Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PRKCZ	5590	broad.mit.edu	37	1	1991000	1991000	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:1991000C>A	uc001aiq.2	+	4	465	c.304C>A	c.(304-306)CAG>AAG	p.Q102K		NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	102	Interaction with SQSTM1 (By similarity).				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CACCCCTGAGCAGCCTGGCCT	0.592		NA											6	26					1.07e-07	1.44e-07	1	0
DNAJC11	55735	broad.mit.edu	37	1	6697514	6697514	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:6697514G>A	uc001aof.2	-	13	1480	c.1374C>T	c.(1372-1374)TCC>TCT	p.S458S	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.S406S|DNAJC11_uc010nzu.1_Silent_p.S368S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	458					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCATTCTGGACTCTTCTG	0.582		NA											96	67					0	0	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819809	70819809	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:70819809G>A	uc001dex.3	-	1	609	c.283C>T	c.(283-285)CTG>TTG	p.L95L	ANKRD13C_uc009wbk.2_Silent_p.L95L|ANKRD13C_uc001dey.3_Silent_p.L95L|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						GTGCCGGCCAGAAGGGCCGGG	0.672		NA											45	17					0	0	0	0
ELTD1	64123	broad.mit.edu	37	1	79412073	79412073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:79412073C>T	uc001diq.3	-	3	367	c.211G>A	c.(211-213)GAA>AAA	p.E71K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	71	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323		NA											18	11					0	0	0	0
GBP7	388646	broad.mit.edu	37	1	89613381	89613381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:89613381G>A	uc001dna.2	-	8	1373	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W	GBP2_uc001dmy.1_RNA	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	412						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTGAAAGCCGCTTAAGCTCA	0.438		NA											137	58					0	0	0	0
OLFM3	118427	broad.mit.edu	37	1	102312416	102312416	+	Silent	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:102312416C>A	uc001duf.2	-	1	185	c.114G>T	c.(112-114)TCG>TCT	p.S38S	OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	38						extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TATCCGGAGTCGACAGCCTCG	0.473		NA											10	54					9.7e-10	1.32e-09	1	0
KCNA2	3737	broad.mit.edu	37	1	111146468	111146468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:111146468C>A	uc001dzu.2	-	2	1433	c.937G>T	c.(937-939)GGT>TGT	p.G313C	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.G313C	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	313						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCTGGAGACCTTTGGAGTGT	0.502		NA											21	71					7.42e-09	1.01e-08	1	0
NBPF10	100132406	broad.mit.edu	37	1	145368630	145368630	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:145368630G>A	uc001end.3	+	86	10868	c.10833G>A	c.(10831-10833)TTG>TTA	p.L3611L	NBPF9_uc010oye.1_Silent_p.L895L|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.L464L|NBPF10_uc010oyk.1_Silent_p.L252L|NBPF10_uc010oyl.1_Silent_p.L252L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3536											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTTACTTTGACGGTGACAA	0.463		NA											44	311					0	0	0	0
CRNN	49860	broad.mit.edu	37	1	152383333	152383333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:152383333C>T	uc001ezx.2	-	3	299	c.225G>A	c.(223-225)CTG>CTA	p.L75L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	75	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTAAGACCAGGAATTCCT	0.542		NA											30	53					0	0	0	0
LAMC1	3915	broad.mit.edu	37	1	183086740	183086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:183086740G>C	uc001gpy.3	+	10	2016	c.1759G>C	c.(1759-1761)GAT>CAT	p.D587H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	587	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGCGAGATACTCGCCT	0.507		NA											67	43					0	0	0	0
FAM5C	339479	broad.mit.edu	37	1	190068199	190068199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:190068199C>T	uc001gse.1	-	8	1482	c.1250G>A	c.(1249-1251)GGC>GAC	p.G417D	FAM5C_uc010pot.1_Missense_Mutation_p.G315D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	417						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGAAAAGCTGCCTAGGAGGCC	0.517		NA											4	42					0	0	0	0
ITPKB	3707	broad.mit.edu	37	1	226923395	226923395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:226923395G>A	uc010pvo.1	-	2	2105	c.1765C>T	c.(1765-1767)CCT>TCT	p.P589S	ITPKB_uc001hqh.2_Missense_Mutation_p.P589S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	589							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TTGCCCCGAGGGCTTCCCTGC	0.597		NA											11	35					0	0	0	0
ERCC6	2074	broad.mit.edu	37	10	50678260	50678260	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:50678260T>A	uc001jhs.3	-	18	3900	c.3746A>T	c.(3745-3747)GAT>GTT	p.D1249V	ERCC6_uc009xod.2_Missense_Mutation_p.D409V|ERCC6_uc010qgr.1_Missense_Mutation_p.D619V|ERCC6_uc001jhr.3_Missense_Mutation_p.D617V	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1249					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CAAAACATAATCGTCATTGCT	0.408		NA						Direct_reversal_of_damage|NER					113	89					0	0	0	0
UNC5B	219699	broad.mit.edu	37	10	73050851	73050851	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:73050851A>C	uc001jro.2	+	9	1724	c.1279A>C	c.(1279-1281)AAG>CAG	p.K427Q	UNC5B_uc001jrp.2_Missense_Mutation_p.K416Q	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	427	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CGTCAACTTTAAGACGGCAAG	0.607		NA											19	178					0	0	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347301	135347301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135347301C>G	uc001lnj.1	+	6	900	c.867C>G	c.(865-867)ATC>ATG	p.I289M	CYP2E1_uc001lnk.1_Missense_Mutation_p.I152M|CYP2E1_uc009ybl.1_Missense_Mutation_p.I90M|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.I90M	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	289					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGGACGGTATCACCGTGACTG	0.527		NA							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				29	130					0	0	0	0
FRG2B	441581	broad.mit.edu	37	10	135438868	135438868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135438868G>A	uc010qvg.1	-	4	625	c.572C>T	c.(571-573)GCC>GTC	p.A191V		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCACACCTGGGCTAGGTCTTG	0.572		NA											10	101					0	0	0	0
PDHX	8050	broad.mit.edu	37	11	34988327	34988327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:34988327C>T	uc001mvt.2	+	6	1308	c.782C>T	c.(781-783)CCA>CTA	p.P261L	PDHX_uc010rep.1_Missense_Mutation_p.P246L|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	261					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCTGTGATCCCACCAGTATCA	0.438		NA											24	41					0	0	0	0
OR4C46	119749	broad.mit.edu	37	11	51516007	51516007	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:51516007C>T	uc010ric.1	+	1	726	c.726C>T	c.(724-726)ATC>ATT	p.I242I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTCCCACATCACGGTTGTCA	0.468		NA											23	45					0	0	0	0
FKBP2	2286	broad.mit.edu	37	11	64009862	64009862	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64009862G>T	uc001nyy.2	+	2	199	c.3G>T	c.(1-3)ATG>ATT	p.M1I	FKBP2_uc010rnh.1_Missense_Mutation_p.M1I|FKBP2_uc001nyz.2_Missense_Mutation_p.M1I	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	1					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						ACAGAGACATGAGGCTGAGCT	0.647		NA											14	104					3.46e-05	4.56e-05	1	0
FKBP2	2286	broad.mit.edu	37	11	64011493	64011493	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64011493G>C	uc001nyy.2	+	6	617	c.421G>C	c.(421-423)GAG>CAG	p.E141Q	FKBP2_uc010rnh.1_Missense_Mutation_p.E141Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E141Q	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	141	Prevents secretion from ER (Potential).				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						GCGACGAACTGAGCTGTAACC	0.488		NA											16	136					0	0	0	0
NRXN2	9379	broad.mit.edu	37	11	64390422	64390422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64390422C>T	uc001oap.2	-	6	1349	c.838G>A	c.(838-840)GAG>AAG	p.E280K	NRXN2_uc001oar.2_Missense_Mutation_p.E1326K|NRXN2_uc001oas.2_Missense_Mutation_p.E1256K|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.E993K	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	280	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGGTCGCTCTCGGCGGCCAGC	0.706		NA											19	5					0	0	0	0
NRXN2	9379	broad.mit.edu	37	11	64457916	64457916	+	Missense_Mutation	SNP	C	C	A	rs138744105		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64457916C>A	uc001oar.2	-	6	1250	c.811G>T	c.(811-813)GGG>TGG	p.G271W	NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCTCCTCTCCCGGCCCCCCCC	0.642		NA											8	47					0.000442599	0.000566632	1	0
DHCR7	1717	broad.mit.edu	37	11	71148918	71148918	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:71148918G>A	uc001oqk.2	-	8	1153	c.903C>T	c.(901-903)CAC>CAT	p.H301H	DHCR7_uc001oql.2_Silent_p.H301H	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	301					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	ACCACCCGAAGTGGTCATGGC	0.582		NA							Smith-Lemli-Opitz_syndrome				12	93					0	0	0	0
MMP1	4312	broad.mit.edu	37	11	102663445	102663445	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:102663445G>C	uc001phi.2	-	7	1067	c.924C>G	c.(922-924)TTC>TTG	p.F308L	uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.F242L	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	308	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTTCCGGGTAGAAGGGATTTG	0.433		NA											17	41					0	0	0	0
PPHLN1	51535	broad.mit.edu	37	12	42792759	42792759	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:42792759C>G	uc001rng.1	+	9	977	c.872C>G	c.(871-873)TCT>TGT	p.S291C	PPHLN1_uc001rmy.2_Missense_Mutation_p.S309C|PPHLN1_uc001rna.2_Missense_Mutation_p.S243C|PPHLN1_uc001rne.2_Missense_Mutation_p.S279C|PPHLN1_uc001rnb.2_Missense_Mutation_p.S298C|PPHLN1_uc001rnd.2_Missense_Mutation_p.S243C|PPHLN1_uc001rnc.2_Missense_Mutation_p.S291C|PPHLN1_uc001rnf.2_Missense_Mutation_p.S272C|PPHLN1_uc010skq.1_Missense_Mutation_p.S217C|PPHLN1_uc010skr.1_Missense_Mutation_p.S236C|PPHLN1_uc010sks.1_Missense_Mutation_p.S217C|PPHLN1_uc010skt.1_Missense_Mutation_p.S171C|PPHLN1_uc001rni.1_Missense_Mutation_p.S236C|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.S224C|PPHLN1_uc001rnj.2_Missense_Mutation_p.S107C	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	291					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ACCACTCGCTCTAAAGCAATA	0.393		NA											21	43					0	0	0	0
NELL2	4753	broad.mit.edu	37	12	44913891	44913891	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:44913891C>G	uc001rog.2	-	19	2892	c.2297G>C	c.(2296-2298)CGC>CCC	p.R766P	NELL2_uc001rof.3_Missense_Mutation_p.R765P|NELL2_uc001roh.2_Missense_Mutation_p.R766P|NELL2_uc009zkd.2_Missense_Mutation_p.R718P|NELL2_uc010skz.1_Missense_Mutation_p.R816P|NELL2_uc010sla.1_Missense_Mutation_p.R789P	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	766	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATGTCATTGCGGATGGTGTC	0.552		NA											10	74					0	0	0	0
KRT5	3852	broad.mit.edu	37	12	52912854	52912854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:52912854C>A	uc001san.2	-	2	809	c.646G>T	c.(646-648)GAG>TAG	p.E216*	KRT5_uc009zmh.2_Nonsense_Mutation_p.E216*	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	216	Rod.|Linker 1.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AACAACGGCTCCAGGTTCTGC	0.602		NA											43	77					4.16e-14	5.77e-14	1	0
ITGA7	3679	broad.mit.edu	37	12	56087845	56087845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:56087845G>A	uc001shh.2	-	19	2727	c.2507C>T	c.(2506-2508)TCT>TTT	p.S836F	ITGA7_uc001shg.2_Missense_Mutation_p.S832F|ITGA7_uc010sps.1_Missense_Mutation_p.S739F|ITGA7_uc009znw.2_Missense_Mutation_p.S79F|ITGA7_uc009znx.2_Missense_Mutation_p.S713F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	876	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						ATCCCGCTCAGACTGCATGGC	0.592		NA											4	21					0	0	0	0
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:109863801C>G	uc010sxn.1	+	17	1728	c.1728C>G	c.(1726-1728)ATC>ATG	p.I576M		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						AAACCCTCATCTCTAAGGAGC	0.408		NA											12	38					0	0	0	0
VPS33A	65082	broad.mit.edu	37	12	122723220	122723220	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:122723220C>A	uc001ucd.2	-	10	1329	c.1216G>T	c.(1216-1218)GTG>TTG	p.V406L	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	406					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGTCTTAACACCTTGATCAAC	0.308		NA											61	124					3.14e-25	4.42e-25	1	0
EIF2B1	1967	broad.mit.edu	37	12	124107222	124107222	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:124107222G>A	uc001ufm.2	-	8	857	c.714C>T	c.(712-714)CTC>CTT	p.L238L	EIF2B1_uc001ufn.2_Silent_p.L236L	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	238					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTAGTGGAAAGAGCCGGACAA	0.418		NA											16	79					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184841	130184841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:130184841G>T	uc009zyl.1	-	2	810	c.482C>A	c.(481-483)GCC>GAC	p.A161D		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	161	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTCCCCGGCGCTGCGGTC	0.642		NA											7	24					8.13e-05	0.000105618	1	0
POLE	5426	broad.mit.edu	37	12	133245062	133245062	+	Missense_Mutation	SNP	G	G	A	rs116326665	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:133245062G>A	uc001uks.1	-	19	2097	c.2053C>T	c.(2053-2055)CGG>TGG	p.R685W	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R658W	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	685					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCTGGATCCGATGGTATTCG	0.592		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					41	85					0	0	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050072	36050072	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:36050072G>A	uc001uvc.2	-	1	761	c.204C>T	c.(202-204)GTC>GTT	p.V68V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	68					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGGGGGAGATGACCTCGAGGC	0.552		NA											24	64					0	0	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123786	50123786	+	Splice_Site	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:50123786T>C	uc001vde.1	-	9	1116	c.855_splice	c.e9-1	p.R285_splice		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and						cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCTACCACCCTGAAAAGTTTT	0.502		NA											3	60					0	0	0	0
PCDH20	64881	broad.mit.edu	37	13	61987588	61987588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:61987588G>A	uc001vid.3	-	2	1008	c.644C>T	c.(643-645)TCG>TTG	p.S215L	PCDH20_uc010thj.1_Missense_Mutation_p.S215L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	188	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GACCCACACCGAGATCTGGGA	0.532		NA											18	63					0	0	0	0
DOCK9	23348	broad.mit.edu	37	13	99476728	99476728	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:99476728C>A	uc001vnt.2	-	46	5112	c.5057G>T	c.(5056-5058)AGG>ATG	p.R1686M	DOCK9_uc001vnw.2_Missense_Mutation_p.R1685M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1663M|DOCK9_uc001vnq.2_Missense_Mutation_p.R235M|DOCK9_uc001vnr.2_Missense_Mutation_p.R329M|DOCK9_uc010tin.1_Missense_Mutation_p.R306M|DOCK9_uc001vns.2_Missense_Mutation_p.R235M|DOCK9_uc010tio.1_Missense_Mutation_p.R355M|DOCK9_uc010tip.1_Missense_Mutation_p.R396M|DOCK9_uc001vnu.1_Missense_Mutation_p.R235M|DOCK9_uc010tiq.1_Missense_Mutation_p.R641M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1686	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTAATGACCCTGAAGGCGGT	0.542		NA											30	85					9.65e-13	1.33e-12	1	0
PCCA	5095	broad.mit.edu	37	13	100982841	100982841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:100982841C>T	uc001voo.2	+	17	1494	c.1456C>T	c.(1456-1458)CGA>TGA	p.R486*	PCCA_uc010aga.2_Nonsense_Mutation_p.R460*|PCCA_uc010tiz.1_Nonsense_Mutation_p.R486*|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	486	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGCATTACTTCGAGAGGTGAT	0.323		NA											5	31					0	0	0	0
LIG4	3981	broad.mit.edu	37	13	108863582	108863582	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:108863582G>C	uc001vqn.2	-	2	308	c.35C>G	c.(34-36)TCT>TGT	p.S12C	LIG4_uc001vqo.2_Missense_Mutation_p.S12C|LIG4_uc010agg.1_Intron|LIG4_uc010agf.2_Missense_Mutation_p.S12C|LIG4_uc001vqp.2_Missense_Mutation_p.S12C	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	12					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGGAACGTGAGATGCAACAGT	0.353		NA						NHEJ					8	24					0	0	0	0
DHRS2	10202	broad.mit.edu	37	14	24114362	24114362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr14:24114362C>G	uc001wkt.3	+	9	1201	c.754C>G	c.(754-756)CAG>GAG	p.Q252E	DHRS2_uc001wku.3_Nonsense_Mutation_p.S248*|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.V249V	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	Error:Variant_position_missing_in_Q13268_after_alignment					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		ATTGGGGAGTCAGAGGACTGT	0.567		NA											33	111					0	0	0	0
C15orf24	56851	broad.mit.edu	37	15	34380295	34380295	+	Silent	SNP	G	G	A	rs151160666		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:34380295G>A	uc001zhm.2	-	4	548	c.535C>T	c.(535-537)CTG>TTG	p.L179L	C15orf24_uc001zhn.2_Silent_p.L62L	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	chromosome 15 open reading frame 24 precursor	179	Helical; (Potential).					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding				0		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ACTTTAGGCAGAAGCACAAAT	0.308		NA											3	22					0	0	0	0
DISP2	85455	broad.mit.edu	37	15	40655921	40655921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:40655921C>T	uc001zlk.1	+	2	304	c.215C>T	c.(214-216)CCC>CTC	p.P72L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	72					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTTCAGGACCCCCACCAACA	0.657		NA											36	65					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132731	42132731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132731C>G	uc010bco.2	+	3	193	c.92C>G	c.(91-93)TCT>TGT	p.S31C	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	31	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GTGACCCCCTCTGACTGCTAC	0.622		NA											17	62					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132977	42132977	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132977C>T	uc010bco.2	+	4	326	c.225C>T	c.(223-225)GTC>GTT	p.V75V	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V306V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V306V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	75	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TCCAGAATGTCATGGAACTGA	0.592		NA											20	62					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42133453	42133453	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42133453C>T	uc010bco.2	+	6	518	c.417C>T	c.(415-417)GTC>GTT	p.V139V	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V370V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V370V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	139					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						AGTGGCTCGTCAGCAATGGCG	0.667		NA											17	85					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134763	42134763	+	Missense_Mutation	SNP	G	G	A	rs2290552	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134763G>A	uc010bco.2	+	10	818	c.717G>A	c.(715-717)ATG>ATA	p.M239I	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	239					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						AGCCCCTGATGAGAGTGGAGC	0.637		NA											7	37					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134775	42134775	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134775G>A	uc010bco.2	+	10	830	c.729G>A	c.(727-729)CTG>CTA	p.L243L	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.L474L|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.L474L|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	243					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GAGTGGAGCTGAAAAAAGAAG	0.627		NA											7	38					0	0	0	0
WDR76	79968	broad.mit.edu	37	15	44158387	44158387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:44158387G>A	uc001zti.1	+	13	1701	c.1678G>A	c.(1678-1680)GAA>AAA	p.E560K		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	560	WD 6.										0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCTAAACAAGAAGACTGTGT	0.458		NA											16	54					0	0	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408913	45408913	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:45408913C>T	uc001zuo.2	+	4	820	c.540C>T	c.(538-540)GCC>GCT	p.A180A	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	180	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GACACTACGCCTCGGCCACGC	0.647		NA											7	17					0	0	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678901	65678901	+	Missense_Mutation	SNP	C	C	T	rs147594173	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:65678901C>T	uc002aou.1	-	17	3149	c.2939G>A	c.(2938-2940)CGC>CAC	p.R980H	IGDCC4_uc002aot.1_Missense_Mutation_p.R568H	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	980	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GTGGGGGCTGCGGCGCAGGCC	0.632		NA									OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0	0
ITGA11	22801	broad.mit.edu	37	15	68605146	68605146	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:68605146C>T	uc002ari.2	-	24	3025	c.2938G>A	c.(2938-2940)GAT>AAT	p.D980N	ITGA11_uc010bib.2_Missense_Mutation_p.D980N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	980	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCGATACCATCGTATCTCTCC	0.637		NA											7	29					0	0	0	0
OR4F4	26682	broad.mit.edu	37	15	102462360	102462360	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:102462360A>G	uc002cdf.1	-	1	903	c.903T>C	c.(901-903)TCT>TCC	p.S301S		NM_001004195	NP_001004195	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACTTTACACTAGAATGTGCAT	0.343		NA											23	267					0	0	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18809332	18809332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:18809332C>G	uc002dfl.1	-	3	274	c.205G>C	c.(205-207)GGC>CGC	p.G69R	ARL6IP1_uc010van.1_Missense_Mutation_p.G40R|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	69	Helical; (Potential).					integral to membrane	protein binding				0						CAGGAAACGCCGGACAGAACA	0.343		NA											7	44					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20975470	20975470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:20975470G>C	uc010vbe.1	-	53	9736	c.9736C>G	c.(9736-9738)CTC>GTC	p.L3246V	DNAH3_uc010vbd.1_Missense_Mutation_p.L681V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3246	AAA 5 (By similarity).				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)		GACATGGAGAGAACCTCCAAG	0.443		NA											33	98					0	0	0	0
LONP2	83752	broad.mit.edu	37	16	48382183	48382183	+	Silent	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:48382183G>C	uc002efi.1	+	14	2408	c.2319G>C	c.(2317-2319)CTG>CTC	p.L773L	LONP2_uc002efj.1_Silent_p.L729L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	773					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						AAATTACACTGAGAGGTCTTG	0.348		NA											31	112					0	0	0	0
CHD9	80205	broad.mit.edu	37	16	53272475	53272475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:53272475G>A	uc002ehb.2	+	11	3018	c.2854G>A	c.(2854-2856)GAG>AAG	p.E952K	CHD9_uc002egy.2_Missense_Mutation_p.E952K|CHD9_uc002eha.1_Missense_Mutation_p.E952K|CHD9_uc002ehc.2_Missense_Mutation_p.E952K|CHD9_uc002ehf.2_Missense_Mutation_p.E66K|CHD9_uc002ehd.2_Missense_Mutation_p.E478K|CHD9_uc002ehe.1_Missense_Mutation_p.E66K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	952	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACAGCAATACGAGATGTACTT	0.373		NA											46	127					0	0	0	0
VPS53	55275	broad.mit.edu	37	17	617910	617910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:617910C>G	uc002frn.2	-	1	187	c.40G>C	c.(40-42)GAA>CAA	p.E14Q	VPS53_uc010cjo.1_Missense_Mutation_p.E14Q|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E14Q|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.E14Q	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	14					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGCACGGCTTCCAGCTCCTCC	0.701		NA											16	99					0	0	0	0
ZNF594	84622	broad.mit.edu	37	17	5087253	5087253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:5087253C>T	uc010cla.1	-	2	455	c.299G>A	c.(298-300)AGA>AAA	p.R100K		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						AACCTCATATCTATGGGAGCT	0.373		NA											12	57					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10296300	10296300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:10296300C>A	uc002gmm.2	-	37	5406	c.5311G>T	c.(5311-5313)GAG>TAG	p.E1771*	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1771	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTCTTCAGCTCCTCAGCCATC	0.483		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				36	147					6.71e-13	9.24e-13	1	0
KIAA0100	9703	broad.mit.edu	37	17	26960318	26960318	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:26960318G>A	uc002hbu.2	-	19	3666	c.3567C>T	c.(3565-3567)AAC>AAT	p.N1189N		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1189						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTGTTCTCACGTTGATATCCA	0.512		NA											26	123					0	0	0	0
GPR179	440435	broad.mit.edu	37	17	36482452	36482452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:36482452C>A	uc002hpz.2	-	11	7021	c.7000G>T	c.(7000-7002)GAG>TAG	p.E2334*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2334	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACTGAGACTCAGCTTCCTGG	0.507		NA											29	135					1.75e-13	2.42e-13	1	0
DHX8	1659	broad.mit.edu	37	17	41584941	41584941	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:41584941T>C	uc002idu.1	+	14	2067	c.1994T>C	c.(1993-1995)ATG>ACG	p.M665T	DHX8_uc010wif.1_Missense_Mutation_p.M574T|DHX8_uc010wig.1_Missense_Mutation_p.M665T	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	665	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAGATGGGATGTTGCTTAGA	0.478		NA											13	60					0	0	0	0
CHAD	1101	broad.mit.edu	37	17	48542772	48542772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:48542772C>T	uc010dbr.2	-	3	1020	c.967G>A	c.(967-969)GAT>AAT	p.D323N	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.D323N|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	323	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGTGGCATCTGGGCGGGAG	0.617		NA											12	52					0	0	0	0
ACE	1636	broad.mit.edu	37	17	61571742	61571742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:61571742C>G	uc002jau.1	+	22	3313	c.3291C>G	c.(3289-3291)TAC>TAG	p.Y1097*	ACE_uc002jav.1_Nonsense_Mutation_p.Y523*|ACE_uc010ddv.1_Nonsense_Mutation_p.Y324*|ACE_uc010wpj.1_Nonsense_Mutation_p.Y523*|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Nonsense_Mutation_p.Y343*	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1097	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCTGAAGTACCAGGGCCTCT	0.552		NA											4	45					0	0	0	0
9-Sep	10801	broad.mit.edu	37	17	75484325	75484325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:75484325T>C	uc002jts.3	+	6	1172	c.1046T>C	c.(1045-1047)ATT>ACT	p.I349T	SEPT9_uc010wtk.1_Missense_Mutation_p.I330T|SEPT9_uc002jtt.3_Missense_Mutation_p.I185T|SEPT9_uc002jtu.3_Missense_Mutation_p.I331T|SEPT9_uc002jtv.2_Missense_Mutation_p.I342T|SEPT9_uc002jtw.2_Missense_Mutation_p.I185T|SEPT9_uc010wtl.1_Missense_Mutation_p.I125T|SEPT9_uc002jty.3_Missense_Mutation_p.I98T|SEPT9_uc010wtm.1_Missense_Mutation_p.I98T|SEPT9_uc010wtn.1_Missense_Mutation_p.I98T|SEPT9_uc010dhd.2_Missense_Mutation_p.I237T	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	349					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGTGCAGATATTGAGGAGAAA	0.612		NA											27	42					0	0	0	0
TMC6	11322	broad.mit.edu	37	17	76113582	76113582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76113582G>A	uc002juj.1	-	16	2291	c.2165C>T	c.(2164-2166)ACC>ATC	p.T722I	TMC6_uc002jui.1_Missense_Mutation_p.T301I|TMC6_uc010dhf.1_Missense_Mutation_p.T555I|TMC6_uc002juk.2_Missense_Mutation_p.T722I|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.T722I	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	722	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACAAAGAAGGTGTTTTCCAT	0.682		NA							Epidermodysplasia_Verruciformis_Familial_Clustering_of				4	7					0	0	0	0
USP36	57602	broad.mit.edu	37	17	76832439	76832439	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76832439T>C	uc002jvz.1	-	3	332	c.7A>G	c.(7-9)ATA>GTA	p.I3V	USP36_uc002jwa.1_Missense_Mutation_p.I3V|USP36_uc002jwd.1_Missense_Mutation_p.I3V	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	3					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTATCCACTATTGGCATGGTG	0.493		NA											23	41					0	0	0	0
CCDC57	284001	broad.mit.edu	37	17	80146213	80146213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:80146213C>G	uc002kdz.1	-	8	1289	c.934G>C	c.(934-936)GAG>CAG	p.E312Q	CCDC57_uc002kdx.1_Missense_Mutation_p.E312Q	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	312	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTCTGCAGCTCCTGCAGCTGC	0.642		NA											5	12					0	0	0	0
CD97	976	broad.mit.edu	37	19	14512333	14512333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:14512333C>T	uc002myl.2	+	10	1156	c.1033C>T	c.(1033-1035)CTG>TTG	p.L345L	CD97_uc002mym.2_Silent_p.L296L|CD97_uc002myn.2_Silent_p.L252L	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	345	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						GGCCAAGAGCCTGCCTAAAGG	0.622		NA											7	51					0	0	0	0
CD79A	973	broad.mit.edu	37	19	42383229	42383229	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:42383229G>A	uc002orv.2	+	2	434	c.249G>A	c.(247-249)CCG>CCA	p.P83P	CD79A_uc002oru.2_Silent_p.P83P	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	83	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TCTTGGGCCCGGGCGAGGACC	0.602		NA	O|S		DLBCL								6	100					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56459551	56459551	+	Nonsense_Mutation	SNP	C	C	T	rs145469757	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:56459551C>T	uc002qmh.2	+	1	354	c.283C>T	c.(283-285)CGA>TGA	p.R95*	NLRP8_uc010etg.2_Nonsense_Mutation_p.R95*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTCCCTGGACGACGCGCTTG	0.512		NA											13	26					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57335633	57335633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:57335633C>T	uc002qnu.2	-	1	742	c.391G>A	c.(391-393)GAA>AAA	p.E131K	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.E5K|ZIM2_uc002qnq.2_Missense_Mutation_p.E5K|ZIM2_uc010etp.2_Missense_Mutation_p.E5K|ZIM2_uc010ygs.1_Missense_Mutation_p.E5K|PEG3_uc002qnt.2_Missense_Mutation_p.E131K|PEG3_uc002qnv.2_Missense_Mutation_p.E131K|PEG3_uc002qnw.2_Missense_Mutation_p.E5K|PEG3_uc002qnx.2_Missense_Mutation_p.E5K|PEG3_uc010etr.2_Missense_Mutation_p.E131K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	131					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCACCTTCTGGTTGGTAC	0.423		NA											14	102					0	0	0	0
KCNS3	3790	broad.mit.edu	37	2	18112572	18112572	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18112572C>T	uc002rcv.2	+	3	748	c.297C>T	c.(295-297)TTC>TTT	p.F99F	KCNS3_uc002rcw.2_Silent_p.F99F	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	99	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTCTCATTCTGCCAGGAGA	0.468		NA											37	77					0	0	0	0
KCNS3	3790	broad.mit.edu	37	2	18113212	18113212	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18113212C>T	uc002rcv.2	+	3	1388	c.937C>T	c.(937-939)CTA>TTA	p.L313L	KCNS3_uc002rcw.2_Silent_p.L313L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	313	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTCGGTCTCTAGGTGCCAC	0.498		NA											44	103					0	0	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452849	43452849	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:43452849C>T	uc002rsv.3	-	2	385	c.94G>A	c.(94-96)GAC>AAC	p.D32N	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	32					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCTTCTTGTCCAGCATGTTG	0.642		NA											7	18					0	0	0	0
TACR1	6869	broad.mit.edu	37	2	75347732	75347732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:75347732C>T	uc002sng.2	-	2	1137	c.552G>A	c.(550-552)TGG>TGA	p.W184*	TACR1_uc002snh.2_Nonsense_Mutation_p.W184*	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	184	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GATGCTCTGGCCATTCGATCA	0.547		NA											16	104					0	0	0	0
C2orf55	343990	broad.mit.edu	37	2	99448936	99448936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:99448936G>A	uc002szf.1	-	5	709	c.415C>T	c.(415-417)CCT>TCT	p.P139S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	139											0						CCCCCTGGAGGAGGTGGTGGC	0.502		NA											24	48					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170009390	170009390	+	Missense_Mutation	SNP	C	C	T	rs142934522	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:170009390C>T	uc002ues.2	-	67	12593	c.12380G>A	c.(12379-12381)CGC>CAC	p.R4127H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4127	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGATTATTGCGGCCGGATTC	0.473		NA											94	245					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:178098810C>G	uc002ulh.3	-	2	790	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			39	75					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179606289	179606289	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:179606289T>G	uc010zfh.1	-	46	11382	c.11158A>C	c.(11158-11160)ACA>CCA	p.T3720P	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3653P|TTN_uc010zfj.1_Missense_Mutation_p.T3528P|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATACATGTATACTCTCCC	0.393		NA											18	126					0	0	0	0
ABCB6	10058	broad.mit.edu	37	2	220078866	220078866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:220078866G>A	uc002vkc.1	-	8	1706	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	ABCB6_uc010fwe.1_Nonsense_Mutation_p.R431*|ABCB6_uc010zku.1_RNA	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	477	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTCTCGATAGCGTTCC	0.478		NA											34	103					0	0	0	0
DEFB127	140850	broad.mit.edu	37	20	139650	139650	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:139650G>A	uc002wcy.1	+	2	285	c.285G>A	c.(283-285)AAG>AAA	p.K95K		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	defensin, beta 127 preproprotein	95					defense response to bacterium|innate immune response	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAAGCCTGAAGACACAGTCTA	0.353		NA											8	30					0	0	0	0
C20orf3	57136	broad.mit.edu	37	20	24944531	24944531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:24944531T>G	uc002wty.2	-	9	1270	c.1169A>C	c.(1168-1170)GAG>GCG	p.E390A	C20orf3_uc002wtz.2_Missense_Mutation_p.E398A|C20orf3_uc010zsw.1_3'UTR	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	390	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						TTCGTGCACCTCGCTGATGTA	0.612		NA											52	57					0	0	0	0
GDF5	8200	broad.mit.edu	37	20	34022225	34022225	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34022225C>A	uc002xck.1	-	2	1307	c.988G>T	c.(988-990)GAC>TAC	p.D330Y	GDF5_uc010gfc.1_Missense_Mutation_p.D330Y|uc002xcj.2_Silent_p.V212V|GDF5_uc010zvc.1_Missense_Mutation_p.D330Y	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	330					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCGGCGCGGTCGAAGCCCAGG	0.632		NA											4	37					0.00024832	0.000320747	1	0
GDF5	8200	broad.mit.edu	37	20	34025402	34025402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34025402C>T	uc002xck.1	-	1	626	c.307G>A	c.(307-309)GGC>AGC	p.G103S	GDF5_uc010gfc.1_Missense_Mutation_p.G103S|GDF5_uc010zvc.1_Missense_Mutation_p.G103S	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	103					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTTCAGGGCCGCCCGGTCTG	0.632		NA											29	46					0	0	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870298	47870298	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:47870298T>A	uc002xui.2	-	11	3257	c.3010A>T	c.(3010-3012)ATA>TTA	p.I1004L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1004							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTCCACTATGACAATCCTC	0.527		NA											109	213					0	0	0	0
RBM38	55544	broad.mit.edu	37	20	55982844	55982844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:55982844C>T	uc010zzj.1	+	4	837	c.662C>T	c.(661-663)GCG>GTG	p.A221V	RBM38_uc010zzk.1_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	221					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCAGCACCCGCGGGCACCACT	0.682		NA											3	10					0	0	0	0
C2CD2	25966	broad.mit.edu	37	21	43338269	43338269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:43338269G>C	uc002yzw.2	-	5	907	c.665C>G	c.(664-666)TCT>TGT	p.S222C	C2CD2_uc002yzu.2_Missense_Mutation_p.S54C|C2CD2_uc002yzv.2_Missense_Mutation_p.S67C|C2CD2_uc002yzx.1_Missense_Mutation_p.S67C	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	222						cytosol|extracellular region|nucleus				ovary(1)	1						TGGAGAGGCAGAACCAGCCAA	0.512		NA											31	46					0	0	0	0
C21orf58	54058	broad.mit.edu	37	21	47737162	47737162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:47737162C>G	uc002zjf.2	-	4	1464	c.330G>C	c.(328-330)CAG>CAC	p.Q110H	C21orf58_uc002ziz.2_Missense_Mutation_p.Q27H|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.Q27H|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	110										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		CTTCCACGTTCTGCCGTTCTT	0.602		NA											6	12					0	0	0	0
PEX26	55670	broad.mit.edu	37	22	18570779	18570779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:18570779C>T	uc002znp.3	+	6	1065	c.856C>T	c.(856-858)CTC>TTC	p.L286F	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.L286F|PEX26_uc002znt.2_Missense_Mutation_p.L237F	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	286	Peroxisomal matrix (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						GCTGGCCCAGCTCTTCCGCTG	0.617		NA											98	192					0	0	0	0
GSTT1	2952	broad.mit.edu	37	22	24379500	24379500	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:24379500A>G	uc002zze.3	-	3	265	c.212T>C	c.(211-213)CTG>CCG	p.L71P	GSTT1_uc002zzf.3_Intron|GSTT1_uc010gug.2_Intron|GSTT1_uc011ajl.1_5'UTR|GSTT1_uc010guh.2_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	71	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			ovary(1)	1					Glutathione(DB00143)	CAGGTAGAGCAGGATGGCCAC	0.512		NA							Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial				16	72					0	0	0	0
APOL1	8542	broad.mit.edu	37	22	36657700	36657700	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:36657700G>A	uc003apf.2	+	5	414	c.246G>A	c.(244-246)CAG>CAA	p.Q82Q	APOL1_uc011amn.1_5'UTR|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.Q98Q|APOL1_uc011amo.1_5'UTR|APOL1_uc011amp.1_Silent_p.Q82Q|APOL1_uc011amq.1_Silent_p.Q64Q|APOL1_uc010gwx.2_5'UTR	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	82					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						TGAGCACACAGAATCTGCTAC	0.473		NA											18	58					0	0	0	0
NAGA	4668	broad.mit.edu	37	22	42463795	42463795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:42463795G>C	uc003bbx.2	-	4	435	c.298C>G	c.(298-300)CAT>GAT	p.H100D	NAGA_uc003bby.2_Missense_Mutation_p.H100D|NAGA_uc003bbw.3_Missense_Mutation_p.H100D	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	100					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						GGAATGCCATGAGGGAAGCGC	0.607		NA											17	99					0	0	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042418	49042418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:49042418C>T	uc003bim.3	+	2	239	c.122C>T	c.(121-123)GCC>GTC	p.A41V	FAM19A5_uc003bio.3_Missense_Mutation_p.A34V	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	41						extracellular region|integral to membrane				large_intestine(1)	1		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGTCAGCTGGCCGCCGGCACC	0.587		NA											21	47					0	0	0	0
SETD5	55209	broad.mit.edu	37	3	9488977	9488977	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:9488977T>C	uc003brt.2	+	14	2203	c.1768T>C	c.(1768-1770)TCT>CCT	p.S590P	SETD5_uc003brs.1_Missense_Mutation_p.S571P|SETD5_uc003bru.2_Missense_Mutation_p.S492P|SETD5_uc003brv.2_Missense_Mutation_p.S479P|SETD5_uc010hck.2_Missense_Mutation_p.S72P|SETD5_uc003brx.2_Missense_Mutation_p.S259P	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	590										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACCCGGAGGTCTTCCCAAGC	0.423		NA											48	106					0	0	0	0
HACL1	26061	broad.mit.edu	37	3	15642612	15642612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:15642612C>G	uc003caf.2	-	2	331	c.171G>C	c.(169-171)ATG>ATC	p.M57I	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M57I|HACL1_uc011avt.1_Missense_Mutation_p.M57I|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M57I|HACL1_uc010hep.2_Missense_Mutation_p.M57I|BTD_uc011avv.1_5'Flank|BTD_uc003cah.2_5'Flank|BTD_uc011avw.1_5'Flank|BTD_uc011avx.1_5'Flank	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	57					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GCTCATTCCTCATCCCGATGT	0.493		NA											8	24					0	0	0	0
DAG1	1605	broad.mit.edu	37	3	49570156	49570156	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:49570156G>C	uc003cxc.3	+	3	2630	c.2212G>C	c.(2212-2214)GAC>CAC	p.D738H		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	738	Extracellular (Potential).				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGAAGTGCCTGACAGGGACCC	0.592		NA											6	18					0	0	0	0
FAM116A	201627	broad.mit.edu	37	3	57616485	57616485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:57616485G>C	uc003dja.2	-	17	1545	c.1474C>G	c.(1474-1476)CAG>GAG	p.Q492E		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	492										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GAGGTTAGCTGAGGTCCTGTT	0.353		NA											10	25					0	0	0	0
ATP6V1A	523	broad.mit.edu	37	3	113497631	113497631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:113497631G>A	uc003eao.2	+	2	97	c.31G>A	c.(31-33)GAT>AAT	p.D11N	ATP6V1A_uc011bik.1_5'UTR	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						CAAAATACTCGATGAAGATAA	0.294		NA											5	34					0	0	0	0
FBXO40	51725	broad.mit.edu	37	3	121340738	121340738	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:121340738T>C	uc003eeg.2	+	3	672	c.462T>C	c.(460-462)ACT>ACC	p.T154T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	154					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GAGAGGCTACTGAGGAGGAAC	0.507		NA											24	23					0	0	0	0
MYLK	4638	broad.mit.edu	37	3	123452859	123452859	+	Silent	SNP	C	C	T	rs115018449	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:123452859C>T	uc003ego.2	-	10	1266	c.984G>A	c.(982-984)TCG>TCA	p.S328S	MYLK_uc011bjw.1_Silent_p.S328S|MYLK_uc003egp.2_Silent_p.S328S|MYLK_uc003egq.2_Silent_p.S328S|MYLK_uc003egr.2_Silent_p.S328S|MYLK_uc003egs.2_Silent_p.S152S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	328					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTTCTGGGCGAGTCCTTGC	0.647		NA											17	110					0	0	0	0
HPS3	84343	broad.mit.edu	37	3	148880010	148880010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:148880010G>A	uc003ewu.1	+	12	2322	c.2182G>A	c.(2182-2184)GAG>AAG	p.E728K	HPS3_uc011bnq.1_Missense_Mutation_p.E563K|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	728						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTTCCAACCGAGCTTGCACT	0.428		NA							Hermansky-Pudlak_syndrome				15	88					0	0	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198315	170198315	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:170198315C>A	uc003fgz.2	-	7	2072	c.1756G>T	c.(1756-1758)GGT>TGT	p.G586C	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	586						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TAGTCAGAACCAAAGATGATG	0.552		NA											12	56					0.00010058	0.000130304	1	0
CCDC39	339829	broad.mit.edu	37	3	180359892	180359892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:180359892C>A	uc010hxe.2	-	13	1878	c.1763G>T	c.(1762-1764)AGA>ATA	p.R588I	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	588	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGCTGTTTTCTTTTTTCTAG	0.358		NA											30	87					9.81e-20	1.37e-19	1	0
ABCC5	10057	broad.mit.edu	37	3	183707056	183707056	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:183707056T>C	uc003fmg.2	-	3	410	c.245A>G	c.(244-246)CAT>CGT	p.H82R	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.H82R|ABCC5_uc003fmh.2_Missense_Mutation_p.H82R|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.H82R|ABCC5_uc010hxo.2_Missense_Mutation_p.H82R	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	82						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGCCATGATGGTACTTTCC	0.502		NA											23	54					0	0	0	0
ATP13A3	79572	broad.mit.edu	37	3	194167697	194167697	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:194167697T>C	uc003fty.3	-	13	1858	c.1456A>G	c.(1456-1458)ATA>GTA	p.I486V	ATP13A3_uc003ftz.1_Missense_Mutation_p.I192V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	486					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAAATATTTATTCTTTGAGGA	0.383		NA											51	106					0	0	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036925	48036925	+	Silent	SNP	C	C	T	rs138156539	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48036925C>T	uc003gxw.2	+	5	555	c.489C>T	c.(487-489)AAC>AAT	p.N163N		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	163	Cytoplasmic (Potential).					integral to membrane					0						ACTTTTTAAACGAGCACTTGA	0.383		NA											23	26					0	0	0	0
TEC	7006	broad.mit.edu	37	4	48172263	48172263	+	Splice_Site	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48172263A>C	uc003gxz.2	-	5	545	c.454_splice	c.e5+1	p.S152_splice		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase						intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						ATGAATACTTACTGCTCTCAA	0.318		NA											16	50					0	0	0	0
PPEF2	5470	broad.mit.edu	37	4	76794404	76794404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:76794404C>T	uc003hix.2	-	12	1739	c.1382G>A	c.(1381-1383)CGA>CAA	p.R461Q	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R461Q	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	461	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCTCCTCCTCGAATAGTGTT	0.458		NA											41	32					0	0	0	0
DMP1	1758	broad.mit.edu	37	4	88583266	88583266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:88583266C>A	uc003hqv.2	+	6	440	c.336C>A	c.(334-336)GAC>GAA	p.D112E	DMP1_uc003hqw.2_Missense_Mutation_p.D96E	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	112					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTGGAGATGACACCTTTGGTG	0.478		NA											25	20					2.4e-15	3.33e-15	1	0
MTTP	4547	broad.mit.edu	37	4	100534246	100534246	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:100534246C>T	uc003hvc.3	+	16	2422	c.2166C>T	c.(2164-2166)GGC>GGT	p.G722G	MTTP_uc011cej.1_Silent_p.G749G	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	722					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGCATCTGGCGACCCTATCA	0.338		NA											11	60					0	0	0	0
KLHL2	11275	broad.mit.edu	37	4	166231784	166231784	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:166231784C>T	uc003irb.2	+	10	1378	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y	KLHL2_uc011cjm.1_Silent_p.Y377Y|KLHL2_uc003irc.2_Silent_p.Y285Y|KLHL2_uc010ira.2_Silent_p.Y26Y	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	373	Kelch 2.				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)		TAGATTCCTACGACCCTGTGA	0.478		NA											94	394					0	0	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675844	167675844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:167675844G>C	uc003iri.1	-	9	896	c.755C>G	c.(754-756)TCA>TGA	p.S252*	SPOCK3_uc011cjp.1_Nonsense_Mutation_p.S209*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.S261*|SPOCK3_uc011cjr.1_Nonsense_Mutation_p.S132*|SPOCK3_uc003irj.1_Nonsense_Mutation_p.S249*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.S201*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.S160*|SPOCK3_uc011cju.1_Nonsense_Mutation_p.S145*|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.S154*|SPOCK3_uc003irk.3_Nonsense_Mutation_p.S249*	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	252					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCAGCCAAGTGAGTCCTTGCA	0.373		NA											16	65					0	0	0	0
HK3	3101	broad.mit.edu	37	5	176308438	176308438	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176308438G>T	uc003mfa.2	-	18	2584	c.2492C>A	c.(2491-2493)GCT>GAT	p.A831D	HK3_uc003mez.2_Missense_Mutation_p.A387D	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	831	Catalytic.			A -> V (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGACACAGCCTGGCACAC	0.652		NA											3	21					6.4e-05	8.34e-05	1	0
ZNF346	23567	broad.mit.edu	37	5	176477792	176477792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176477792C>A	uc003mfi.2	+	5	601	c.558C>A	c.(556-558)TTC>TTA	p.F186L	ZNF346_uc011dfr.1_Missense_Mutation_p.F154L|ZNF346_uc011dfs.1_Missense_Mutation_p.F88L|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.F211L|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	186	Matrin-type 3.					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACAAGTTCTGCAGCCTCT	0.478		NA											13	44					1.5e-05	1.98e-05	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179294796	179294796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:179294796C>T	uc003mlh.2	-	18	2882	c.2845G>A	c.(2845-2847)GAG>AAG	p.E949K	TBC1D9B_uc003mli.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E125K|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E125K|TBC1D9B_uc011dgw.1_Missense_Mutation_p.E125K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	949						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTGTCCTCTGTGAAATAA	0.632		NA											8	15					0	0	0	0
MEP1A	4224	broad.mit.edu	37	6	46801214	46801214	+	Missense_Mutation	SNP	T	T	A	rs142787710	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:46801214T>A	uc010jzh.1	+	11	1590	c.1548T>A	c.(1546-1548)GAT>GAA	p.D516E	MEP1A_uc011dwg.1_Missense_Mutation_p.D238E|MEP1A_uc011dwh.1_Missense_Mutation_p.D544E|MEP1A_uc011dwi.1_Missense_Mutation_p.D416E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	516	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			AGGAGCCTGATGTCCGGAACA	0.517		NA											15	141					0	0	0	0
FAM135A	57579	broad.mit.edu	37	6	71232223	71232223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:71232223G>C	uc003pfj.2	+	11	1170	c.1037G>C	c.(1036-1038)AGA>ACA	p.R346T	FAM135A_uc003pfi.2_Missense_Mutation_p.R346T|FAM135A_uc003pfh.2_Missense_Mutation_p.R329T|FAM135A_uc003pfk.2_Missense_Mutation_p.R372T|FAM135A_uc003pfl.2_Missense_Mutation_p.R209T|FAM135A_uc003pfn.2_5'Flank|FAM135A_uc003pfo.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	346										central_nervous_system(1)	1						TAGGTACGCAGATTTTCTGAG	0.353		NA											24	139					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90434920	90434920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:90434920G>A	uc003pnn.1	-	38	5784	c.5668C>T	c.(5668-5670)CAG>TAG	p.Q1890*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1890					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTTACCTGAGTGAATCTG	0.423		NA											18	68					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100911241	100911241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:100911241G>A	uc003pqj.3	-	1	311	c.104C>T	c.(103-105)TCG>TTG	p.S35L	SIM1_uc010kcu.2_Missense_Mutation_p.S35L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	35	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGCTGCGAGGTGATAGC	0.453		NA											15	58					0	0	0	0
CDK19	23097	broad.mit.edu	37	6	111067348	111067348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:111067348G>A	uc003puh.1	-	2	258	c.185C>T	c.(184-186)TCG>TTG	p.S62L	CDK19_uc003pui.1_Missense_Mutation_p.S2L	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	62	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCTACAAGCCGACATGGATAT	0.269		NA											9	109					0	0	0	0
C6orf204	387119	broad.mit.edu	37	6	118887087	118887087	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:118887087C>G	uc003pxz.1	-	3	1213	c.625G>C	c.(625-627)GAG>CAG	p.E209Q	C6orf204_uc003pya.1_Missense_Mutation_p.E212Q|C6orf204_uc003pyb.2_Missense_Mutation_p.E209Q|C6orf204_uc011ebj.1_Missense_Mutation_p.E107Q|C6orf204_uc003pyc.2_Missense_Mutation_p.E212Q|C6orf204_uc011ebl.1_Missense_Mutation_p.E107Q	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	209						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		CTAAGCATCTCCATACTATCA	0.413		NA											4	157					0	0	0	0
RNF146	81847	broad.mit.edu	37	6	127607982	127607982	+	Missense_Mutation	SNP	G	G	A	rs146049752		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:127607982G>A	uc003qav.2	+	3	383	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	RNF146_uc003qat.2_Missense_Mutation_p.R74Q|RNF146_uc003qau.2_Missense_Mutation_p.R74Q|RNF146_uc003qaw.2_Missense_Mutation_p.R74Q	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	75	RING-type.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCTCTTTGTCGACAAGAAATT	0.443		NA											13	60					0	0	0	0
AKAP12	9590	broad.mit.edu	37	6	151671694	151671694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151671694C>T	uc011eep.1	+	4	2408	c.2168C>T	c.(2167-2169)ACG>ATG	p.T723M	AKAP12_uc003qoe.2_Missense_Mutation_p.T723M|AKAP12_uc003qof.2_Missense_Mutation_p.T625M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T618M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	723					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACAAAGAGACGGGGACAGAC	0.567		NA											12	133					0	0	0	0
AKAP12	9590	broad.mit.edu	37	6	151672232	151672232	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151672232A>G	uc011eep.1	+	4	2946	c.2706A>G	c.(2704-2706)GCA>GCG	p.A902A	AKAP12_uc003qoe.2_Silent_p.A902A|AKAP12_uc003qof.2_Silent_p.A804A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.A797A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	902					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGACGAGGGCAGCTACCATTA	0.532		NA											19	52					0	0	0	0
STK31	56164	broad.mit.edu	37	7	23830531	23830531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:23830531C>G	uc003sws.3	+	22	2793	c.2726C>G	c.(2725-2727)TCA>TGA	p.S909*	STK31_uc003swt.3_Nonsense_Mutation_p.S886*|STK31_uc011jze.1_Nonsense_Mutation_p.S909*|STK31_uc010kuq.2_Nonsense_Mutation_p.S886*|STK31_uc003swv.1_Nonsense_Mutation_p.S75*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	909	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TCTCCAGGTTCAGACTTATAT	0.353		NA											10	31					0	0	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225363	26225363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:26225363C>T	uc003sxq.2	+	4	2317	c.2045C>T	c.(2044-2046)TCA>TTA	p.S682L		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	682					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						CTGGTGGCCTCAGGCCACAAA	0.418		NA											13	41					0	0	0	0
HIP1	3092	broad.mit.edu	37	7	75172195	75172195	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:75172195G>A	uc003uds.1	-	28	2906	c.2865C>T	c.(2863-2865)TCC>TCT	p.S955S	HIP1_uc011kfz.1_Silent_p.S781S	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	955	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GTGATTTGCCGGAAATGGTTG	0.562		NA	T	PDGFRB	CMML								4	98					0	0	0	0
CALCR	799	broad.mit.edu	37	7	93055850	93055850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:93055850G>A	uc003umv.1	-	15	1606	c.1345C>T	c.(1345-1347)CAG>TAG	p.Q449*	CALCR_uc011kia.1_Nonsense_Mutation_p.Q229*|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.Q415*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q415*	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	431	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCCCAACGCTGGTTCCACTGA	0.547		NA											45	71					0	0	0	0
GPC2	221914	broad.mit.edu	37	7	99773453	99773453	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:99773453G>A	uc003utv.2	-	3	558	c.390C>T	c.(388-390)TAC>TAT	p.Y130Y	GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Silent_p.Y130Y|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	130						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGGCGGCCGTAGGAGTGGG	0.567		NA											41	50					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111517169	111517169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:111517169C>T	uc003vfx.2	-	17	1930	c.1661G>A	c.(1660-1662)GGG>GAG	p.G554E	DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.G554E|DOCK4_uc003vga.1_Missense_Mutation_p.G159E	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	554	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATTATTATTCCCAAGGAAAAT	0.338		NA											13	9					0	0	0	0
JHDM1D	80853	broad.mit.edu	37	7	139829433	139829433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:139829433T>C	uc003vvm.2	-	4	423	c.419A>G	c.(418-420)AAG>AGG	p.K140R		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	140					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GCCATGCATCTTTATAATTAT	0.353		NA											24	47					0	0	0	0
OR9A4	130075	broad.mit.edu	37	7	141619410	141619410	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:141619410C>T	uc003vwu.1	+	1	735	c.735C>T	c.(733-735)TTC>TTT	p.F245F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502		NA											7	107					0	0	0	0
ABCB8	11194	broad.mit.edu	37	7	150741174	150741174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:150741174G>A	uc003wil.3	+	16	2026	c.1933G>A	c.(1933-1935)GAG>AAG	p.E645K	ABCB8_uc010lpx.2_Missense_Mutation_p.E628K|ABCB8_uc011kvd.1_Missense_Mutation_p.E540K|ABCB8_uc003wim.3_Missense_Mutation_p.E423K|ABCB8_uc003wik.3_Missense_Mutation_p.E628K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	645	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGATGCAGAGTCCGAGCG	0.667		NA											6	22					0	0	0	0
MTUS1	57509	broad.mit.edu	37	8	17611659	17611659	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:17611659A>C	uc003wxv.2	-	2	2132	c.1658T>G	c.(1657-1659)TTG>TGG	p.L553W	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L553W|MTUS1_uc010lsz.2_Missense_Mutation_p.L553W	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	553						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TGTTCTGCTCAAGACTGTTTG	0.428		NA											39	148					0	0	0	0
CDCA2	157313	broad.mit.edu	37	8	25346199	25346199	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:25346199G>A	uc003xep.1	+	13	2144	c.1665G>A	c.(1663-1665)AAG>AAA	p.K555K	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.K555K|CDCA2_uc003xeq.1_Silent_p.K540K|CDCA2_uc003xer.1_Silent_p.K218K	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	555	Lys-rich.				cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCCTAAGAAGAGTCAGGTAA	0.313		NA											8	29					0	0	0	0
BAG4	9530	broad.mit.edu	37	8	38034583	38034583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:38034583G>A	uc003xky.1	+	1	478	c.196G>A	c.(196-198)GGC>AGC	p.G66S	LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Missense_Mutation_p.G66S	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	66					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCTGGGAGAAGGCGGAGGAGG	0.672		NA											8	16					0	0	0	0
WWP1	11059	broad.mit.edu	37	8	87423945	87423945	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:87423945A>G	uc003ydt.2	+	9	1183	c.903A>G	c.(901-903)GCA>GCG	p.A301A	WWP1_uc010mai.2_Silent_p.A77A	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	301					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						CTACCAGTGCAGAATTGGAAT	0.403		NA											22	57					0	0	0	0
GRHL2	79977	broad.mit.edu	37	8	102585906	102585906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:102585906C>T	uc010mbu.2	+	6	1075	c.745C>T	c.(745-747)CAG>TAG	p.Q249*	GRHL2_uc011lhi.1_Nonsense_Mutation_p.Q249*	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	249						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGCACATTTCAGTACACCCT	0.473		NA											44	62					0	0	0	0
ABRA	137735	broad.mit.edu	37	8	107773700	107773700	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:107773700C>T	uc003ymm.3	-	2	765	c.711G>A	c.(709-711)CAG>CAA	p.Q237Q		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	237					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGCTATATTTCTGTTGGGCTT	0.423		NA											19	137					0	0	0	0
FOXD4	2298	broad.mit.edu	37	9	117484	117484	+	Silent	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:117484G>T	uc003zfz.2	-	1	934	c.636C>A	c.(634-636)CCC>CCA	p.P212P		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	212	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAAGGGGTGGGGCAGGTGGG	0.716		NA											13	747					9.17e-09	1.24e-08	1	0
SMARCA2	6595	broad.mit.edu	37	9	2182188	2182188	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:2182188G>C	uc003zhc.2	+	31	4506	c.4407G>C	c.(4405-4407)AAG>AAC	p.K1469N	SMARCA2_uc003zhd.2_Missense_Mutation_p.K1451N|SMARCA2_uc010mha.2_Missense_Mutation_p.K1384N|SMARCA2_uc011llw.1_Missense_Mutation_p.K155N|SMARCA2_uc003zhf.2_Missense_Mutation_p.K133N|SMARCA2_uc011llx.1_Missense_Mutation_p.K115N|SMARCA2_uc003zhe.2_Missense_Mutation_p.K157N|SMARCA2_uc003zhg.2_Missense_Mutation_p.K115N|SMARCA2_uc010mhb.2_Missense_Mutation_p.K139N	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1469	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCTGGAGAAGGATGTCATGC	0.438		NA											39	508					0	0	0	0
SIT1	27240	broad.mit.edu	37	9	35650526	35650526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:35650526C>A	uc003zxe.1	-	2	306	c.209G>T	c.(208-210)CGG>CTG	p.R70L	SIT1_uc003zxf.1_Intron	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	70	Cytoplasmic (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCTGCTCCGGCCCCTGGT	0.597		NA											16	319					2e-07	2.68e-07	1	0
FRMPD1	22844	broad.mit.edu	37	9	37731065	37731065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:37731065G>A	uc004aag.1	+	9	867	c.823G>A	c.(823-825)GAA>AAA	p.E275K	FRMPD1_uc004aah.1_Missense_Mutation_p.E275K|FRMPD1_uc011lqm.1_Missense_Mutation_p.E97K|FRMPD1_uc011lqn.1_Missense_Mutation_p.E144K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	275	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCTGAAAGAAGACCCCGT	0.517		NA											35	244					0	0	0	0
VPS13A	23230	broad.mit.edu	37	9	79824394	79824394	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:79824394C>T	uc004akr.2	+	6	701	c.441C>T	c.(439-441)ATC>ATT	p.I147I	VPS13A_uc004akp.3_Silent_p.I147I|VPS13A_uc004akq.3_Silent_p.I147I|VPS13A_uc004aks.2_Silent_p.I147I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	147					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TTACACAGATCATAAAAAATC	0.254		NA											7	19					0	0	0	0
TLE4	7091	broad.mit.edu	37	9	82187743	82187743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:82187743G>A	uc004ald.2	+	1	866	c.17G>A	c.(16-18)AGA>AAA	p.R6K	TLE4_uc004alc.2_Missense_Mutation_p.R13K|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.R6K|TLE4_uc010mps.2_Missense_Mutation_p.R6K|TLE4_uc004alf.2_5'Flank	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CCGCAGACCAGACACCCAGTG	0.537		NA											8	41					0	0	0	0
PTCH1	5727	broad.mit.edu	37	9	98218642	98218642	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:98218642G>A	uc004avk.3	-	19	3410	c.3222C>T	c.(3220-3222)ATC>ATT	p.I1074I	PTCH1_uc010mro.2_Silent_p.I923I|PTCH1_uc010mrp.2_Silent_p.I923I|PTCH1_uc010mrq.2_Silent_p.I923I|PTCH1_uc004avl.3_Silent_p.I923I|PTCH1_uc010mrr.2_Silent_p.I1008I|PTCH1_uc004avm.3_Silent_p.I1073I	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1074	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTGATTCCGATGAGGCCCA	0.587		NA							Basal_Cell_Nevus_syndrome				29	36					0	0	0	0
TBC1D13	54662	broad.mit.edu	37	9	131566365	131566365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:131566365G>C	uc010myj.2	+	9	1008	c.885G>C	c.(883-885)TTG>TTC	p.L295F	TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Missense_Mutation_p.L114F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	295	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						ACTCCACCTTGAAAGATAAGG	0.537		NA											15	60					0	0	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554462	135554462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:135554462G>T	uc010mzv.2	+	2	1714	c.1456G>T	c.(1456-1458)GGT>TGT	p.G486C	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	486					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAGCCCCTGCGGTGCATACCT	0.468		NA											15	76					7.93e-07	1.06e-06	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011444	105011444	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:105011444T>C	uc004elz.1	+	11	2607	c.1851T>C	c.(1849-1851)TGT>TGC	p.C617C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	617	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TCAGGCACTGTTGCAGAGGTT	0.483		NA											14	121					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694349	153694349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:153694349G>T	uc004flm.2	+	14	2777	c.2604G>T	c.(2602-2604)TTG>TTT	p.L868F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	868	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCCTCTTGTCCCGAGAGG	0.652		NA											39	15					2.25e-16	3.14e-16	1	0
ODF2L	57489	broad.mit.edu	37	1	86838147	86838148	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:86838147_86838148insT	uc001dll.1	-	9	1226_1227	c.886_887insA	c.(886-888)ACCfs	p.T296fs	ODF2L_uc001dlm.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.T165fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.T126fs|ODF2L_uc009wcr.1_Frame_Shift_Ins_p.T165fs	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	296	Potential.					centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCCAATTCGGTTTTTTCTATC	0.257		NA											2	4	---	---	---	---	NA	NA	NA	NA
MAPK8	5599	broad.mit.edu	37	10	49634078	49634079	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:49634078_49634079delTT	uc009xnz.2	+	8	1060_1061	c.836_837delTT	c.(835-837)CTTfs	p.L279fs	MAPK8_uc001jgl.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgm.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgo.2_Frame_Shift_Del_p.L279fs|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Frame_Shift_Del_p.L279fs|MAPK8_uc010qgk.1_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgp.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgq.2_Frame_Shift_Del_p.L279fs	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	279	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCTGATGTCCTTTTCCCAGCTG	0.386		NA											24	70	---	---	---	---	NA	NA	NA	NA
NUDT7	283927	broad.mit.edu	37	16	77775743	77775744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:77775743_77775744insA	uc010chd.2	+	4	682_683	c.613_614insA	c.(613-615)GAAfs	p.E205fs	NUDT7_uc010vnj.1_Frame_Shift_Ins_p.E152fs	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	205					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						TATCATTTTGGAAAAAAAACCC	0.381		NA											11	33	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577102	7577119	+	In_Frame_Del	DEL	CCAGGACAGGCACAAACA	CCAGGACAGGCACAAACA	-	rs17849781		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:7577102_7577119delCCAGGACAGGCACAAACA	uc002gim.2	-	8	1013_1030	c.819_836delTGTTTGTGCCTGTCCTGG	c.(817-837)CGTGTTTGTGCCTGTCCTGGG>CGG	p.VCACPG274del	TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.VCACPG274del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cng.1_In_Frame_Del_p.VCACPG142del|TP53_uc002gii.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cnh.1_In_Frame_Del_p.VCACPG274del|TP53_uc010cni.1_In_Frame_Del_p.VCACPG274del|TP53_uc002gij.2_In_Frame_Del_p.VCACPG274del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	274_279	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(52)|p.P278S(48)|p.C275Y(44)|p.C275F(34)|p.G279E(32)|p.P278R(26)|p.P278T(21)|p.C277F(20)|p.P278A(18)|p.V274F(17)|p.C277Y(15)|p.V274A(13)|p.A276P(13)|p.P278H(11)|p.A276S(9)|p.V274L(9)|p.R280fs*65(7)|p.V274D(7)|p.A276V(7)|p.G279R(7)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.A276T(7)|p.C277*(6)|p.V274G(6)|p.A276D(6)|p.C275R(6)|p.P278fs*67(5)|p.G279V(4)|p.C277G(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.C275fs*70(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(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)		CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA	0.541		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)			17	20	---	---	---	---	NA	NA	NA	NA
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs150114751	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:137880741_137880743delTCG	uc003erv.2	-	8	1759_1761	c.1623_1625delCGA	c.(1621-1626)GATGAT>GAT	p.541_542DD>D	DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	541_542						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTAAGCTGCATCGTCATCATCAT	0.251		NA											8	189	---	---	---	---	NA	NA	NA	NA
PHOX2B	8929	broad.mit.edu	37	4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-	rs17879189		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	uc003gwf.3	-	3	1116_1136	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)GCGGCGGCAGCGGCAGCGGCGGCA>GCA	p.252_259AAAAAAAA>A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252_259	Poly-Ala.		Missing.		positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.376		NA	Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				3	5	---	---	---	---	NA	NA	NA	NA
