1_Silent_p.S45S	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	hypothetical protein LOC728130	45											0						CGGTAGTCAGTGCCCAGCCTG	0.512		NA											17	443					0	0	0	0
DRD4	1815	broad.mit.edu	37	11	639780	639780	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:639780G>A	uc001lqp.1	+	3	531	c.531G>A	c.(529-531)GTG>GTA	p.V177V		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	177	Extracellular (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TCAACGACGTGCGCGGCCGCG	0.726		NA											7	7					0	0	0	0
OR51E2	81285	broad.mit.edu	37	11	4703785	4703785	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:4703785T>C	uc001lzk.2	-	2	401	c.157A>G	c.(157-159)AGC>GGC	p.S53G		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(3)|ovary(2)	5		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCGTGCAGGCTGCGTTCCGTC	0.512		NA											3	77					0	0	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158579	48158579	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:48158579A>C	uc001ngp.3	+	10	2253	c.1898A>C	c.(1897-1899)GAT>GCT	p.D633A	PTPRJ_uc010rhr.1_Missense_Mutation_p.D78A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	633	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TCCAACATTGATGTAAGTACC	0.398		NA											12	87					0	0	0	0
MED17	9440	broad.mit.edu	37	11	93527025	93527025	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:93527025A>G	uc001pem.3	+	4	1044	c.769A>G	c.(769-771)ATC>GTC	p.I257V		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	257					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCTGCATATATCAAGGTATT	0.299		NA											14	407					0	0	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789522	117789522	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:117789522C>G	uc001prs.1	-	2	146	c.53G>C	c.(52-54)GGA>GCA	p.G18A	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.G18A	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	18	4 X 5 AA repeats of T-P-P-G-R.|2-1; approximate.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCTCCAGCTGAAGG	0.617		NA											13	24					0	0	0	0
ZNF384	171017	broad.mit.edu	37	12	6788350	6788350	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:6788350C>G	uc010sfh.1	-	4	275	c.67_splice	c.e4-1	p.I23_splice	ZNF384_uc001qpz.2_Splice_Site_p.I23_splice|ZNF384_uc001qqa.2_Splice_Site_p.I23_splice|ZNF384_uc001qqb.2_Splice_Site_p.I23_splice|ZNF384_uc001qqc.2_Splice_Site_p.I23_splice|ZNF384_uc001qqd.2_Splice_Site_p.I23_splice|ZNF384_uc001qqe.2_Splice_Site_p.I23_splice|ZNF384_uc009zew.1_5'Flank	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						TGTTCTCGATCTAAGAGAAAA	0.532		NA	T	EWSR1|TAF15 	ALL								26	47					0	0	0	0
ALG10B	144245	broad.mit.edu	37	12	38712166	38712166	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38712166C>T	uc001rln.3	+	2	414	c.275C>T	c.(274-276)TCC>TTC	p.S92F	ALG10B_uc001rlo.3_Missense_Mutation_p.S62F|ALG10B_uc010skk.1_Missense_Mutation_p.S32F	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	92	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTGTCTGCTCCATTGGGATG	0.418		NA											7	98					0	0	0	0
ALG10B	144245	broad.mit.edu	37	12	38714315	38714315	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714315C>G	uc001rln.3	+	3	861	c.722C>G	c.(721-723)TCC>TGC	p.S241C	ALG10B_uc001rlo.3_Missense_Mutation_p.S211C|ALG10B_uc010skk.1_Missense_Mutation_p.S181C	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	241	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGCTTATTCCATGTCCTTT	0.368		NA											9	114					0	0	0	0
ALG10B	144245	broad.mit.edu	37	12	38714762	38714762	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714762C>G	uc001rln.3	+	3	1308	c.1169C>G	c.(1168-1170)TCA>TGA	p.S390*	ALG10B_uc001rlo.3_Nonsense_Mutation_p.S360*|ALG10B_uc010skk.1_Nonsense_Mutation_p.S330*	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	390	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCATTGAAATCAAAGCCAATT	0.313		NA											6	59					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78513391	78513391	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:78513391C>A	uc001syp.2	+	15	3588	c.3415C>A	c.(3415-3417)CCC>ACC	p.P1139T	NAV3_uc001syo.2_Missense_Mutation_p.P1139T|NAV3_uc010sub.1_Missense_Mutation_p.P639T|NAV3_uc009zsf.2_Missense_Mutation_p.P147T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1139	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCGCAGCTTGCCCCGCCCTTC	0.512		NA								HNSCC(70;0.22)			23	51					3.01e-09	4.92e-09	1	0
NR2C1	7181	broad.mit.edu	37	12	95442958	95442958	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:95442958G>A	uc001tdm.3	-	9	1273	c.1017C>T	c.(1015-1017)TGC>TGT	p.C339C	NR2C1_uc010suu.1_Silent_p.C339C|NR2C1_uc001tdo.3_Silent_p.C339C|NR2C1_uc001tdn.3_Silent_p.C339C	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	339					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						CTGAGCTCTGGCAGGCTGTGC	0.468		NA											44	78					0	0	0	0
NEDD1	121441	broad.mit.edu	37	12	97337517	97337517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:97337517G>T	uc001teu.3	+	12	1813	c.1474G>T	c.(1474-1476)GAA>TAA	p.E492*	NEDD1_uc001tev.3_Nonsense_Mutation_p.E492*|NEDD1_uc010svc.1_Nonsense_Mutation_p.E403*|NEDD1_uc001tew.2_Nonsense_Mutation_p.E499*|NEDD1_uc001tex.2_Nonsense_Mutation_p.E403*	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	492					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						GGGAAAACAGGAATCTAAAGA	0.383		NA											12	22					7.04e-09	1.15e-08	1	0
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:125398267A>C	uc001ugs.3	-	2	499	c.51T>G	c.(49-51)GTT>GTG	p.V17V	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V17V|UBC_uc001ugt.2_Silent_p.V17V|UBC_uc001ugv.2_Silent_p.V17V|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	17	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473		NA											4	217					0	0	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939610	43939610	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:43939610G>C	uc001zsh.2	-	3	416	c.201C>G	c.(199-201)TTC>TTG	p.F67L	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsj.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsk.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsl.1_RNA	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	67	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTTATAGAGAAACGCACTA	0.443		NA											52	59					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54305533	54305533	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:54305533A>G	uc002ack.2	+	1	433	c.433A>G	c.(433-435)ACA>GCA	p.T145A		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	145					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACAATCAACACACACAAT	0.458		NA											4	87					0	0	0	0
PIGB	9488	broad.mit.edu	37	15	55626120	55626120	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:55626120A>C	uc002act.2	+	6	1025	c.709A>C	c.(709-711)ATT>CTT	p.I237L	PIGB_uc010ugg.1_Missense_Mutation_p.I42L	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	237	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		CACAGCTGTCATTCTGTGGAC	0.398		NA											7	43					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83349371	83349371	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83349371C>T	uc010uoh.1	-	8	1085	c.908G>A	c.(907-909)CGG>CAG	p.R303Q	AP3B2_uc010uoi.1_Missense_Mutation_p.R303Q|AP3B2_uc010uoj.1_Missense_Mutation_p.R271Q|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	303					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGCAGCAGCCGGTGGTCGGG	0.706		NA											4	29					0	0	0	0
TM6SF1	53346	broad.mit.edu	37	15	83796130	83796130	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83796130T>C	uc002bjp.2	+	9	931	c.822T>C	c.(820-822)TAT>TAC	p.Y274Y	TM6SF1_uc010bmq.2_Silent_p.Y243Y|TM6SF1_uc002bjq.2_Missense_Mutation_p.F168L|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Silent_p.Y126Y	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	274	Helical; (Potential).					integral to membrane				ovary(1)	1						ATATGTTCTATTCTGTTCCTT	0.408		NA											132	113					0	0	0	0
ZNF592	9640	broad.mit.edu	37	15	85333936	85333936	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:85333936A>G	uc002bld.2	+	5	2557	c.2221A>G	c.(2221-2223)ACC>GCC	p.T741A	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	741	C2H2-type 4.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTTCCTAGACCTGCCAGGT	0.552		NA											29	64					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20944608	20944608	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:20944608A>T	uc010vbe.1	-	62	12219	c.12219T>A	c.(12217-12219)AGT>AGA	p.S4073R	DNAH3_uc010vbd.1_Missense_Mutation_p.S1508R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCGGGCACTTGTTTTGT	0.512		NA											58	104					0	0	0	0
GGA2	23062	broad.mit.edu	37	16	23480233	23480233	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:23480233T>C	uc002dlq.2	-	16	1781	c.1705A>G	c.(1705-1707)ATG>GTG	p.M569V		NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	569	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		AGCAGCAGCATCTGAGATATC	0.512		NA											29	39					0	0	0	0
KIF22	3835	broad.mit.edu	37	16	29814096	29814096	+	Silent	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29814096A>G	uc002dts.3	+	9	1311	c.1287A>G	c.(1285-1287)CTA>CTG	p.L429L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.L361L|KIF22_uc010vdw.1_Silent_p.L361L|KIF22_uc010bzf.2_Silent_p.L361L|KIF22_uc002dtt.1_5'Flank|KIF22_uc002frc.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	429				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						TCAGCCCCCTACAGAAGCTAA	0.592		NA											3	93					0	0	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913176	29913176	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29913176T>C	uc002dut.2	+	1	1030	c.884T>C	c.(883-885)CTC>CCC	p.L295P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	295	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0						TTTTCCGTTCTCCTGCCTGGG	0.657		NA											14	16					0	0	0	0
ZNF646	9726	broad.mit.edu	37	16	31089215	31089215	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:31089215A>T	uc002eap.2	+	2	1859	c.1570A>T	c.(1570-1572)ATC>TTC	p.I524F		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						AAGTGCAGACATCGGGGCTGA	0.622		NA											10	16					0	0	0	0
SNX20	124460	broad.mit.edu	37	16	50707787	50707787	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:50707787G>A	uc002egk.2	-	4	654	c.481C>T	c.(481-483)CTG>TTG	p.L161L	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	161	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						TACTCCTGCAGGGCGCGCCGA	0.647		NA											5	25					0	0	0	0
CTCF	10664	broad.mit.edu	37	16	67670700	67670700	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67670700A>T	uc002etl.2	+	11	2235	c.1945A>T	c.(1945-1947)AAG>TAG	p.K649*	CTCF_uc010cek.2_Nonsense_Mutation_p.K321*|CTCF_uc002etm.1_Nonsense_Mutation_p.K138*	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	649					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCACCCGCCAAGAAGCGGAG	0.587		NA											79	135					0	0	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861219	67861219	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67861219G>A	uc002euj.2	+	14	1964	c.1570G>A	c.(1570-1572)GGC>AGC	p.G524S	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.G401S|TSNAXIP1_uc002euf.3_Missense_Mutation_p.G257S|TSNAXIP1_uc010vka.1_Missense_Mutation_p.G578S|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.G509S|TSNAXIP1_uc002eug.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002euh.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002eui.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002euk.2_Missense_Mutation_p.G257S	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	524					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAGGCAGGGGGCTGGCATCC	0.597		NA											32	36					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579386	7579386	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:7579386T>A	uc002gim.2	-	4	495	c.301A>T	c.(301-303)AAA>TAA	p.K101*	TP53_uc002gig.1_Nonsense_Mutation_p.K101*|TP53_uc002gih.2_Nonsense_Mutation_p.K101*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.K101*|TP53_uc010cni.1_Nonsense_Mutation_p.K101*|TP53_uc002gij.2_Nonsense_Mutation_p.K101*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.K62*|TP53_uc010cnk.1_Nonsense_Mutation_p.K116*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	101	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		K -> R (in sporadic cancers; somatic mutation).|K -> N (in a sporadic cancer; 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.0?(7)|p.K101R(3)|p.G59fs*23(3)|p.T102fs*21(2)|p.V73fs*9(1)|p.K101fs*48(1)|p.K101N(1)|p.W91fs*13(1)|p.K101*(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGGTAGGTTTTCTGGGAAGGG	0.642		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)			33	8					0	0	0	0
SEZ6	124925	broad.mit.edu	37	17	27308731	27308731	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:27308731C>T	uc002hdp.2	-	2	576	c.382G>A	c.(382-384)GCG>ACG	p.A128T	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.A128T|SEZ6_uc002hdq.1_Missense_Mutation_p.A3T|SEZ6_uc010crz.1_Missense_Mutation_p.A128T	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	128	Pro-rich.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGGTACCGCAGCCATGGCT	0.652		NA											13	21					0	0	0	0
RFFL	117584	broad.mit.edu	37	17	33343508	33343508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:33343508C>T	uc002hin.1	-	5	940	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	RFFL_uc002hiq.2_Missense_Mutation_p.R173Q|RFFL_uc002him.1_Missense_Mutation_p.R256Q|RFFL_uc010cti.1_Missense_Mutation_p.R262Q|RFFL_uc002hip.1_Missense_Mutation_p.R228Q|RFFL_uc002hio.1_Missense_Mutation_p.R256Q	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	rififylin	256	SAP 2.				apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCAGCTGCCGCACTGTCAG	0.537		NA											10	163					0	0	0	0
KRT26	353288	broad.mit.edu	37	17	38926053	38926053	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:38926053G>A	uc002hvf.2	-	5	968	c.922C>T	c.(922-924)CGC>TGC	p.R308C		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	308	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TGCAGATTGCGTTTTAATTCG	0.438		NA											45	20					0	0	0	0
H3F3B	3021	broad.mit.edu	37	17	73775146	73775146	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:73775146T>A	uc002jpl.2	-	2	243	c.110A>T	c.(109-111)AAG>ATG	p.K37M		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			ovary(1)	1	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGAGGCTTCTTCACCCCGCC	0.662		NA									OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	19					0	0	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204170	10204170	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:10204170G>A	uc002mmx.1	-	5	1195	c.1077C>T	c.(1075-1077)GCC>GCT	p.A359A	ANGPTL6_uc002mmy.1_Silent_p.A359A	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	359	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CATCATAGTGGGCACGTGCTC	0.612		NA											15	31					0	0	0	0
CCDC105	126402	broad.mit.edu	37	19	15132682	15132682	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:15132682A>G	uc002nae.2	+	6	1301	c.1202A>G	c.(1201-1203)TAC>TGC	p.Y401C		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	401					microtubule cytoskeleton organization	microtubule				ovary(1)	1						GTTCGCATGTACCAGAGACAC	0.632		NA											15	34					0	0	0	0
C19orf50	79036	broad.mit.edu	37	19	18675832	18675832	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:18675832G>A	uc002njo.2	+	3	396	c.254_splice	c.e3+1	p.R85_splice	C19orf50_uc002njp.2_Splice_Site|C19orf50_uc002njq.2_Splice_Site_p.R85_splice	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN	hypothetical protein LOC79036								protein binding				0						GCCGTATCAGGTGGGTGCTCA	0.587		NA											32	44					0	0	0	0
NUDT19	390916	broad.mit.edu	37	19	33200149	33200149	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:33200149C>G	uc010edf.2	+	2	773	c.773C>G	c.(772-774)CCC>CGC	p.P258R		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	258	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					TGGTTGCCACCCCCACAGTTC	0.433		NA											29	229					0	0	0	0
GRLF1	2909	broad.mit.edu	37	19	47492882	47492882	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:47492882C>T	uc010ekv.2	+	4	3986	c.3986C>T	c.(3985-3987)CCT>CTT	p.P1329L		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1329	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		TCAGAACTGCCTGACCCCCTG	0.542		NA											52	86					0	0	0	0
DKKL1	27120	broad.mit.edu	37	19	49867878	49867878	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:49867878T>C	uc002pnk.2	+	2	264	c.50T>C	c.(49-51)CTG>CCG	p.L17P	TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	17					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTGCTGGTCCTGCTGCTGCTC	0.677		NA											3	55					0	0	0	0
PRKD3	23683	broad.mit.edu	37	2	37501741	37501741	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:37501741T>A	uc002rqd.2	-	10	2029	c.1474A>T	c.(1474-1476)ACT>TCT	p.T492S	PRKD3_uc002rqe.1_Missense_Mutation_p.T92S|PRKD3_uc002rqf.1_Missense_Mutation_p.T492S	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	492	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TATACCATAGTATCAGTAATG	0.423		NA											26	28					0	0	0	0
ZNF638	27332	broad.mit.edu	37	2	71629115	71629115	+	Silent	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71629115C>G	uc002shx.2	+	16	3046	c.2727C>G	c.(2725-2727)GTC>GTG	p.V909V	ZNF638_uc010yqw.1_Silent_p.V488V|ZNF638_uc002shy.2_Silent_p.V909V|ZNF638_uc002shz.2_Silent_p.V909V|ZNF638_uc002sia.2_Silent_p.V909V|ZNF638_uc002sib.1_Silent_p.V909V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.V6V	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	909	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TGATGCTTGTCTCTAATTTGC	0.269		NA											18	34					0	0	0	0
DYSF	8291	broad.mit.edu	37	2	71901427	71901427	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71901427G>A	uc002sie.2	+	51	6143	c.5767_splice	c.e51+1	p.G1923_splice	DYSF_uc010feg.2_Splice_Site_p.G1954_splice|DYSF_uc010feh.2_Splice_Site_p.G1930_splice|DYSF_uc002sig.3_Splice_Site_p.G1909_splice|DYSF_uc010yqx.1_Splice_Site|DYSF_uc010fee.2_Splice_Site_p.G1944_splice|DYSF_uc010fef.2_Splice_Site_p.G1961_splice|DYSF_uc010fei.2_Splice_Site_p.G1940_splice|DYSF_uc010fek.2_Splice_Site_p.G1941_splice|DYSF_uc010fej.2_Splice_Site_p.G1931_splice|DYSF_uc010fel.2_Splice_Site_p.G1910_splice|DYSF_uc010feo.2_Splice_Site_p.G1955_splice|DYSF_uc010fem.2_Splice_Site_p.G1945_splice|DYSF_uc010fen.2_Splice_Site_p.G1962_splice|DYSF_uc002sif.2_Splice_Site_p.G1924_splice|DYSF_uc010yqy.1_Splice_Site_p.G804_splice|DYSF_uc010yqz.1_Splice_Site_p.G684_splice	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GATTTTCTGGGTAAGCGCTAT	0.522		NA											15	28					0	0	0	0
TUBA3E	112714	broad.mit.edu	37	2	130949610	130949610	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:130949610C>T	uc002tqv.2	-	5	1248	c.1147G>A	c.(1147-1149)GCC>ACC	p.A383T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	383					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TCCGCAATGGCCGTGGTGTTG	0.632		NA											48	84					0	0	0	0
RIF1	55183	broad.mit.edu	37	2	152266962	152266962	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:152266962C>T	uc002txm.2	+	2	155	c.25C>T	c.(25-27)CTC>TTC	p.L9F	RIF1_uc002txl.2_Missense_Mutation_p.L9F|RIF1_uc010fnv.1_Intron|RIF1_uc002txn.2_Missense_Mutation_p.L9F|RIF1_uc002txo.2_Missense_Mutation_p.L9F|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	9					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAGCCCCCTCGCGCCGCT	0.652		NA									OREG0015013	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	53					0	0	0	0
TTC21B	79809	broad.mit.edu	37	2	166764213	166764213	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:166764213C>T	uc002udk.2	-	19	2676	c.2543G>A	c.(2542-2544)GGT>GAT	p.G848D		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	848	TPR 12.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GATCGCATCACCAAGTTTTTC	0.393		NA											17	19					0	0	0	0
HECW2	57520	broad.mit.edu	37	2	197081812	197081812	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:197081812G>A	uc002utm.1	-	27	4597	c.4414C>T	c.(4414-4416)CAT>TAT	p.H1472Y	HECW2_uc002utl.1_Missense_Mutation_p.H1116Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1472	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TGATTGTCATGGTATCCTATC	0.388		NA											11	100					0	0	0	0
C2orf62	375307	broad.mit.edu	37	2	219221907	219221907	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219221907C>T	uc002vhr.2	+	2	144	c.115C>T	c.(115-117)CTC>TTC	p.L39F	C2orf62_uc002vhs.2_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	39											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCAGCTCCCTCCGTGAGCT	0.547		NA											23	38					0	0	0	0
BCS1L	617	broad.mit.edu	37	2	219526164	219526164	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219526164G>A	uc002vio.2	+	3	774	c.356G>A	c.(355-357)CGA>CAA	p.R119Q	ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Missense_Mutation_p.R119Q|BCS1L_uc002viq.2_Missense_Mutation_p.R119Q|BCS1L_uc010fvu.2_Missense_Mutation_p.R119Q|BCS1L_uc010fvv.2_Missense_Mutation_p.R119Q|BCS1L_uc002vir.2_Missense_Mutation_p.R119Q|BCS1L_uc002vis.2_Missense_Mutation_p.R119Q	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	119	Mitochondrial matrix (Potential).				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACGAAGTCGAGAGATGCAG	0.493		NA											76	56					0	0	0	0
STK36	27148	broad.mit.edu	37	2	219543897	219543897	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219543897C>T	uc002viu.2	+	7	957	c.691C>T	c.(691-693)CTG>TTG	p.L231L	STK36_uc002viv.2_Silent_p.L231L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	231	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTAGAACTTCCTGCAGGGACT	0.478		NA											39	85					0	0	0	0
CHRND	1144	broad.mit.edu	37	2	233399048	233399048	+	Missense_Mutation	SNP	A	A	C	rs144433265		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:233399048A>C	uc002vsw.2	+	11	1371	c.1367A>C	c.(1366-1368)AAT>ACT	p.N456T	CHRND_uc010zmg.1_Missense_Mutation_p.N441T|CHRND_uc010fyc.2_Missense_Mutation_p.N329T|CHRND_uc010zmh.1_Missense_Mutation_p.N262T	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	456	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AACAATTACAATGAGGTAAGG	0.488		NA											7	98					0	0	0	0
USP40	55230	broad.mit.edu	37	2	234460155	234460155	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:234460155A>C	uc010zmu.1	-	7	822	c.704T>G	c.(703-705)TTA>TGA	p.L235*	USP40_uc010zmr.1_Nonsense_Mutation_p.L247*|USP40_uc010zmt.1_5'Flank			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	235					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTACGTAATTTGGCCGA	0.308		NA											11	9					0	0	0	0
TBC1D20	128637	broad.mit.edu	37	20	428589	428589	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:428589C>T	uc002wds.2	-	2	338	c.200G>A	c.(199-201)CGA>CAA	p.R67Q	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	67	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CCACACTTTTCGTCTGATCTC	0.537		NA											8	60					0	0	0	0
PAX1	5075	broad.mit.edu	37	20	21695341	21695341	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:21695341C>T	uc002wsj.2	+	5	1559	c.1505C>T	c.(1504-1506)GCA>GTA	p.A502V	PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	502					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGCGGGGTGCACGCCCAGCC	0.687		NA											13	24					0	0	0	0
RALGAPB	57148	broad.mit.edu	37	20	37199442	37199442	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:37199442A>T	uc002xiw.2	+	28	4351	c.4094A>T	c.(4093-4095)GAG>GTG	p.E1365V	RALGAPB_uc002xix.2_Missense_Mutation_p.E1362V|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E1144V	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1365	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTGATGACAGAGATCAGTACT	0.358		NA											22	29					0	0	0	0
GRIK1	2897	broad.mit.edu	37	21	30934039	30934039	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:30934039G>T	uc002yno.1	-	15	2726	c.2262C>A	c.(2260-2262)TCC>TCA	p.S754S	GRIK1_uc002ynn.2_Silent_p.S739S|GRIK1_uc011acs.1_Silent_p.S754S|GRIK1_uc011act.1_Silent_p.S615S	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	754	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAATGCTGGTGGACTCCATCA	0.542		NA											19	36					2.39e-15	4.02e-15	1	0
HUNK	30811	broad.mit.edu	37	21	33296871	33296871	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33296871T>C	uc002yph.2	+	2	713	c.353T>C	c.(352-354)ATC>ACC	p.I118T		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	118	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGCAGATGATCCGCCACCCC	0.493		NA											21	23					0	0	0	0
TCP10L	140290	broad.mit.edu	37	21	33951084	33951084	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33951084G>A	uc002ypw.3	-	4	534	c.418C>T	c.(418-420)CCC>TCC	p.P140S		NM_144659	NP_653260	Q9NV44	CU077_HUMAN	T-complex 10A-2	Error:Variant_position_missing_in_Q9NV44_after_alignment											0						GCGTATTTGGGTATTGTCTCT	0.433		NA											56	64					0	0	0	0
MORC3	23515	broad.mit.edu	37	21	37736544	37736544	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:37736544C>G	uc002yvi.2	+	14	1682	c.1606C>G	c.(1606-1608)CCT>GCT	p.P536A		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	536					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TCAGTCTGAACCTGAGAGCAA	0.398		NA											12	28					0	0	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209568	19209568	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr22:19209568C>G	uc002zpb.2	-	16	2542	c.2467G>C	c.(2467-2469)GAT>CAT	p.D823H	CLTCL1_uc011agv.1_Missense_Mutation_p.D823H|CLTCL1_uc011agw.1_Missense_Mutation_p.D823H	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	823	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TCAGAACAATCCACATCAAGC	0.443		NA	T	?	ALCL								43	84					0	0	0	0
CAMK1	8536	broad.mit.edu	37	3	9807481	9807481	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:9807481C>T	uc003bst.2	-	3	355	c.177G>A	c.(175-177)AAG>AAA	p.K59K	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	59	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TGCTGCCTTCCTTGCCCTCCA	0.527		NA											29	6					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49151435	49151435	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49151435C>T	uc003cwd.1	-	16	2347	c.2186G>A	c.(2185-2187)CGT>CAT	p.R729H	USP19_uc003cwa.2_Missense_Mutation_p.R537H|USP19_uc003cvz.3_Missense_Mutation_p.R832H|USP19_uc011bcg.1_Missense_Mutation_p.R820H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R487H|USP19_uc011bch.1_Missense_Mutation_p.R830H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	729	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCGCCAAACGCAGGTTCTC	0.512		NA											7	21					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49154907	49154907	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49154907G>T	uc003cwd.1	-	5	730	c.569C>A	c.(568-570)CCC>CAC	p.P190H	USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.P190H|USP19_uc011bcg.1_Missense_Mutation_p.P190H|USP19_uc003cwb.2_Missense_Mutation_p.P175H|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.P190H|USP19_uc011bci.1_Missense_Mutation_p.P175H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	190	Cytoplasmic (Potential).|CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTTTTTGGGCAGTGTCAG	0.552		NA											31	10					1.75e-13	2.94e-13	1	0
PLA1A	51365	broad.mit.edu	37	3	119331938	119331938	+	Missense_Mutation	SNP	G	G	A	rs140761557		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:119331938G>A	uc003ecu.2	+	5	676	c.637G>A	c.(637-639)GTG>ATG	p.V213M	PLA1A_uc003ecv.2_Missense_Mutation_p.V197M|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.V40M	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	213				V -> T (in Ref. 4; BAD96425).	lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TGCCCTCTTCGTGGAAGCCAT	0.572		NA											11	11					0	0	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410533	121410533	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:121410533G>T	uc003eei.3	-	14	7789	c.7663C>A	c.(7663-7665)CTT>ATT	p.L2555I	GOLGB1_uc010hrc.2_Missense_Mutation_p.L2560I|GOLGB1_uc003eej.3_Missense_Mutation_p.L2521I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2555	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGAACTTCAAGAAGCTGCTTT	0.388		NA											88	66					3.14e-36	5.42e-36	1	0
DNAJC13	23317	broad.mit.edu	37	3	132185174	132185174	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:132185174C>G	uc003eor.2	+	19	2065	c.2000C>G	c.(1999-2001)TCA>TGA	p.S667*	DNAJC13_uc010htq.1_Nonsense_Mutation_p.S667*	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	667							heat shock protein binding			ovary(1)|breast(1)	2						TTGGAAAGCTCAGATCTCGTA	0.378		NA											21	57					0	0	0	0
C4orf50	389197	broad.mit.edu	37	4	5961272	5961272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:5961272G>A	uc003git.1	-	7	751	c.661C>T	c.(661-663)CGT>TGT	p.R221C		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	221										pancreas(2)|breast(1)	3						TCTTGCAGACGTTGTGCGGGG	0.587		NA											21	32					0	0	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676210	25676210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:25676210G>A	uc003grr.2	+	12	1498	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T	SLC34A2_uc003grs.2_Missense_Mutation_p.A472T|SLC34A2_uc010iev.2_Missense_Mutation_p.A472T	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	473	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CATCCTGGCCGCCTTAGCCAG	0.607		NA											49	60					0	0	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994497	72994497	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:72994497T>G	uc003hgg.2	+	2	593	c.495T>G	c.(493-495)AAT>AAG	p.N165K	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.N66K|NPFFR2_uc003hgh.2_Missense_Mutation_p.N63K	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	165	Helical; Name=1; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGATGGGAAATACTGTGGTTT	0.358		NA											40	51					0	0	0	0
PRMT10	90826	broad.mit.edu	37	4	148559781	148559781	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:148559781C>T	uc003ilc.2	-	12	2582	c.2440G>A	c.(2440-2442)GTT>ATT	p.V814I	PRMT10_uc003ilb.2_Missense_Mutation_p.V458I|PRMT10_uc003ild.2_Missense_Mutation_p.V701I	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	814						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						TCTAAAACAACTGCAGCTTGT	0.413		NA											20	20					0	0	0	0
KLHL2	11275	broad.mit.edu	37	4	166238995	166238995	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:166238995G>T	uc003irb.2	+	14	1886	c.1627G>T	c.(1627-1629)GGT>TGT	p.G543C	KLHL2_uc011cjm.1_Missense_Mutation_p.G547C|KLHL2_uc003irc.2_Missense_Mutation_p.G455C|KLHL2_uc010ira.2_Missense_Mutation_p.G196C	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	543	Kelch 5.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGCAGTTAATGGTCTGTTATA	0.348		NA											26	12					5.62e-17	9.52e-17	1	0
IRX4	50805	broad.mit.edu	37	5	1879828	1879828	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:1879828T>C	uc003jcz.2	-	4	645	c.526A>G	c.(526-528)ATC>GTC	p.I176V	IRX4_uc011cmf.1_Missense_Mutation_p.I37V	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	176	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		GCCAGCATGATCTTCTCGCCC	0.642		NA											35	53					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13830247	13830247	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:13830247G>C	uc003jfd.2	-	37	6179	c.6137C>G	c.(6136-6138)GCC>GGC	p.A2046G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2046	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AATTTGCTGGGCTGCAACCGA	0.383		NA							Kartagener_syndrome				20	20					0	0	0	0
IL7R	3575	broad.mit.edu	37	5	35876219	35876219	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:35876219G>T	uc003jjs.2	+	8	1100	c.1011G>T	c.(1009-1011)AAG>AAT	p.K337N	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	337	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AATCTGAGAAGCAGAGGCTTG	0.488		NA											15	38					4.15e-12	6.86e-12	1	0
ELL2	22936	broad.mit.edu	37	5	95242283	95242283	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:95242283G>T	uc003klr.3	-	5	1035	c.685C>A	c.(685-687)CAG>AAG	p.Q229K		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	229					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCATCTTTCTGGAGTCTAGCA	0.502		NA											14	122					4.38e-07	6.97e-07	1	0
FBN2	2201	broad.mit.edu	37	5	127670501	127670501	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:127670501T>A	uc003kuu.2	-	31	4448	c.4009A>T	c.(4009-4011)ATG>TTG	p.M1337L	FBN2_uc003kuv.2_Missense_Mutation_p.M1304L	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1337	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCCCAAACATGCAGATATTT	0.378		NA											27	37					0	0	0	0
PRELID1	27166	broad.mit.edu	37	5	176732933	176732933	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:176732933G>T	uc003mfx.2	+	3	532	c.380G>T	c.(379-381)CGC>CTC	p.R127L	RAB24_uc003mfu.2_5'Flank|RAB24_uc003mfv.2_5'Flank|RAB24_uc003mfw.2_5'Flank|PRELID1_uc003mfy.2_Missense_Mutation_p.R127L|MXD3_uc010jkk.2_3'UTR	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	PRELI domain containing 1 precursor	127	PRELI/MSF1.			R -> H (in Ref. 1; AAF09255).	immune response|multicellular organismal development	mitochondrion|nucleus					0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGAAATCCGCCGGGAAGCC	0.547		NA											24	36					3.67e-16	6.2e-16	1	0
TDRD6	221400	broad.mit.edu	37	6	46656253	46656253	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:46656253G>A	uc003oyj.2	+	1	388	c.388G>A	c.(388-390)GTG>ATG	p.V130M	TDRD6_uc010jze.2_Missense_Mutation_p.V124M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	130					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GCTGGGCTGCGTGCTAGCGGG	0.706		NA											5	6					0	0	0	0
SFRS18	25957	broad.mit.edu	37	6	99848618	99848618	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:99848618T>A	uc003ppo.3	-	12	2444	c.2216A>T	c.(2215-2217)GAT>GTT	p.D739V	SFRS18_uc003ppl.2_Missense_Mutation_p.D285V|SFRS18_uc003ppp.3_Missense_Mutation_p.D739V|SFRS18_uc011eag.1_Missense_Mutation_p.D739V	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	739	Ser-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTTCTTACTATCCTGTCTAGA	0.353		NA											44	80					0	0	0	0
C6orf170	221322	broad.mit.edu	37	6	121615732	121615732	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:121615732T>C	uc003pyo.1	-	11	1283	c.1215A>G	c.(1213-1215)GGA>GGG	p.G405G	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_5'Flank	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	405					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		GCTTTGAATGTCCCAAAGTTT	0.279		NA											58	74					0	0	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151293090	151293090	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:151293090C>A	uc003qob.2	+	20	2289	c.2021C>A	c.(2020-2022)CCT>CAT	p.P674H	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P675H|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P622H	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	674	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TAGGGGACACCTGTGTTCGTG	0.443		NA											17	76					1.5e-11	2.47e-11	1	0
TMEM195	392636	broad.mit.edu	37	7	15584411	15584411	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:15584411T>G	uc003stb.1	-	3	565	c.395A>C	c.(394-396)CAT>CCT	p.H132P		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	132	Histidine box-1.			H->A: Loss of function; when associated with A-136; A-145; A-148; A-149; A-221; A-224 and A-225.	ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						AGCCATACGATGGAACCAGTA	0.318		NA											6	100					0	0	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067176	18067176	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:18067176C>A	uc003stz.2	-	1	311	c.230G>T	c.(229-231)TGC>TTC	p.C77F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	77					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGCAATCTTGCAGGCATTAAT	0.483		NA											110	164					5.77e-36	9.93e-36	1	0
POU6F2	11281	broad.mit.edu	37	7	39472771	39472771	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:39472771G>A	uc003thb.1	+	7	1164	c.1122G>A	c.(1120-1122)CAG>CAA	p.Q374Q		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	374	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						TCACCCCCCAGCTCCTCACAA	0.587		NA											5	59					0	0	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578580	44578580	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:44578580G>A	uc003tlb.2	-	2	1472	c.1416C>T	c.(1414-1416)TAC>TAT	p.Y472Y	NPC1L1_uc003tlc.2_Silent_p.Y472Y|NPC1L1_uc011kbw.1_Silent_p.Y472Y|NPC1L1_uc003tld.2_Silent_p.Y472Y	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	472	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGAGGGGGGCGTAGCAGATGT	0.592		NA											12	26					0	0	0	0
ELN	2006	broad.mit.edu	37	7	73480043	73480043	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:73480043C>T	uc003tzw.2	+	30	2122	c.2031C>T	c.(2029-2031)GCC>GCT	p.A677A	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.A671A|ELN_uc003tzz.2_Silent_p.A590A|ELN_uc003tzo.2_Silent_p.A623A|ELN_uc003tzp.2_Silent_p.A582A|ELN_uc003tzq.2_Silent_p.A535A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A652A|ELN_uc003tzt.2_Silent_p.A676A|ELN_uc003tzu.2_Silent_p.A657A|ELN_uc003tzv.2_Silent_p.A642A|ELN_uc003tzx.2_Silent_p.A661A|ELN_uc011kff.1_Silent_p.A671A|ELN_uc003tzy.2_Silent_p.A647A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	733	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGCTGCAGCCGCTAAAGCAG	0.547		NA	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						15	24					0	0	0	0
MAGI2	9863	broad.mit.edu	37	7	77885383	77885383	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:77885383C>T	uc003ugx.2	-	10	2178	c.1924G>A	c.(1924-1926)GAA>AAA	p.E642K	MAGI2_uc003ugy.2_Missense_Mutation_p.E642K|MAGI2_uc010ldx.1_Missense_Mutation_p.E251K|MAGI2_uc010ldy.1_Missense_Mutation_p.E251K|MAGI2_uc011kgr.1_Missense_Mutation_p.E474K|MAGI2_uc011kgs.1_Missense_Mutation_p.E479K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	642	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTCGCCTTCACACAGGCCA	0.493		NA											10	12					0	0	0	0
PDK4	5166	broad.mit.edu	37	7	95224465	95224465	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:95224465C>A	uc003uoa.2	-	2	462	c.142G>T	c.(142-144)GCA>TCA	p.A48S	PDK4_uc003unz.2_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	48					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTCACATGCATTTTCTGAA	0.318		NA											10	25					0.000442599	0.000678458	1	0
RELN	5649	broad.mit.edu	37	7	103179606	103179606	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:103179606T>C	uc003vca.2	-	45	7259	c.7099A>G	c.(7099-7101)AGC>GGC	p.S2367G	RELN_uc010liz.2_Missense_Mutation_p.S2367G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2367					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACGTCTGTGCTGACCACGTAA	0.542		NA											3	45					0	0	0	0
NRCAM	4897	broad.mit.edu	37	7	107880402	107880402	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:107880402C>T	uc003vfb.2	-	4	577	c.106_splice	c.e4+1	p.P36_splice	NRCAM_uc003vfc.2_Splice_Site_p.L36_splice|NRCAM_uc011kmk.1_Splice_Site_p.P31_splice|NRCAM_uc003vfd.2_Splice_Site_p.P31_splice|NRCAM_uc003vfe.2_Splice_Site_p.P31_splice	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TTAATACTTACGATCAAGAGG	0.453		NA											28	42					0	0	0	0
LGI3	203190	broad.mit.edu	37	8	22009005	22009005	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:22009005G>T	uc003xav.2	-	7	1115	c.826C>A	c.(826-828)CCA>ACA	p.P276T	LGI3_uc010ltu.2_Missense_Mutation_p.P252T	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	276	EAR 2.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CAGGTACCTGGGATTCTATCA	0.522		NA											5	96					2.01e-06	3.17e-06	1	0
TRIM55	84675	broad.mit.edu	37	8	67039641	67039641	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:67039641G>T	uc003xvv.2	+	1	364	c.138G>T	c.(136-138)CTG>CTT	p.L46L	TRIM55_uc003xvu.2_Silent_p.L46L|TRIM55_uc003xvw.2_Silent_p.L46L|TRIM55_uc003xvx.2_Silent_p.L46L	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	46	RING-type.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCACAACCTGTGTAGGAAAT	0.463		NA											5	206					2.77e-08	4.48e-08	1	0
CSMD3	114788	broad.mit.edu	37	8	113304927	113304927	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:113304927C>T	uc003ynu.2	-	55	8786	c.8627G>A	c.(8626-8628)GGT>GAT	p.G2876D	CSMD3_uc003yns.2_Missense_Mutation_p.G2078D|CSMD3_uc003ynt.2_Missense_Mutation_p.G2836D|CSMD3_uc011lhx.1_Missense_Mutation_p.G2707D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2876	Extracellular (Potential).|Sushi 19.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACCAGGGTGACCACAGCTAAC	0.363		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	74					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32631631	32631631	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:32631631T>A	uc003zrg.1	-	1	4037	c.3947A>T	c.(3946-3948)GAA>GTA	p.E1316V	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1316					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCTGCTCTTCTGTCATGGC	0.428		NA											119	39					0	0	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673155	125673155	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:125673155C>G	uc004bnh.2	-	2	1286	c.1197G>C	c.(1195-1197)AAG>AAC	p.K399N		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	399	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTTAAGTGCTTTTTGAGAG	0.413		NA											4	37					0	0	0	0
C9orf7	11094	broad.mit.edu	37	9	136333048	136333048	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:136333048C>T	uc011mdg.1	+	4	428	c.326C>T	c.(325-327)GCG>GTG	p.A109V	C9orf7_uc004cec.2_Missense_Mutation_p.A67V|C9orf7_uc011mdh.1_Missense_Mutation_p.A109V|C9orf7_uc011mdi.1_Missense_Mutation_p.A67V|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	109	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)		CCCAGGATGGCGGTCGTTCCC	0.637		NA											36	5					0	0	0	0
NR0B1	190	broad.mit.edu	37	X	30326947	30326947	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:30326947C>T	uc004dcf.3	-	1	549	c.534G>A	c.(532-534)GCG>GCA	p.A178A		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	178	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTGGCCTCTGCGCGAAGTAGG	0.677		NA									OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	9					0	0	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591210	56591210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:56591210G>A	uc004dus.2	+	1	1139	c.904G>A	c.(904-906)GGG>AGG	p.G302R	UBQLN2_uc011moq.1_Missense_Mutation_p.G302R	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	302						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						TTCCTCCTCTGGGGAAGGTAC	0.567		NA											22	25					0	0	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912582	101912582	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:101912582T>C	uc004ejj.3	+	5	4542	c.3741T>C	c.(3739-3741)TAT>TAC	p.Y1247Y	GPRASP1_uc004eji.3_Silent_p.Y1247Y|GPRASP1_uc010nod.2_Silent_p.Y1247Y	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1247	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CCCTTGCTTATAGCGTGGATT	0.408		NA											27	61					0	0	0	0
MST4	51765	broad.mit.edu	37	X	131197495	131197495	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:131197495G>A	uc004ewk.1	+	4	609	c.308G>A	c.(307-309)GGC>GAC	p.G103D	MST4_uc004ewl.1_Missense_Mutation_p.G26D|MST4_uc011mux.1_Missense_Mutation_p.G125D|MST4_uc010nrj.1_Missense_Mutation_p.G103D|MST4_uc004ewm.1_Missense_Mutation_p.G103D	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	103	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GAATACCTGGGCGGTGGTTCA	0.318		NA											30	64					0	0	0	0
FAM58A	92002	broad.mit.edu	37	X	152860037	152860037	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:152860037G>T	uc010nug.2	-	2	314	c.211C>A	c.(211-213)CGC>AGC	p.R71S				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	133					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAAGCGCAGAACTCTC	0.537		NA											8	98					5.18e-06	8.13e-06	1	0
SSR4	6748	broad.mit.edu	37	X	153063240	153063240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:153063240G>A	uc004fiw.2	+	4	371	c.322G>A	c.(322-324)GAC>AAC	p.D108N	SSR4_uc004fiv.2_Missense_Mutation_p.D119N	NM_006280	NP_006271	P51571	SSRD_HUMAN	signal sequence receptor, delta precursor	108	Lumenal (Potential).				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGATTCTTCGACGAGGAGTC	0.617		NA											6	15					0	0	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795867	43795873	+	Frame_Shift_Del	DEL	GGTGTAC	GGTGTAC	-			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:43795867_43795873delGGTGTAC	uc002zbb.2	-	12	1500_1506	c.1299_1305delGTACACC	c.(1297-1305)GTGTACACCfs	p.V433fs	TMPRSS3_uc002zay.2_Frame_Shift_Del_p.V190fs|TMPRSS3_uc002zaz.2_Frame_Shift_Del_p.V306fs|TMPRSS3_uc002zba.2_Frame_Shift_Del_p.V306fs|TMPRSS3_uc002zbc.2_Frame_Shift_Del_p.V432fs	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	433_435	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						AGGTGACACGGGTGTACACCCCAGGCT	0.628		NA											40	69	---	---	---	---	NA	NA	NA	NA
IMPDH2	3615	broad.mit.edu	37	3	49063994	49063999	+	In_Frame_Del	DEL	TGTACT	TGTACT	-			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49063994_49063999delTGTACT	uc003cvt.2	-	8	955_960	c.863_868delAGTACA	c.(862-870)AAGTACATC>ATC	p.KY288del		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	288_289					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTGTCTTTGATGTACTTGATCATATT	0.485		NA											7	2	---	---	---	---	NA	NA	NA	NA
