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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
EIF2C1	26523	broad.mit.edu	37	1	36379798	36379798	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:36379798C>G	uc001bzl.2	+	14	1969	c.1756C>G	c.(1756-1758)CAA>GAA	p.Q586E	EIF2C1_uc001bzk.2_Missense_Mutation_p.Q511E|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	586	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCCGTTTTTCAACAGCCAGT	0.517		NaN											0	0	0	0.139131	0	122	33				
KIAA0467	23334	broad.mit.edu	37	1	43895747	43895747	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:43895747C>T	uc001cjk.1	+	15	2139	c.1677C>T	c.(1675-1677)TTC>TTT	p.F559F		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1458						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTACTTCTTCTATTGCCCTC	0.537		NaN											0	0	0	0.139131	0	145	52				
CTH	1491	broad.mit.edu	37	1	70897873	70897873	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:70897873C>G	uc001dfd.2	+	8	976	c.832C>G	c.(832-834)CAG>GAG	p.Q278E	CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.Q234E|CTH_uc010oqq.1_Missense_Mutation_p.Q246E	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	278					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGCAGTTGCCCAGTTCCTGGA	0.403		NaN											0	0	0	0.139131	0	67	23				
FPGT	8790	broad.mit.edu	37	1	74671227	74671227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:74671227C>A	uc001dgb.1	+	4	1533	c.1496C>A	c.(1495-1497)TCA>TAA	p.S499*	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Nonsense_Mutation_p.S124*|FPGT_uc010oqu.1_Nonsense_Mutation_p.S245*|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	499					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGTTTCCTGTCATGCTTAGAT	0.378		NaN											1	0	5.2432e-18	0.139131	5.66114e-18	49	57				
SLC35A3	23443	broad.mit.edu	37	1	100459152	100459152	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:100459152C>G	uc001dsp.1	+	2	239	c.42C>G	c.(40-42)GTC>GTG	p.V14V	SLC35A3_uc001dsq.1_Silent_p.V14V|SLC35A3_uc009wdy.1_Silent_p.V14V|SLC35A3_uc001dsr.1_Silent_p.V56V|SLC35A3_uc001dss.1_5'Flank	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	14	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GAATTTTGGTCTTTCAGACTA	0.358		NaN											0	0	0	0.009096	0	4	123				
MAN1A2	10905	broad.mit.edu	37	1	117944812	117944812	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:117944812G>C	uc001ehd.1	+	2	1028	c.307G>C	c.(307-309)GAG>CAG	p.E103Q	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	103	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCACAGGGAAGAGGAAGAACG	0.363		NaN											0	0	0	0.069456	0	32	26				
HRNR	388697	broad.mit.edu	37	1	152188199	152188199	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:152188199G>C	uc001ezt.1	-	3	5982	c.5906C>G	c.(5905-5907)TCT>TGT	p.S1969C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1969	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGCCAGACCCATATGG	0.617		NaN											0	0	0	0.074837	0	39	859				
OR6Y1	391112	broad.mit.edu	37	1	158516978	158516978	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:158516978G>A	uc010pil.1	-	1	918	c.918C>T	c.(916-918)CTC>CTT	p.L306L		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGGTCTTTCTGAGGGCTGCCT	0.438		NaN											0	0	0	0.099896	0	28	83				
DARS2	55157	broad.mit.edu	37	1	173795914	173795914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:173795914C>A	uc001gjh.1	+	2	627	c.217C>A	c.(217-219)CAG>AAG	p.Q73K	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	73					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	TGGATGGATTCAGTACCGAAG	0.423		NaN											1	0	6.27289e-28	0.139131	6.87251e-28	53	43				
FAM5B	57795	broad.mit.edu	37	1	177245564	177245564	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:177245564G>A	uc001glf.2	+	6	1318	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	FAM5B_uc010pna.1_Missense_Mutation_p.E86K|FAM5B_uc001glg.2_Missense_Mutation_p.E231K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	336						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCAGTTTGAAGAGTCAGGTGA	0.388		NaN											0	0	0	0.074837	0	36	37				
CRB1	23418	broad.mit.edu	37	1	197390534	197390534	+	Nonsense_Mutation	SNP	C	C	T	rs114342808	by1000genomes	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:197390534C>T	uc001gtz.2	+	6	1711	c.1576C>T	c.(1576-1578)CGA>TGA	p.R526*	CRB1_uc010poz.1_Nonsense_Mutation_p.R457*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R414*|CRB1_uc010ppb.1_Nonsense_Mutation_p.R526*|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R7*|CRB1_uc001gub.1_Nonsense_Mutation_p.R175*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	526	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTACTTTTCCGAAGCAACAG	0.453		NaN											0	0	0	0.139131	0	55	52				
KLHDC8A	55220	broad.mit.edu	37	1	205306715	205306715	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:205306715G>C	uc001hcf.1	-	6	1433	c.865C>G	c.(865-867)CAA>GAA	p.Q289E	KLHDC8A_uc010prg.1_Missense_Mutation_p.Q176E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.Q289E	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	289	Kelch 7.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGTGGGTTGATTCCCTGAA	0.587		NaN											0	0	0	0.125774	0	30	94				
SFMBT2	57713	broad.mit.edu	37	10	7205753	7205753	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:7205753G>C	uc009xio.1	-	21	2755	c.2664C>G	c.(2662-2664)TTC>TTG	p.F888L	SFMBT2_uc001ijn.1_Missense_Mutation_p.F888L|SFMBT2_uc010qay.1_Missense_Mutation_p.F723L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	888					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						ACTGGGCGTAGAAAGCCACTT	0.547		NaN											0	0	0	0.076483	0	23	70				
GAD2	2572	broad.mit.edu	37	10	26581833	26581833	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:26581833T>C	uc001isp.2	+	15	2000	c.1497T>C	c.(1495-1497)CCT>CCC	p.P499P	GAD2_uc001isq.2_Silent_p.P499P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	499					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CTTTGTAGCCTCAGCACACAA	0.448		NaN											0	0	0	0.139131	0	116	281				
ANUBL1	93550	broad.mit.edu	37	10	46121537	46121537	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:46121537G>T	uc001jcp.3	-	7	1976	c.1734C>A	c.(1732-1734)AGC>AGA	p.S578R	ANUBL1_uc001jcl.3_Missense_Mutation_p.S98R|ANUBL1_uc001jcm.3_Missense_Mutation_p.S578R|ANUBL1_uc009xmu.2_Missense_Mutation_p.S504R|ANUBL1_uc001jcn.3_Missense_Mutation_p.S504R|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	578							zinc ion binding				0						ATCTATTTCTGCTTGTGCTCC	0.468		NaN											1	0	0.00909568	0.009096	0.00937894	4	146				
RBP3	5949	broad.mit.edu	37	10	48382225	48382225	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:48382225G>C	uc001jez.2	-	4	3538	c.3424C>G	c.(3424-3426)CTG>GTG	p.L1142V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1142	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CTGCTGGTCAGAATGACCATG	0.592		NaN											0	0	0	0.043863	0	19	32				
PLCE1	51196	broad.mit.edu	37	10	96064271	96064271	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:96064271G>A	uc001kjk.2	+	25	6125	c.5491G>A	c.(5491-5493)GAG>AAG	p.E1831K	PLCE1_uc010qnx.1_Missense_Mutation_p.E1815K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1523K|PLCE1_uc001kjp.2_Missense_Mutation_p.E189K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1831	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGCAATGTTTGAGGCAAATGG	0.378		NaN											0	0	0	0.139131	0	72	136				
PKP3	11187	broad.mit.edu	37	11	397293	397293	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:397293C>T	uc001lpc.2	+	3	868	c.792C>T	c.(790-792)GGC>GGT	p.G264G		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	264					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGTAGGCGGGGCAGTGC	0.736		NaN											0	0	0	0.009096	0	4	2				
PGAP2	27315	broad.mit.edu	37	11	3845209	3845209	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:3845209C>T	uc001lys.2	+	4	571	c.445C>T	c.(445-447)CGC>TGC	p.R149C	PGAP2_uc001lyl.2_Missense_Mutation_p.R106C|PGAP2_uc010qxw.1_Missense_Mutation_p.R206C|PGAP2_uc010qxx.1_Missense_Mutation_p.S129L|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R145C|PGAP2_uc010qxz.1_Missense_Mutation_p.R145C|PGAP2_uc001lyn.3_Missense_Mutation_p.S41L|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R88C|PGAP2_uc010qyb.1_Missense_Mutation_p.S91L|PGAP2_uc001lyt.2_5'UTR	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	149					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CTCGGCGCCTCGCTTCTTGGT	0.642		NaN											0	0	0	0.069288	0	22	63				
NLRP14	338323	broad.mit.edu	37	11	7079046	7079046	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:7079046A>C	uc001mfb.1	+	7	2753	c.2430A>C	c.(2428-2430)TTA>TTC	p.L810F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	810					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGAGGCCTTAAGACATCCAA	0.393		NaN											0	0	0	0.099896	0	25	45				
WEE1	7465	broad.mit.edu	37	11	9608064	9608064	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:9608064T>C	uc001mhs.2	+	9	1792	c.1539T>C	c.(1537-1539)GCT>GCC	p.A513A	WEE1_uc001mht.2_Silent_p.A299A	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	513	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CTGCTGGTGCTGAACCTCTTC	0.398		NaN											0	0	0	0.009096	0	3	94				
QSER1	79832	broad.mit.edu	37	11	32956871	32956871	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:32956871C>G	uc001mty.2	+	4	3947	c.3680C>G	c.(3679-3681)TCT>TGT	p.S1227C	QSER1_uc001mtz.1_Missense_Mutation_p.S988C|QSER1_uc001mua.2_Missense_Mutation_p.S732C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1227										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GAACATTTATCTTCATTTTCT	0.363		NaN											0	0	0	0.139131	0	77	132				
OR5M8	219484	broad.mit.edu	37	11	56258184	56258184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56258184G>A	uc001nix.1	-	1	663	c.663C>T	c.(661-663)TTC>TTT	p.F221F		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AAATAGCAGGGAAAATGTAAA	0.408		NaN											0	0	0	0.0333	0	18	46				
OR5M10	390167	broad.mit.edu	37	11	56344512	56344512	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56344512C>A	uc001niz.1	-	1	686	c.686G>T	c.(685-687)CGT>CTT	p.R229L		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCAGCAGAACGGATCCTGAA	0.443		NaN											1	0	3.07281e-33	0.139131	3.41679e-33	61	49				
PC	5091	broad.mit.edu	37	11	66619974	66619974	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:66619974G>C	uc001ojn.1	-	13	1810	c.1761C>G	c.(1759-1761)CTC>CTG	p.L587L	PC_uc001ojo.1_Silent_p.L587L|PC_uc001ojp.1_Silent_p.L587L|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	587	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGATCTTTTTGAGATCGTGGG	0.612		NaN											0	0	0	0.139131	0	43	109				
SSH3	54961	broad.mit.edu	37	11	67075644	67075644	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:67075644G>T	uc001okj.2	+	9	1064	c.886_splice	c.e9-1	p.I296_splice	SSH3_uc001okk.2_Splice_Site|SSH3_uc001okl.2_Splice_Site_p.I150_splice	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGCCTGCAGATCCGCCAGG	0.647		NaN											1	0	1.15505e-17	0.11126	1.24261e-17	37	103				
RNF121	55298	broad.mit.edu	37	11	71698134	71698134	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:71698134C>T	uc001ora.2	+	5	823	c.483C>T	c.(481-483)CTC>CTT	p.L161L	RNF121_uc001ord.2_Silent_p.L80L|RNF121_uc001orb.2_Silent_p.L129L|RNF121_uc009yst.2_Silent_p.L129L	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	161	Helical; (Potential).					integral to membrane	zinc ion binding				0						TGTTTACCCTCTTTGGTCTTA	0.423		NaN											0	0	0	0.139131	0	56	94				
C11orf30	56946	broad.mit.edu	37	11	76257009	76257009	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:76257009G>C	uc001oxl.2	+	20	3585	c.3442G>C	c.(3442-3444)GAC>CAC	p.D1148H	C11orf30_uc001oxm.2_Missense_Mutation_p.D1050H|C11orf30_uc010rsb.1_Missense_Mutation_p.D1163H|C11orf30_uc010rsc.1_Missense_Mutation_p.D1149H|C11orf30_uc001oxn.2_Missense_Mutation_p.D1149H|C11orf30_uc010rsd.1_Missense_Mutation_p.D1057H|C11orf30_uc010rse.1_Missense_Mutation_p.D395H|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1148					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						AGCAGTGTCTGACATTTTGAA	0.438		NaN											0	0	0	0.083992	0	25	70				
PRSS23	11098	broad.mit.edu	37	11	86518961	86518961	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:86518961C>T	uc001pcb.2	+	2	492	c.276C>T	c.(274-276)GCC>GCT	p.A92A	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.A60A	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	92					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCTCTATGCCAATGGCAGCC	0.517		NaN											0	0	0	0.045705	0	17	34				
KDM4D	55693	broad.mit.edu	37	11	94731995	94731995	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:94731995G>A	uc001pfe.2	+	3	2291	c.1459G>A	c.(1459-1461)GAA>AAA	p.E487K		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	487					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCGGGCCCAGAACCTGAGCC	0.622		NaN											0	0	0	0.062417	0	23	53				
DDI1	414301	broad.mit.edu	37	11	103908030	103908030	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:103908030C>G	uc001phr.2	+	1	723	c.480C>G	c.(478-480)CTC>CTG	p.L160L	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	160					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGTCCCTGCTCAAGGAACGCA	0.622		NaN											0	0	0	0.0918	0	22	112				
GUCY1A2	2977	broad.mit.edu	37	11	106558469	106558469	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:106558469C>G	uc001pjg.1	-	8	2395	c.2005G>C	c.(2005-2007)GAA>CAA	p.E669Q	GUCY1A2_uc010rvo.1_Missense_Mutation_p.E690Q|GUCY1A2_uc009yxn.1_Missense_Mutation_p.E700Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	669					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AAACTTTCTTCTCGTTTTAAT	0.408		NaN											0	0	0	0.11126	0	41	57				
ROBO4	54538	broad.mit.edu	37	11	124757704	124757704	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:124757704G>A	uc001qbg.2	-	13	2121	c.1981C>T	c.(1981-1983)CGG>TGG	p.R661W	ROBO4_uc010sas.1_Missense_Mutation_p.R516W|ROBO4_uc001qbh.2_Missense_Mutation_p.R551W|ROBO4_uc001qbi.2_Missense_Mutation_p.R219W|ROBO4_uc010sat.1_Missense_Mutation_p.R219W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	661					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGCTGCCCCGGAGCAGTGGG	0.577		NaN											0	0	0	0.045705	0	29	23				
C12orf60	144608	broad.mit.edu	37	12	14976569	14976569	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:14976569A>G	uc001rcj.3	+	2	904	c.700A>G	c.(700-702)ATG>GTG	p.M234V		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	234										ovary(1)|central_nervous_system(1)	2						GACTATGGAAATGAATATTTC	0.358		NaN											0	0	0	0.0918	0	24	36				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:20523043G>A	uc001reh.1	+	1	847	c.825G>A	c.(823-825)CTG>CTA	p.L275L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627		NaN											0	0	0	0.124865	0	44	39				
COL2A1	1280	broad.mit.edu	37	12	48381056	48381056	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48381056G>T	uc001rqu.2	-	20	1443	c.1262C>A	c.(1261-1263)TCT>TAT	p.S421Y	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.S352Y	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	421	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTCACAGCAGATCCTTTGGC	0.557		NaN											1	0	1.99824e-07	0.0333	2.08938e-07	14	49				
COL2A1	1280	broad.mit.edu	37	12	48390378	48390378	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48390378C>G	uc001rqu.2	-	8	743	c.562G>C	c.(562-564)GAT>CAT	p.D188H	COL2A1_uc001rqv.2_Missense_Mutation_p.D119H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	188					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCTTTTCATCAAATCCTCCA	0.498		NaN											0	0	0	0.139131	0	118	413				
ZNF641	121274	broad.mit.edu	37	12	48739131	48739131	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48739131G>C	uc001rrn.1	-	4	610	c.445C>G	c.(445-447)CTG>GTG	p.L149V	ZNF641_uc001rro.1_Missense_Mutation_p.L135V|ZNF641_uc010sls.1_Intron	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.L149L(1)		ovary(1)|pancreas(1)	2						TGCTTACTCAGAGAGACTACT	0.502		NaN											0	0	0	0.146539	0	17	85				
MLL2	8085	broad.mit.edu	37	12	49416552	49416552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:49416552G>A	uc001rta.3	-	51	16159	c.16159C>T	c.(16159-16161)CAG>TAG	p.Q5387*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5387					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CGCCGGTACTGAGATGACTTG	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.139131	0	27	25		Valid		
DIP2B	57609	broad.mit.edu	37	12	51065079	51065079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51065079C>T	uc001rwv.2	+	5	694	c.538C>T	c.(538-540)CAG>TAG	p.Q180*	DIP2B_uc001rwu.2_Nonsense_Mutation_p.Q180*|DIP2B_uc009zls.1_Nonsense_Mutation_p.Q62*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	180	Ser-rich.					nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CCGTTCAATTCAGGGATCGTC	0.527		NaN											0	0	0	0.139131	0	82	71				
LETMD1	25875	broad.mit.edu	37	12	51451849	51451849	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51451849T>C	uc001rxm.2	+	8	1006	c.950T>C	c.(949-951)ATT>ACT	p.I317T	LETMD1_uc001rxl.2_Missense_Mutation_p.I261T|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.I330T|LETMD1_uc001rxn.2_Missense_Mutation_p.I160T|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.I200T|LETMD1_uc001rxq.2_Missense_Mutation_p.I193T|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Missense_Mutation_p.I57T	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	317	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TCTACGCATATTGGTGAAGAT	0.408		NaN											0	0	0	0.049695	0	19	68				
KRT78	196374	broad.mit.edu	37	12	53241751	53241751	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:53241751C>A	uc001sbc.1	-	2	603	c.539G>T	c.(538-540)CGA>CTA	p.R180L		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	180	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						CAGAGCCCCTCGTTCTCCCTG	0.607		NaN											1	0	3.6726e-16	0.0918	3.92271e-16	24	68				
GDF11	10220	broad.mit.edu	37	12	56142751	56142751	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:56142751C>T	uc001shq.2	+	2	864	c.827C>T	c.(826-828)CCG>CTG	p.P276L	GDF11_uc010spv.1_Missense_Mutation_p.P276L	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	276					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCCTGGGGCCGGGAGCCGAG	0.597		NaN											0	0	0	0.021553	0	5	23				
B4GALNT1	2583	broad.mit.edu	37	12	58021630	58021630	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:58021630C>T	uc001spg.1	-	10	1587	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	B4GALNT1_uc010sru.1_Silent_p.A330A	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711		NaN											0	0	0	0.009096	0	3	6				
IL26	55801	broad.mit.edu	37	12	68595841	68595841	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:68595841C>G	uc001stx.1	-	4	421	c.386G>C	c.(385-387)AGA>ACA	p.R129T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	129					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTCATCTCTCTAGCTGATGA	0.239		NaN											0	0	0	0.014758	0	5	13				
RAP1B	5908	broad.mit.edu	37	12	69042512	69042512	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69042512A>G	uc001sub.2	+	2	171	c.8A>G	c.(7-9)GAG>GGG	p.E3G	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E3G|RAP1B_uc010stf.1_Missense_Mutation_p.E3G|RAP1B_uc010stg.1_Missense_Mutation_p.E3G|RAP1B_uc010sth.1_Missense_Mutation_p.E3G|RAP1B_uc010sti.1_Missense_Mutation_p.E3G	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	3					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATCATGCGTGAGTATAAGCTA	0.373		NaN											0	0	0	0.139131	0	520	27				
NUP107	57122	broad.mit.edu	37	12	69109478	69109478	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69109478C>G	uc001suf.2	+	12	1156	c.1041C>G	c.(1039-1041)CTC>CTG	p.L347L	NUP107_uc001sug.2_Silent_p.L194L|NUP107_uc010stj.1_Silent_p.L318L	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	347					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGATTACTCAAATATCTCT	0.333		NaN											0	0	0	0.0333	0	17	894				
PTPRB	5787	broad.mit.edu	37	12	70932750	70932750	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:70932750G>C	uc001swb.3	-	25	5199	c.5169C>G	c.(5167-5169)CTC>CTG	p.L1723L	PTPRB_uc010sto.1_Silent_p.L1633L|PTPRB_uc010stp.1_Silent_p.L1633L|PTPRB_uc001swc.3_Silent_p.L1941L|PTPRB_uc001swa.3_Silent_p.L1853L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1723	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCCGGCAAGAGTGCAATGT	0.368		NaN											0	0	0	0.09319	0	13	23				
TSPAN8	7103	broad.mit.edu	37	12	71526475	71526475	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:71526475C>G	uc009zrt.1	-	6	736	c.574G>C	c.(574-576)GAG>CAG	p.E192Q	TSPAN8_uc001swk.1_Missense_Mutation_p.E192Q|TSPAN8_uc001swj.1_Missense_Mutation_p.E192Q	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	192	Extracellular (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTCTCACCTCTTTGTAAACT	0.343		NaN											0	0	0	0.054565	0	34	120				
ZFC3H1	196441	broad.mit.edu	37	12	72057372	72057372	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:72057372G>C	uc001swo.2	-	1	378	c.19C>G	c.(19-21)CCG>GCG	p.P7A	ZFC3H1_uc010sts.1_Missense_Mutation_p.P7A|ZFC3H1_uc001swp.2_Missense_Mutation_p.P7A|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	7					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCCGGGGCCGGAGTATCTGCG	0.602		NaN									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	98	96				
C12orf74	338809	broad.mit.edu	37	12	93100450	93100450	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100450G>C	uc001tch.1	+	2	273	c.43G>C	c.(43-45)GAC>CAC	p.D15H	C12orf74_uc001tci.2_Missense_Mutation_p.D15H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	15											0						GCCACCCCAAGACTGTGGAGC	0.557		NaN											0	0	0	0.0333	0	17	55				
C12orf74	338809	broad.mit.edu	37	12	93100519	93100519	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100519G>C	uc001tch.1	+	2	342	c.112G>C	c.(112-114)GAC>CAC	p.D38H	C12orf74_uc001tci.2_Missense_Mutation_p.D38H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	38											0						CCTCCAGTTTGACCGGCAAGC	0.622		NaN											0	0	0	0.116897	0	23	70				
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:109702924G>C	uc001tob.2	+	51	7071	c.6952G>C	c.(6952-6954)GAG>CAG	p.E2318Q	ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2318					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647		NaN											0	0	0	0.134883	0	30	150				
ATP2A2	488	broad.mit.edu	37	12	110720594	110720594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:110720594A>G	uc001tqk.3	+	3	776	c.213A>G	c.(211-213)ATA>ATG	p.I71M	ATP2A2_uc001tql.3_Missense_Mutation_p.I71M|ATP2A2_uc010sxy.1_Missense_Mutation_p.I71M	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	71	Lumenal (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						CAGCATGTATATCTTTTGTAA	0.328		NaN											0	0	0	0.055883	0	19	59				
CCDC63	160762	broad.mit.edu	37	12	111291361	111291361	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111291361G>T	uc001trv.1	+	3	357	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.Q14H|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	54	Potential.			RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580).						skin(6)|ovary(1)|pancreas(1)	8						GAAACCAGCAGAAGATTGCGA	0.512		NaN											1	0	7.03913e-09	0.09319	7.41223e-09	12	39				
CUX2	23316	broad.mit.edu	37	12	111655742	111655742	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111655742G>T	uc001tsa.1	+	3	375	c.222_splice	c.e3+1	p.E74_splice	CUX2_uc001tsb.1_Splice_Site_p.E129_splice	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCAAGCCGAGGTAAGACCCAG	0.562		NaN											1	0	8.81991e-31	0.139131	9.73457e-31	53	66				
NAA25	80018	broad.mit.edu	37	12	112477050	112477050	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112477050C>G	uc001ttm.2	-	22	2652	c.2632G>C	c.(2632-2634)GAA>CAA	p.E878Q	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E850Q|NAA25_uc009zwa.1_Missense_Mutation_p.E856Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	878						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ATGCTGGTTTCTTTTTTCTTC	0.348		NaN											0	0	0	0.146539	0	17	38				
C12orf51	283450	broad.mit.edu	37	12	112694164	112694164	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112694164C>G	uc009zwc.2	-	14	2009	c.1991G>C	c.(1990-1992)AGA>ACA	p.R664T	C12orf51_uc010syk.1_Missense_Mutation_p.R487T|C12orf51_uc001tts.2_Missense_Mutation_p.R487T|C12orf51_uc001ttt.3_Missense_Mutation_p.R485T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GCTATCAAATCTAAGGTACAG	0.443		NaN											0	0	0	0.134883	0	26	101				
VSIG10	54621	broad.mit.edu	37	12	118517226	118517226	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:118517226C>G	uc001tws.2	-	4	1184	c.850G>C	c.(850-852)GAT>CAT	p.D284H		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	284	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0						TTCTTGCCATCCGACAGCTGG	0.537		NaN											0	0	0	0.080935	0	12	72				
COQ5	84274	broad.mit.edu	37	12	120966898	120966898	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:120966898C>T	uc001tyn.2	-	1	67	c.47G>A	c.(46-48)GGG>GAG	p.G16E	COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Missense_Mutation_p.G16E	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	16					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGACCACCCACGGCCGCA	0.647		NaN											0	0	0	0.116897	0	27	25				
DNAH10	196385	broad.mit.edu	37	12	124298176	124298176	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124298176G>A	uc001uft.3	+	19	3281	c.3256G>A	c.(3256-3258)GAA>AAA	p.E1086K	DNAH10_uc010tav.1_Missense_Mutation_p.E628K|DNAH10_uc010taw.1_Missense_Mutation_p.E571K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1086	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATCTCCATGAAGAGATGGA	0.423		NaN											0	0	0	0.099896	0	26	66				
NCOR2	9612	broad.mit.edu	37	12	124957593	124957593	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124957593G>A	uc010tba.1	-	4	613	c.496C>T	c.(496-498)CGG>TGG	p.R166W	NCOR2_uc010tay.1_Missense_Mutation_p.R166W|NCOR2_uc010taz.1_Missense_Mutation_p.R166W|NCOR2_uc010tbb.1_Missense_Mutation_p.R166W|NCOR2_uc010tbc.1_Missense_Mutation_p.R166W|NCOR2_uc001ugj.1_Missense_Mutation_p.R166W|NCOR2_uc001ugk.1_Missense_Mutation_p.R166W	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	166					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGGACAGCCGTGGCGGCACC	0.602		NaN											0	0	0	0.0918	0	26	88		Valid		
TMEM132D	121256	broad.mit.edu	37	12	129559559	129559559	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:129559559T>G	uc009zyl.1	-	9	2489	c.2161A>C	c.(2161-2163)ACG>CCG	p.T721P	TMEM132D_uc001uia.2_Missense_Mutation_p.T259P	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	721	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)		TCCAAGGGCGTGACTGAGCCA	0.473		NaN											0	0	0	0.059317	0	31	100				
PSPC1	55269	broad.mit.edu	37	13	20315736	20315736	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:20315736C>G	uc001uml.2	-	5	1207	c.1021G>C	c.(1021-1023)GAG>CAG	p.E341Q	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	341	Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTTGCAACTCTTGGTTTCTG	0.328		NaN											0	0	0	0.108266	0	21	91				
FRY	10129	broad.mit.edu	37	13	32802752	32802752	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:32802752A>T	uc001utx.2	+	40	5862	c.5366A>T	c.(5365-5367)GAT>GTT	p.D1789V	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGAAACAGATGAGAAGGCA	0.512		NaN											0	0	0	0.139131	0	50	68				
LECT1	11061	broad.mit.edu	37	13	53282807	53282807	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:53282807C>T	uc001vhf.2	-	6	764	c.653G>A	c.(652-654)AGA>AAA	p.R218K	LECT1_uc001vhg.2_Missense_Mutation_p.R218K|LECT1_uc001vhh.2_Missense_Mutation_p.R207K	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	218					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AACAATTTTTCTTACCACTTC	0.393		NaN											0	0	0	0.069456	0	33	111				
PCDH9	5101	broad.mit.edu	37	13	67801771	67801771	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:67801771C>G	uc001vik.2	-	2	1494	c.802G>C	c.(802-804)GGT>CGT	p.G268R	PCDH9_uc001vil.2_Missense_Mutation_p.G268R|PCDH9_uc010thl.1_Missense_Mutation_p.G268R|PCDH9_uc001vin.3_Missense_Mutation_p.G268R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	268	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACAGAGGTACCTACGGGAGCA	0.483		NaN											0	0	0	0.139131	0	60	55				
MYH7	4625	broad.mit.edu	37	14	23885425	23885425	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:23885425C>T	uc001wjx.2	-	34	4847	c.4741G>A	c.(4741-4743)GAG>AAG	p.E1581K		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1581	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATCTCCTCGTCCTTCTCT	0.647		NaN											0	0	0	0.139131	0	51	368				
NIN	51199	broad.mit.edu	37	14	51225101	51225101	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:51225101C>G	uc001wym.2	-	18	2838	c.2647G>C	c.(2647-2649)GAG>CAG	p.E883Q	NIN_uc001wyi.2_Missense_Mutation_p.E883Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E889Q|NIN_uc001wyo.2_Missense_Mutation_p.E883Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	883	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTGTTTTCTCTCTCTTAAGA	0.502		NaN	T	PDGFRB	MPD								0	0	0	0.139131	0	94	36				
DHRS7	51635	broad.mit.edu	37	14	60620715	60620715	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:60620715C>T	uc001xes.2	-	3	539	c.355G>A	c.(355-357)GAA>AAA	p.E119K	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.E69K|DHRS7_uc001xeu.2_Missense_Mutation_p.E119K	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	119							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GTAGCCGCTTCATGGGAACCA	0.388		NaN											0	0	0	0.076483	0	20	97				
KCNH5	27133	broad.mit.edu	37	14	63246455	63246455	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:63246455C>G	uc001xfx.2	-	10	2061	c.2010G>C	c.(2008-2010)CTG>CTC	p.L670L	KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Silent_p.L612L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	670	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCGTTTCCTCAGATTGCAAG	0.393		NaN											0	0	0	0.139131	0	93	84				
C14orf4	64207	broad.mit.edu	37	14	77492242	77492242	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:77492242C>G	uc001xsy.2	-	1	2793	c.1894G>C	c.(1894-1896)GAT>CAT	p.D632H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	632						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CCCAGAGTATCTGCCACCGAC	0.632		NaN											0	0	0	0.080935	0	11	31				
SERPINA4	5267	broad.mit.edu	37	14	95033347	95033347	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:95033347C>G	uc001ydk.2	+	3	756	c.690C>G	c.(688-690)CCC>CCG	p.P230P	SERPINA4_uc010avd.2_Silent_p.P267P|SERPINA4_uc001ydl.2_Silent_p.P230P	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	230					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GGACCACTCCCAAAGACTTCT	0.507		NaN											0	0	0	0.038395	0	19	121				
EVL	51466	broad.mit.edu	37	14	100595958	100595958	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:100595958G>A	uc001ygt.2	+	7	1009	c.770G>A	c.(769-771)CGG>CAG	p.R257Q	EVL_uc001ygv.2_Missense_Mutation_p.R263Q|EVL_uc001ygu.2_Missense_Mutation_p.R259Q|EVL_uc010avu.2_Missense_Mutation_p.R116Q	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	257	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				GATGCCAACCGGGCAAGCAGC	0.587		NaN											0	0	0	0.131918	0	45	22				
OCA2	4948	broad.mit.edu	37	15	28211933	28211933	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:28211933G>A	uc001zbh.3	-	15	1649	c.1539C>T	c.(1537-1539)TTC>TTT	p.F513F	OCA2_uc010ayv.2_Silent_p.F489F	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	513	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAATCCCAATGAACATGTGTG	0.398		NaN							Oculocutaneous_Albinism				0	0	0	0.062417	0	22	19				
TJP1	7082	broad.mit.edu	37	15	30011184	30011184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:30011184G>A	uc001zcr.2	-	21	3637	c.3162C>T	c.(3160-3162)CTC>CTT	p.L1054L	TJP1_uc010azl.2_Silent_p.L1042L|TJP1_uc001zcq.2_Silent_p.L978L|TJP1_uc001zcs.2_Silent_p.L974L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1054					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGGGCTGCTCGAGGTCTCTGC	0.517		NaN											0	0	0	0.139131	0	124	422				
OTUD7A	161725	broad.mit.edu	37	15	31776455	31776455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:31776455C>T	uc001zfq.2	-	11	1916	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q	OTUD7A_uc001zfr.2_Missense_Mutation_p.R615Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	608						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCGTCGCCCCGCGGCCCACC	0.697		NaN											0	0	0	0.047766	0	8	14				
UNC13C	440279	broad.mit.edu	37	15	54919034	54919034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:54919034G>A	uc002ack.2	+	31	6368	c.6368G>A	c.(6367-6369)GGA>GAA	p.G2123E	UNC13C_uc002acm.2_Missense_Mutation_p.G44E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2123	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCATTCTCGGAAAGGAAAAT	0.284		NaN											0	0	0	0.038147	0	6	17				
SLTM	79811	broad.mit.edu	37	15	59179725	59179725	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:59179725A>T	uc002afp.2	-	18	2478	c.2390T>A	c.(2389-2391)GTT>GAT	p.V797D	SLTM_uc002afn.2_Missense_Mutation_p.V339D|SLTM_uc002afo.2_Missense_Mutation_p.V779D|SLTM_uc002afq.2_Missense_Mutation_p.V366D|SLTM_uc010bgd.2_Missense_Mutation_p.V366D	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	797	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						ACTTTGACCAACAAAGCGATC	0.403		NaN											0	0	0	0.092188	0	41	101				
CLN6	54982	broad.mit.edu	37	15	68504196	68504196	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:68504196G>A	uc002arf.2	-	4	461	c.303C>T	c.(301-303)ATC>ATT	p.I101I	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I133I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	101	Helical; (Potential).				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						GGGACCGCTCGATGAGCTGGG	0.612		NaN											0	0	0	0.055883	0	22	72				
TBC1D21	161514	broad.mit.edu	37	15	74180837	74180837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:74180837G>C	uc002avz.2	+	10	1044	c.961G>C	c.(961-963)GAG>CAG	p.E321Q	TBC1D21_uc010ulc.1_Missense_Mutation_p.E285Q	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	321						intracellular	Rab GTPase activator activity			ovary(2)	2						GGTTTATGCTGAGCTCATCCA	0.383		NaN											0	0	0	0.047766	0	8	52				
ZNF710	374655	broad.mit.edu	37	15	90622959	90622959	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:90622959C>T	uc002bov.1	+	5	2016	c.1893C>T	c.(1891-1893)TTC>TTT	p.F631F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGAGGACTTCGAGGAGAACG	0.582		NaN											0	0	0	0.117977	0	37	130				
FURIN	5045	broad.mit.edu	37	15	91421501	91421501	+	Silent	SNP	C	C	T	rs146865309		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:91421501C>T	uc002bpu.1	+	8	1023	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	269					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCCCGCCTCGCCGAGGAGG	0.642		NaN											0	0	0	0.038395	0	17	28				
AXIN1	8312	broad.mit.edu	37	16	347183	347183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:347183C>A	uc002cgp.1	-	7	2005	c.1828G>T	c.(1828-1830)GAG>TAG	p.E610*	AXIN1_uc002cgq.1_Nonsense_Mutation_p.E610*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	610	Interaction with RNF111.|Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TTCCCCGACTCAGCCTTCTTG	0.612		NaN											1	0	3.33393e-45	0.139131	3.72101e-45	88	308				
STUB1	10273	broad.mit.edu	37	16	731323	731323	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:731323G>C	uc002cit.2	+	2	742	c.331G>C	c.(331-333)GAT>CAT	p.D111H	STUB1_uc002ciu.2_Missense_Mutation_p.D39H|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	111	TPR 3.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GGAGAGCTATGATGAGGCCAT	0.667		NaN											0	0	0	0.038395	0	18	44				
STUB1	10273	broad.mit.edu	37	16	732373	732373	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:732373C>T	uc002cit.2	+	7	1207	c.796C>T	c.(796-798)CAT>TAT	p.H266Y	STUB1_uc002ciu.2_Missense_Mutation_p.H194Y|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	266	U-box.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GCGTGTGGGTCATTTTGACCC	0.612		NaN											0	0	0	0.139131	0	64	73				
XYLT1	64131	broad.mit.edu	37	16	17353054	17353054	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:17353054C>G	uc002dfa.2	-	3	789	c.704G>C	c.(703-705)AGA>ACA	p.R235T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	235	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						ATGAGGCGGTCTGGACACATC	0.612		NaN											0	0	0	0.139131	0	47	187				
TNRC6A	27327	broad.mit.edu	37	16	24815594	24815594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24815594A>G	uc002dmm.2	+	12	3905	c.3791A>G	c.(3790-3792)CAG>CGG	p.Q1264R	TNRC6A_uc010bxs.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q952R|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1264	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TCTCGGCCTCAGATTTCCAAA	0.393		NaN											0	0	0	0.09836	0	40	42				
ARHGAP17	55114	broad.mit.edu	37	16	24988548	24988548	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24988548G>A	uc002dnb.2	-	3	279	c.186C>T	c.(184-186)GCC>GCT	p.A62A	ARHGAP17_uc002dnc.2_Silent_p.A62A|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.A62A	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	62	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCCTCTCGGCATCGGTGC	0.547		NaN											0	0	0	0.058154	0	10	53				
XPO6	23214	broad.mit.edu	37	16	28137114	28137114	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:28137114C>G	uc002dpa.1	-	13	2163	c.1662G>C	c.(1660-1662)CTG>CTC	p.L554L	XPO6_uc002dpb.1_Silent_p.L540L|XPO6_uc010vcp.1_Silent_p.L554L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	554					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCAAGTCTCTCAGGGAGCAGT	0.592		NaN											0	0	0	0.139131	0	46	118				
TEPP	374739	broad.mit.edu	37	16	58019836	58019836	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:58019836C>A	uc002emw.3	+	7	813	c.776C>A	c.(775-777)TCC>TAC	p.S259Y	TEPP_uc002emv.3_Missense_Mutation_p.S286Y	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	259						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						AGCTTCGGCTCCAGCTACAGG	0.652		NaN											1	0	3.27435e-08	0.11911	3.43576e-08	11	33				
ACD	65057	broad.mit.edu	37	16	67691914	67691914	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:67691914C>T	uc002etq.3	-	10	1776	c.1439G>A	c.(1438-1440)GGA>GAA	p.G480E	ACD_uc002etp.3_Missense_Mutation_p.G477E|ACD_uc002etr.3_Missense_Mutation_p.G477E|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	480					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCCTGGGCTCCCCTGGTAGC	0.607		NaN											0	0	0	0.108266	0	25	85				
CIRH1A	84916	broad.mit.edu	37	16	69199280	69199280	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:69199280G>C	uc002ews.3	+	15	1780	c.1684G>C	c.(1684-1686)GAT>CAT	p.D562H	CIRH1A_uc002ewr.2_Missense_Mutation_p.D562H|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479H|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	562	WD 11.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACAGTATACAGATTGGAGCCG	0.488		NaN											0	0	0	0.069234	0	11	52				
SPAG7	9552	broad.mit.edu	37	17	4863785	4863785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:4863785G>A	uc002gae.2	-	3	244	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	SPAG7_uc002gad.2_Nonsense_Mutation_p.Q20*|SPAG7_uc002gaf.2_Nonsense_Mutation_p.Q71*	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	71	R3H.					nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						TTCATTGGCTGAAACTTTTTC	0.532		NaN											0	0	0	0.139131	0	59	67				
USP43	124739	broad.mit.edu	37	17	9559744	9559744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:9559744C>T	uc010cod.2	+	2	529	c.529C>T	c.(529-531)CAG>TAG	p.Q177*	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Nonsense_Mutation_p.Q177*|USP43_uc010coe.2_Silent_p.L8L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	177					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTACGGCTCTCAGTTCCAAGG	0.522		NaN											0	0	0	0.115264	0	3	15				
MYH1	4619	broad.mit.edu	37	17	10400658	10400658	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400658C>G	uc002gmo.2	-	32	4571	c.4477G>C	c.(4477-4479)GAG>CAG	p.E1493Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1493	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AAAGATTCCTCATAAGCATTC	0.343		NaN											0	0	0	0.062417	0	19	64				
MYH1	4619	broad.mit.edu	37	17	10400727	10400727	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400727C>G	uc002gmo.2	-	32	4502	c.4408G>C	c.(4408-4410)GAA>CAA	p.E1470Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1470	Potential.			E -> V (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCTTCAAGTTCAGCATGAGTT	0.378		NaN											0	0	0	0.080935	0	10	48				
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:27254016C>G	uc002hdg.1	-	3	844	c.314G>C	c.(313-315)CGC>CCC	p.R105P	PHF12_uc010wbb.1_Missense_Mutation_p.R87P|PHF12_uc002hdi.1_Missense_Mutation_p.R101P|PHF12_uc002hdj.1_Missense_Mutation_p.R105P|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101P|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	105	PHD-type 1.|Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493		NaN											0	0	0	0.038147	0	8	77				
WNK4	65266	broad.mit.edu	37	17	40936120	40936120	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:40936120C>T	uc002ibj.2	+	3	978	c.957C>T	c.(955-957)ATC>ATT	p.I319I	WNK4_uc010wgx.1_Missense_Mutation_p.S13L|WNK4_uc002ibk.1_Silent_p.I91I|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	319	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGTCAAAATCGGGGACCTGG	0.597		NaN											0	0	0	0.139131	0	64	202				
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:49713340A>G	uc002itw.3	-	7	1651	c.665T>C	c.(664-666)ATA>ACA	p.I222T	CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTTCCTCTATATTAAGCCC	0.368		NaN											0	0	0	0.045705	0	29	82				
HELZ	9931	broad.mit.edu	37	17	65119237	65119237	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65119237C>G	uc010wqk.1	-	26	3669	c.3482G>C	c.(3481-3483)AGA>ACA	p.R1161T	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1160T	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTATATGCTCTAATAGGATT	0.408		NaN											0	0	0	0.038395	0	18	45				
PSMD12	5718	broad.mit.edu	37	17	65340841	65340841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65340841C>A	uc002jfy.2	-	9	1050	c.964G>T	c.(964-966)GAG>TAG	p.E322*	PSMD12_uc002jga.2_Nonsense_Mutation_p.E302*|PSMD12_uc002jfz.2_Nonsense_Mutation_p.E263*	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	322	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CCATAGTCCTCAACAAGTGTG	0.363		NaN											1	0	4.7546e-09	0.146539	5.02437e-09	13	61				
ABCA8	10351	broad.mit.edu	37	17	66933153	66933153	+	Silent	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:66933153A>G	uc002jhp.2	-	4	584	c.405T>C	c.(403-405)TAT>TAC	p.Y135Y	ABCA8_uc002jhq.2_Silent_p.Y135Y|ABCA8_uc010wqq.1_Silent_p.Y135Y|ABCA8_uc010wqr.1_Silent_p.Y74Y|ABCA8_uc002jhr.2_Silent_p.Y135Y|ABCA8_uc002jhs.2_Silent_p.Y135Y|ABCA8_uc002jht.2_Silent_p.Y135Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	135						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACTTCAAATGATATGAGTATG	0.368		NaN											0	0	0	0.0918	0	25	55				
COG1	9382	broad.mit.edu	37	17	71197988	71197988	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:71197988C>T	uc002jjg.2	+	7	2058	c.2022C>T	c.(2020-2022)CTC>CTT	p.L674L	COG1_uc002jjh.2_Silent_p.L674L|COG1_uc002jjf.1_Silent_p.L674L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	674					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGAAGTACTCCTCCAGCAGA	0.463		NaN											0	0	0	0.0333	0	16	53				
DSG2	1829	broad.mit.edu	37	18	29101087	29101087	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:29101087G>A	uc002kwu.3	+	5	592	c.404G>A	c.(403-405)AGA>AAA	p.R135K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	135	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGGATGCAAGAGGAAACAAT	0.343		NaN											0	0	0	0.076483	0	23	67				
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:42530401G>A	uc010dni.2	+	4	1392	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	366						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453		NaN							Schinzel-Giedion_syndrome				0	0	0	0.055883	0	20	54				
MALT1	10892	broad.mit.edu	37	18	56390314	56390314	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:56390314G>T	uc002lhm.1	+	10	1311	c.1053G>T	c.(1051-1053)ATG>ATT	p.M351I	MALT1_uc002lhn.1_Missense_Mutation_p.M340I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	351	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TAGGAAATATGAATTACCGGG	0.398		NaN	T	BIRC3	MALT								1	0	3.62473e-10	0.062417	3.84402e-10	19	63				
MUM1	84939	broad.mit.edu	37	19	1357029	1357029	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:1357029T>G	uc010xgm.1	+	2	148	c.79T>G	c.(79-81)TCA>GCA	p.S27A	MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.S28A|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	27					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCGCGACTTCAACAAAAAA	0.358		NaN											0	0	0	0.062417	0	21	44				
AP3D1	8943	broad.mit.edu	37	19	2130435	2130435	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2130435C>T	uc002luz.2	-	6	787	c.564G>A	c.(562-564)CTG>CTA	p.L188L	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.L188L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	188	HEAT 4.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCCTTCAGCCGGGGAA	0.602		NaN											0	0	0	0.144211	0	32	75				
DOT1L	84444	broad.mit.edu	37	19	2216303	2216303	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216303G>A	uc002lvb.3	+	20	1983	c.1947G>A	c.(1945-1947)AAG>AAA	p.K649K	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	649						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTAGAGAAGAGCCAGCGGC	0.662		NaN											0	0	0	0.064281	0	32	69				
DOT1L	84444	broad.mit.edu	37	19	2216319	2216319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216319G>T	uc002lvb.3	+	20	1999	c.1963G>T	c.(1963-1965)GAG>TAG	p.E655*	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	655						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCAGGAGCTCCTGCA	0.672		NaN											1	0	1.64293e-13	0.083992	1.74855e-13	23	52		Valid		
JSRP1	126306	broad.mit.edu	37	19	2254207	2254207	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2254207C>G	uc002lvi.1	-	3	276	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	JSRP1_uc002lvj.1_Missense_Mutation_p.E81Q	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	81						sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGCCTCTCCTTCCCCGTT	0.637		NaN									OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	63	167				
DPP9	91039	broad.mit.edu	37	19	4690967	4690967	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:4690967C>G	uc002mba.2	-	14	1777	c.1519G>C	c.(1519-1521)GAA>CAA	p.E507Q		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	478					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CACTTAAATTCATCTGGAAAG	0.562		NaN											0	0	0	0.009096	0	4	13				
SAFB2	9667	broad.mit.edu	37	19	5591776	5591776	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:5591776C>G	uc002mcd.2	-	17	2589	c.2377G>C	c.(2377-2379)GAC>CAC	p.D793H		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	793	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCCGGTGGTCTCCCATCATT	0.592		NaN											0	0	0	0.105934	0	11	46				
MYO1F	4542	broad.mit.edu	37	19	8587680	8587680	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8587680C>G	uc002mkg.2	-	26	3002	c.2888G>C	c.(2887-2889)AGA>ACA	p.R963T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	963				VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GGGGCCCCCTCTGGCAGAGGG	0.652		NaN											0	0	0	0.009096	0	4	8				
ADAMTS10	81794	broad.mit.edu	37	19	8670203	8670203	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8670203G>T	uc002mkj.1	-	4	403	c.129C>A	c.(127-129)TTC>TTA	p.F43L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	43					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CGCGGGTGGGGAAGGCGATCT	0.677		NaN											1	0	0.000442599	0.058154	0.000457967	10	13				
TNPO2	30000	broad.mit.edu	37	19	12826060	12826060	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:12826060G>A	uc002muo.2	-	7	830	c.645C>T	c.(643-645)ATC>ATT	p.I215I	TNPO2_uc002mup.2_Silent_p.I307I|TNPO2_uc002muq.2_Silent_p.I215I|TNPO2_uc002mur.2_Silent_p.I215I	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	215	HEAT 3.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGCCCACCTCGATGAAGGTGT	0.642		NaN											0	0	0	0.02938	0	7	18				
ZNF569	148266	broad.mit.edu	37	19	37917250	37917250	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:37917250C>T	uc002ogi.2	-	4	604	c.46G>A	c.(46-48)GAC>AAC	p.D16N	ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Missense_Mutation_p.D40N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTGAAGTCGATAGCCACA	0.398		NaN											0	0	0	0.139131	0	59	110				
PRX	57716	broad.mit.edu	37	19	40900472	40900472	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40900472C>G	uc002onr.2	-	7	4056	c.3787G>C	c.(3787-3789)GAG>CAG	p.E1263Q	PRX_uc002onq.2_Missense_Mutation_p.E1124Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1263					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGCTGCTCCTCAGCACCC	0.706		NaN											0	0	0	0.058154	0	10	24				
PRX	57716	broad.mit.edu	37	19	40901150	40901150	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901150C>G	uc002onr.2	-	7	3378	c.3109G>C	c.(3109-3111)GAA>CAA	p.E1037Q	PRX_uc002onq.2_Missense_Mutation_p.E898Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1037					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGTTCTGCTGCCTCA	0.627		NaN											0	0	0	0.069288	0	22	140				
PRX	57716	broad.mit.edu	37	19	40901173	40901173	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901173C>G	uc002onr.2	-	7	3355	c.3086G>C	c.(3085-3087)AGA>ACA	p.R1029T	PRX_uc002onq.2_Missense_Mutation_p.R890T|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1029					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCCCGGCCTCTGACCCCAAA	0.637		NaN											0	0	0	0.134883	0	26	152				
PRX	57716	broad.mit.edu	37	19	40901264	40901264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901264C>G	uc002onr.2	-	7	3264	c.2995G>C	c.(2995-2997)GAT>CAT	p.D999H	PRX_uc002onq.2_Missense_Mutation_p.D860H|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	999					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGGGCATCCAGGCTGAGC	0.667		NaN											0	0	0	0.144211	0	29	139				
PRX	57716	broad.mit.edu	37	19	40901420	40901420	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901420C>T	uc002onr.2	-	7	3108	c.2839G>A	c.(2839-2841)GAG>AAG	p.E947K	PRX_uc002onq.2_Missense_Mutation_p.E808K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	947					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCAGCCTCTGCCTTAGCC	0.577		NaN											0	0	0	0.139131	0	51	239				
PRX	57716	broad.mit.edu	37	19	40901603	40901603	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901603C>G	uc002onr.2	-	7	2925	c.2656G>C	c.(2656-2658)GAG>CAG	p.E886Q	PRX_uc002onq.2_Missense_Mutation_p.E747Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	886					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCCACCTCAGGGCCCTCC	0.637		NaN											0	0	0	0.050027	0	13	114				
CEACAM21	90273	broad.mit.edu	37	19	42082676	42082676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:42082676G>A	uc002ore.3	+	1	146	c.50G>A	c.(49-51)GGG>GAG	p.G17E	CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.G17E	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion	17						integral to membrane				ovary(1)	1						CCCTGGCAGGGGCTCTTGCTC	0.652		NaN											0	0	0	0.047766	0	9	55				
ALDH16A1	126133	broad.mit.edu	37	19	49971800	49971800	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:49971800C>T	uc002pnt.2	+	15	2217	c.2101C>T	c.(2101-2103)CTG>TTG	p.L701L	ALDH16A1_uc010yar.1_Silent_p.L650L|ALDH16A1_uc010yas.1_Silent_p.L536L|ALDH16A1_uc010yat.1_Silent_p.L538L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	701							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGCCTGTCCTCTGCTGGCCCT	0.667		NaN											0	0	0	0.11911	0	14	274				
KLK14	43847	broad.mit.edu	37	19	51582812	51582812	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:51582812G>A	uc002pvs.1	-	5	627	c.408C>T	c.(406-408)CCC>CCT	p.P136P		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	136	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGATCCGTGCGGGCTGCTGTA	0.657		NaN											0	0	0	0.069234	0	8	48				
ZNF677	342926	broad.mit.edu	37	19	53741588	53741588	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:53741588C>T	uc002qbf.1	-	5	577	c.392G>A	c.(391-393)AGA>AAA	p.R131K	ZNF677_uc002qbg.1_Missense_Mutation_p.R131K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358		NaN											0	0	0	0.117977	0	43	115				
PRKCG	5582	broad.mit.edu	37	19	54403944	54403944	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54403944G>A	uc002qcq.1	+	14	1798	c.1516G>A	c.(1516-1518)GTC>ATC	p.V506I	PRKCG_uc010yeg.1_Missense_Mutation_p.V506I|PRKCG_uc010yeh.1_Missense_Mutation_p.V393I	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	506	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TAAGGAGAACGTCTTCCCCGG	0.587		NaN											0	0	0	0.139131	0	435	273				
CNOT3	4849	broad.mit.edu	37	19	54656169	54656169	+	Silent	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54656169C>A	uc002qdj.1	+	15	2021	c.1710C>A	c.(1708-1710)ATC>ATA	p.I570I	CNOT3_uc010yel.1_Silent_p.I570I|CNOT3_uc002qdi.2_Silent_p.I483I|CNOT3_uc002qdk.1_Silent_p.I570I|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.I25I	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	570	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACAGACATCATCCTGAGCA	0.667		NaN											1	0	5.99346e-17	0.139131	6.42464e-17	54	305				
ZNF671	79891	broad.mit.edu	37	19	58232870	58232870	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:58232870C>T	uc002qpz.3	-	4	683	c.584G>A	c.(583-585)GGG>GAG	p.G195E	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.G118E|ZNF671_uc010yhf.1_Missense_Mutation_p.G97E	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	195	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCACATGCCCCACACAAGTA	0.488		NaN											0	0	0	0.139131	0	57	209				
SNTG2	54221	broad.mit.edu	37	2	1241711	1241711	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1241711C>T	uc002qwq.2	+	10	899	c.771C>T	c.(769-771)CTC>CTT	p.L257L	SNTG2_uc010ewi.2_Silent_p.L130L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	257					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGGGATCCTCCGGTTTTACA	0.642		NaN											0	0	0	0.02938	0	6	8				
TPO	7173	broad.mit.edu	37	2	1520688	1520688	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1520688C>T	uc002qww.2	+	15	2643	c.2552C>T	c.(2551-2553)TCC>TTC	p.S851F	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.S794F|TPO_uc002qwr.2_Missense_Mutation_p.S851F|TPO_uc002qwx.2_Missense_Mutation_p.S794F|TPO_uc010yio.1_Missense_Mutation_p.S678F|TPO_uc010yip.1_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	851	Helical; (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGGATCTCCATGTCGCTG	0.572		NaN											0	0	0	0.074837	0	35	73				
TRIM54	57159	broad.mit.edu	37	2	27505677	27505677	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:27505677C>T	uc002rjo.2	+	1	78	c.78C>T	c.(76-78)TGC>TGT	p.C26C	TRIM54_uc002rjn.2_Silent_p.C26C	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	26	RING-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCATCTGCCCCATCTGCC	0.587		NaN											0	0	0	0.139131	0	72	360				
PSME4	23198	broad.mit.edu	37	2	54159084	54159084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:54159084G>A	uc002rxp.2	-	10	1260	c.1204C>T	c.(1204-1206)CAG>TAG	p.Q402*	PSME4_uc010yop.1_Nonsense_Mutation_p.Q288*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	402					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGACAGGCTGAATAATGCAT	0.453		NaN											0	0	0	0.117977	0	44	57				
REG3G	130120	broad.mit.edu	37	2	79254983	79254983	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:79254983G>A	uc002snw.2	+	5	469	c.384G>A	c.(382-384)ATG>ATA	p.M128I	REG3G_uc002snx.2_Missense_Mutation_p.M128I|REG3G_uc010ffu.2_Missense_Mutation_p.M82I	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	128	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						CTGATGTGATGAATTACTTTG	0.502		NaN											0	0	0	0.117977	0	45	174				
FER1L5	90342	broad.mit.edu	37	2	97361264	97361264	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:97361264C>T	uc010fia.2	+	34	3841	c.3841C>T	c.(3841-3843)CGG>TGG	p.R1281W	FER1L5_uc002sws.3_5'UTR|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_5'UTR|FER1L5_uc010yus.1_5'UTR	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1281						integral to membrane				ovary(1)	1						CTGGGGCCTTCGGAACATGAA	0.602		NaN											0	0	0	0.047766	0	8	8				
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:105858505G>A	uc002tco.1	+	1	306	c.190G>A	c.(190-192)GCT>ACT	p.A64T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCAGAGGCCGGCTATGCGCTC	0.617		NaN											0	0	0	0.139131	0	110	46				
ST6GAL2	84620	broad.mit.edu	37	2	107460193	107460193	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:107460193G>C	uc002tdq.2	-	2	360	c.241C>G	c.(241-243)CCC>GCC	p.P81A	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P81A|ST6GAL2_uc002tds.3_Missense_Mutation_p.P81A	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	81	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TGGGCGCGGGGCAGCGCCTGG	0.657		NaN											0	0	0	0.125774	0	27	72				
HNMT	3176	broad.mit.edu	37	2	138771674	138771674	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:138771674C>G	uc002tvc.2	+	7	1001	c.853C>G	c.(853-855)CTG>GTG	p.L285V	HNMT_uc002tvf.2_Missense_Mutation_p.L285V	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	285					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TAATAATACTCTGAGTTTCAT	0.343		NaN											0	0	0	0.049695	0	19	112				
LRP1B	53353	broad.mit.edu	37	2	141598563	141598563	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:141598563G>A	uc002tvj.1	-	30	6010	c.5038C>T	c.(5038-5040)CTA>TTA	p.L1680L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1680	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCTAGCCTTGCCACA	0.398		NaN								TSP Lung(27;0.18)			0	0	0	0.131918	0	48	62				
KCNH7	90134	broad.mit.edu	37	2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:163302755C>G	uc002uch.1	-	7	1539	c.1327G>C	c.(1327-1329)GAA>CAA	p.E443Q	KCNH7_uc002uci.2_Missense_Mutation_p.E436Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	443	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TAGCCACATTCTCGTCTTTTC	0.378		NaN											0	0	0	0.108266	0	28	39				
NFE2L2	4780	broad.mit.edu	37	2	178095734	178095734	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:178095734T>G	uc002ulh.3	-	5	2152	c.1597A>C	c.(1597-1599)AAA>CAA	p.K533Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.K517Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.K510Q|NFE2L2_uc002uli.3_Missense_Mutation_p.K517Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	533	Leucine-zipper.				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)			TTTTCATCTTTCAAATGATCT	0.343		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.139131	0	101	103		Valid		
TTN	7273	broad.mit.edu	37	2	179482509	179482509	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:179482509T>C	uc010zfg.1	-	202	40089	c.39865A>G	c.(39865-39867)ATT>GTT	p.I13289V	TTN_uc010zfh.1_Missense_Mutation_p.I6984V|TTN_uc010zfi.1_Missense_Mutation_p.I6917V|TTN_uc010zfj.1_Missense_Mutation_p.I6792V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14216							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)			GGCTTACCAATTGGATCAGCA	0.378		NaN											0	0	0	0.062417	0	17	68				
CASP8	841	broad.mit.edu	37	2	202141587	202141587	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:202141587G>A	uc002uxr.1	+	8	907	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CASP8_uc002uxo.1_Silent_p.S211S|CASP8_uc002uxp.1_Missense_Mutation_p.R250Q|CASP8_uc002uxq.1_Missense_Mutation_p.R218Q|CASP8_uc002uxt.1_Missense_Mutation_p.R292Q|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R218Q|CASP8_uc002uxw.1_Missense_Mutation_p.R218Q|CASP8_uc002uxy.1_Missense_Mutation_p.R233Q|CASP8_uc002uxx.1_Missense_Mutation_p.R218Q|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Silent_p.S93S	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGCAAACCTCGGGGATACTGT	0.428		NaN								HNSCC(4;0.00038)			0	0	0	0.134883	0	26	21				
PLCD4	84812	broad.mit.edu	37	2	219501002	219501002	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219501002G>A	uc002vij.1	+	15	2264	c.2069G>A	c.(2068-2070)CGG>CAG	p.R690Q		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	690	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTATGTTTCCGGGTGCTGGTG	0.448		NaN											0	0	0	0.139131	0	168	183				
KIF1A	547	broad.mit.edu	37	2	241702670	241702670	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:241702670G>A	uc002vzy.2	-	20	1981	c.1835C>T	c.(1834-1836)ACG>ATG	p.T612M	KIF1A_uc010fzk.2_Missense_Mutation_p.T621M|KIF1A_uc002vzz.1_Missense_Mutation_p.T621M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	612					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCAGCTGGCGTCTCCGCACA	0.642		NaN											0	0	0	0.021553	0	6	11				
NSFL1C	55968	broad.mit.edu	37	20	1433180	1433180	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:1433180C>T	uc002wfc.2	-	7	1691	c.743G>A	c.(742-744)GGA>GAA	p.G248E	NSFL1C_uc002wfd.2_Missense_Mutation_p.G137E|NSFL1C_uc002wfe.2_Missense_Mutation_p.G217E|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.G14E	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	248						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						TTTGAAGGCTCCTTTGGGCTT	0.577		NaN											0	0	0	0.139131	0	146	330				
TASP1	55617	broad.mit.edu	37	20	13463978	13463978	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:13463978C>G	uc002woi.2	-	11	998	c.881G>C	c.(880-882)GGA>GCA	p.G294A	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G271A|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	294					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						AAGATGCTCTCCACATCCTAG	0.433		NaN											0	0	0	0.139131	0	59	154				
SLC32A1	140679	broad.mit.edu	37	20	37353313	37353313	+	Translation_Start_Site	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:37353313C>G	uc002xjc.2	+	1	209	c.-54C>G	c.(-56--52)ATCGC>ATGGC			NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1						neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTGCATCGCGTTCCCCG	0.692		NaN											0	0	0	0.038147	0	8	57				
NCOA5	57727	broad.mit.edu	37	20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44699006G>A	uc002xrd.2	-	2	736	c.208C>T	c.(208-210)CGG>TGG	p.R70W	NCOA5_uc002xrc.2_5'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.R70W	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562		NaN											0	0	0	0.021553	0	6	330				
CDH22	64405	broad.mit.edu	37	20	44841804	44841804	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44841804C>G	uc002xrm.2	-	5	1263	c.862G>C	c.(862-864)GAG>CAG	p.E288Q	CDH22_uc010ghk.1_Missense_Mutation_p.E288Q|CDH22_uc002xrn.1_Missense_Mutation_p.E39Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	288	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGGGCTGACTCCTGGATGCTG	0.597		NaN											0	0	0	0.139131	0	52	67				
KCNG1	3755	broad.mit.edu	37	20	49626376	49626376	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:49626376C>T	uc002xwa.3	-	2	795	c.500G>A	c.(499-501)CGC>CAC	p.R167H	KCNG1_uc002xwb.2_Missense_Mutation_p.R167H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	167	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGGTAGCGGCGCTTGCAGCA	0.687		NaN											0	0	0	0.134883	0	28	150				
BCAS1	8537	broad.mit.edu	37	20	52645197	52645197	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:52645197T>A	uc002xws.2	-	4	795	c.457A>T	c.(457-459)ACC>TCC	p.T153S	BCAS1_uc010zzb.1_Missense_Mutation_p.T56S|BCAS1_uc010gim.2_Missense_Mutation_p.T56S|BCAS1_uc002xwt.2_Missense_Mutation_p.T153S|BCAS1_uc010gil.1_Missense_Mutation_p.T153S|BCAS1_uc010zzc.1_Missense_Mutation_p.T56S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	153						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCCCTGGGGTTTTATCTGTG	0.612		NaN											0	0	0	0.139131	0	104	121				
ADAMTS1	9510	broad.mit.edu	37	21	28214229	28214229	+	Silent	SNP	G	G	A	rs141975781		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:28214229G>A	uc002ymf.2	-	3	1613	c.1158C>T	c.(1156-1158)TCC>TCT	p.S386S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	386	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CTTCTATGACGGAGCAGCTTC	0.438		NaN											0	0	0	0.069456	0	38	84				
TFF2	7032	broad.mit.edu	37	21	43767668	43767668	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:43767668G>A	uc002zaw.2	-	3	445	c.303C>T	c.(301-303)TGC>TGT	p.C101C		NM_005423	NP_005414	Q03403	TFF2_HUMAN	trefoil factor 2 precursor	101	P-type 2.				digestion	extracellular region				pancreas(1)	1						TCCGAGAGGCGCATTCCTCGG	0.577		NaN											0	0	0	0.058154	0	10	51				
MYO18B	84700	broad.mit.edu	37	22	26286747	26286747	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:26286747G>A	uc003abz.1	+	26	4589	c.4339G>A	c.(4339-4341)GCC>ACC	p.A1447T	MYO18B_uc003aca.1_Missense_Mutation_p.A1328T|MYO18B_uc010guy.1_Missense_Mutation_p.A1329T|MYO18B_uc010guz.1_Missense_Mutation_p.A1328T|MYO18B_uc011aka.1_Missense_Mutation_p.A601T|MYO18B_uc011akb.1_Missense_Mutation_p.A960T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1447	Potential.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CTCTGACCTTGCCGATGAGCG	0.592		NaN											0	0	0	0.139131	0	65	24				
SF3A1	10291	broad.mit.edu	37	22	30748978	30748978	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:30748978G>C	uc003ahl.2	-	2	279	c.147C>G	c.(145-147)GTC>GTG	p.V49V		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	49					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						CAATATTTCTGACCTCTGGAG	0.478		NaN											0	0	0	0.116897	0	29	172				
CSNK1E	1454	broad.mit.edu	37	22	38698909	38698909	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:38698909C>T	uc003avj.2	-	4	554	c.293G>A	c.(292-294)CGC>CAC	p.R98H	CSNK1E_uc003avk.2_Missense_Mutation_p.R98H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R98H|CSNK1E_uc003avo.2_Missense_Mutation_p.R98H|CSNK1E_uc003avp.1_Missense_Mutation_p.R98H|CSNK1E_uc003avq.1_Missense_Mutation_p.R98H|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	98	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GCTGAATTTGCGGGAACAGAA	0.612		NaN											0	0	0	0.021553	0	5	205				
CELSR1	9620	broad.mit.edu	37	22	46792543	46792543	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:46792543G>A	uc003bhw.1	-	13	5802	c.5802C>T	c.(5800-5802)TGC>TGT	p.C1934C	CELSR1_uc011arc.1_Silent_p.C255C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1934	Extracellular (Potential).|EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCCACACTCGCACACGTAGC	0.622		NaN											0	0	0	0.02938	0	7	20				
GRM7	2917	broad.mit.edu	37	3	6903515	6903515	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:6903515C>T	uc003bqm.2	+	1	714	c.440C>T	c.(439-441)CCG>CTG	p.P147L	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P147L|GRM7_uc003bql.2_Missense_Mutation_p.P147L	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	147	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTCGTCAAGCCGGAGAAAGTA	0.597		NaN											0	0	0	0.0918	0	23	70				
VILL	50853	broad.mit.edu	37	3	38039653	38039653	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:38039653G>A	uc003chj.2	+	8	1123	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	VILL_uc003chk.1_Silent_p.Q279Q|VILL_uc003chl.2_Silent_p.Q279Q|VILL_uc010hgu.2_Silent_p.Q109Q	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	279	Gelsolin-like 3.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTGCTGCAGGAGGAGGTGA	0.642		NaN											0	0	0	0.069234	0	11	35				
SLC6A20	54716	broad.mit.edu	37	3	45811793	45811793	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:45811793C>T	uc011bai.1	-	7	1130	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M	SLC6A20_uc003cow.2_Translation_Start_Site|SLC6A20_uc011baj.1_Missense_Mutation_p.V299M	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	336	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGCCCTTCACCTGCTCCAGG	0.517		NaN											0	0	0	0.11911	0	15	61				
SMARCC1	6599	broad.mit.edu	37	3	47752241	47752241	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:47752241C>T	uc003crq.2	-	9	968	c.850G>A	c.(850-852)GAT>AAT	p.D284N	SMARCC1_uc011bbd.1_Missense_Mutation_p.D175N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	284					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACCTCATAATCCTCCTCATTC	0.343		NaN											0	0	0	0.064281	0	33	89		Valid		
RNF123	63891	broad.mit.edu	37	3	49757948	49757948	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:49757948G>C	uc003cxh.2	+	36	3591	c.3505G>C	c.(3505-3507)GAG>CAG	p.E1169Q	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1169						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGGAGAGAGCAAGCCAC	0.577		NaN											0	0	0	0.11911	0	14	56				
CACNA1D	776	broad.mit.edu	37	3	53766966	53766966	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:53766966C>G	uc003dgv.3	+	19	2761	c.2598C>G	c.(2596-2598)TTC>TTG	p.F866L	CACNA1D_uc003dgu.3_Missense_Mutation_p.F886L|CACNA1D_uc003dgy.3_Missense_Mutation_p.F866L|CACNA1D_uc003dgw.3_Missense_Mutation_p.F533L|CACNA1D_uc003dgx.1_Missense_Mutation_p.F14L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	866	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAGCGCTTTCTTCATTCTTA	0.527		NaN											0	0	0	0.080422	0	38	37				
SLC25A26	115286	broad.mit.edu	37	3	66293723	66293723	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:66293723C>T	uc011bfq.1	+	4	1015	c.287C>T	c.(286-288)TCT>TTT	p.S96F	SLC25A26_uc011bfs.1_Missense_Mutation_p.S8F|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.S96F|SLC25A26_uc003dmt.2_Missense_Mutation_p.S8F	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	96	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTGGCTGCCTCTGCTGGAGAA	0.313		NaN											0	0	0	0.09836	0	37	104				
IFT122	55764	broad.mit.edu	37	3	129195257	129195257	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:129195257C>G	uc003emm.2	+	10	1122	c.916C>G	c.(916-918)CTT>GTT	p.L306V	IFT122_uc003eml.2_Missense_Mutation_p.L357V|IFT122_uc003emn.2_Missense_Mutation_p.L247V|IFT122_uc003emo.2_Missense_Mutation_p.L195V|IFT122_uc003emp.2_Missense_Mutation_p.L156V|IFT122_uc010htc.2_Missense_Mutation_p.L298V|IFT122_uc011bky.1_Missense_Mutation_p.L97V|IFT122_uc003emq.2_Missense_Mutation_p.L146V|IFT122_uc003emr.2_Missense_Mutation_p.L97V|IFT122_uc011bla.1_Missense_Mutation_p.L97V|IFT122_uc011bkx.1_Missense_Mutation_p.L146V|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	306	WD 5.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GCAAGTATCTCTTTTCACCAA	0.507		NaN											0	0	0	0.139131	0	72	71				
IGSF10	285313	broad.mit.edu	37	3	151163672	151163672	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:151163672G>C	uc011bod.1	-	4	4097	c.4097C>G	c.(4096-4098)TCT>TGT	p.S1366C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1366					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGAAGCCAGAACTCTGGTC	0.478		NaN											0	0	0	0.139131	0	62	221				
NMD3	51068	broad.mit.edu	37	3	160942825	160942825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:160942825C>A	uc003feb.1	+	3	271	c.152C>A	c.(151-153)TCG>TAG	p.S51*	NMD3_uc003fec.2_Nonsense_Mutation_p.S51*|NMD3_uc003fed.1_Nonsense_Mutation_p.S51*	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	51					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAACAAGTCTCGATTTCGTTC	0.413		NaN											1	0	7.50695e-29	0.139131	8.25488e-29	55	128				
PPP1R2	5504	broad.mit.edu	37	3	195245954	195245954	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:195245954C>A	uc003fup.2	-	5	808	c.432G>T	c.(430-432)AGG>AGT	p.R144S		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	144					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		AGTGAAGCTTCCTTTTCATTT	0.284		NaN											1	0	1.22102e-19	0.139131	1.32797e-19	51	59				
RPL35A	6165	broad.mit.edu	37	3	197678160	197678160	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:197678160G>A	uc003fyr.2	+	3	215	c.142G>A	c.(142-144)GCT>ACT	p.A48T	IQCG_uc003fyp.2_Intron|IQCG_uc003fyo.2_5'Flank|IQCG_uc003fyq.3_5'Flank|RPL35A_uc003fys.2_Missense_Mutation_p.A48T	NM_000996	NP_000987	P18077	RL35A_HUMAN	ribosomal protein L35a	48					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		CAAGAGATGCGCTTATGTATA	0.358		NaN											0	0	0	0.050027	0	29	85				
PDE6B	5158	broad.mit.edu	37	4	656971	656971	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:656971G>A	uc003gap.2	+	15	1968	c.1915G>A	c.(1915-1917)GAG>AAG	p.E639K	PDE6B_uc003gao.3_Missense_Mutation_p.E639K|PDE6B_uc011buy.1_Missense_Mutation_p.E360K|PDE6B_uc011buz.1_Missense_Mutation_p.E71K	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	639					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CCTGCTCTCGGAGGAGGTTGG	0.622		NaN											0	0	0	0.074837	0	35	74				
TACC3	10460	broad.mit.edu	37	4	1733001	1733001	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1733001G>C	uc003gdo.2	+	6	1672	c.1564G>C	c.(1564-1566)GAG>CAG	p.E522Q	TACC3_uc010ibz.2_Missense_Mutation_p.E522Q|TACC3_uc003gdp.2_Missense_Mutation_p.E162Q|TACC3_uc010ica.2_5'UTR	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	522						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGCTGAAAGAGGAGAGCTT	0.627		NaN											0	0	0	0.139131	0	58	115				
LETM1	3954	broad.mit.edu	37	4	1843344	1843344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1843344C>T	uc003gdv.2	-	3	621	c.324G>A	c.(322-324)TGG>TGA	p.W108*	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Nonsense_Mutation_p.W108*	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	108					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGAAGAGTGCCAGCCACGCA	0.587		NaN											0	0	0	0.009096	0	4	122				
LDB2	9079	broad.mit.edu	37	4	16900009	16900009	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:16900009C>T	uc003goz.2	-	1	416	c.100G>A	c.(100-102)GAG>AAG	p.E34K	LDB2_uc003gpa.2_Missense_Mutation_p.E34K|LDB2_uc003gpb.2_Missense_Mutation_p.E34K|LDB2_uc011bxh.1_Missense_Mutation_p.E34K|LDB2_uc010iee.2_Missense_Mutation_p.E34K	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	34							LIM domain binding|transcription cofactor activity				0						TTGTTCATCTCATAGATTCGG	0.453		NaN											0	0	0	0.139131	0	68	76				
SOD3	6649	broad.mit.edu	37	4	24801248	24801248	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:24801248C>T	uc003gqz.2	+	2	310	c.105C>T	c.(103-105)ATC>ATT	p.I35I	SOD3_uc003gqy.1_RNA	NM_003102	NP_003093	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular precursor	35					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding				0		Breast(46;0.0503)				CGGAGTGGATCCGAGACATGT	0.697		NaN											0	0	0	0.115264	0	3	9				
PDGFRA	5156	broad.mit.edu	37	4	55139810	55139810	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:55139810G>A	uc003han.3	+	10	1802	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.A385T|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	491	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGTGACTTTCGCCAAAGTGGA	0.532		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.0918	0	26	131				
AASDH	132949	broad.mit.edu	37	4	57250456	57250456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:57250456G>A	uc003hbn.2	-	2	163	c.10C>T	c.(10-12)CAG>TAG	p.Q4*	AASDH_uc010ihb.2_5'Flank|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Intron|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbp.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbq.1_Nonsense_Mutation_p.Q4*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	4					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCAATTCCTGAAGAGTCATT	0.418		NaN											0	0	0	0.080422	0	39	76				
ALB	213	broad.mit.edu	37	4	74285275	74285275	+	Silent	SNP	G	G	A	rs11538206		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:74285275G>A	uc003hgs.3	+	13	1777	c.1704G>A	c.(1702-1704)CTG>CTA	p.L568L	ALB_uc003hgw.3_Silent_p.L376L|ALB_uc011cbe.1_Silent_p.L247L|ALB_uc003hgt.3_Silent_p.L568L|ALB_uc010iii.2_Silent_p.L453L|ALB_uc003hgu.3_Silent_p.L418L|ALB_uc003hgv.3_Silent_p.L247L|ALB_uc011cbf.1_Silent_p.L458L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.L247L	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	568	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAGCAACTGAAAGCTGTTA	0.413		NaN											0	0	0	0.099896	0	28	104				
G3BP2	9908	broad.mit.edu	37	4	76570708	76570708	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76570708C>G	uc003hir.2	-	12	1520	c.1355G>C	c.(1354-1356)AGA>ACA	p.R452T	G3BP2_uc003his.2_Missense_Mutation_p.R452T|G3BP2_uc003hit.2_Missense_Mutation_p.R419T	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	452	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGAGGTCCTCTTCCATCACG	0.582		NaN											0	0	0	0.069288	0	23	109				
PPEF2	5470	broad.mit.edu	37	4	76781888	76781888	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76781888C>T	uc003hix.2	-	17	2551	c.2194G>A	c.(2194-2196)GAT>AAT	p.D732N	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	732					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)			TCTGAGGCATCGCCCTCTGGG	0.512		NaN											0	0	0	0.069288	0	22	64				
PTPN13	5783	broad.mit.edu	37	4	87735669	87735669	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:87735669G>C	uc003hpz.2	+	48	7903	c.7423G>C	c.(7423-7425)GAA>CAA	p.E2475Q	PTPN13_uc003hpy.2_Missense_Mutation_p.E2480Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2456Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2284Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2475						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGCAGAAGAAGAGCAAAA	0.408		NaN											0	0	0	0.132662	0	14	29				
PPM1K	152926	broad.mit.edu	37	4	89199513	89199513	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:89199513T>C	uc003hrm.3	-	2	613	c.223A>G	c.(223-225)ATT>GTT	p.I75V	PPM1K_uc010ikp.1_Missense_Mutation_p.I75V|PPM1K_uc003hrn.2_Missense_Mutation_p.I75V	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	75					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGCAGCAGAATTGGCTCATCA	0.498		NaN											0	0	0	0.125774	0	31	35				
CENPE	1062	broad.mit.edu	37	4	104103931	104103931	+	Silent	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:104103931A>C	uc003hxb.1	-	11	1041	c.951T>G	c.(949-951)CTT>CTG	p.L317L	CENPE_uc003hxc.1_Silent_p.L317L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	317	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGAGAGCAGTAAGTGTTTCAT	0.353		NaN											0	0	0	0.116897	0	28	141				
ARSJ	79642	broad.mit.edu	37	4	114899684	114899684	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:114899684G>C	uc003ibq.1	-	1	1195	c.307C>G	c.(307-309)CTT>GTT	p.L103V	ARSJ_uc010imu.1_Missense_Mutation_p.L103V|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	103						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AGCTTGTCAAGAGTAGGTGTT	0.458		NaN											0	0	0	0.124865	0	48	79				
PRSS12	8492	broad.mit.edu	37	4	119203155	119203155	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:119203155G>T	uc003ica.1	-	13	2611	c.2564C>A	c.(2563-2565)TCT>TAT	p.S855Y		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	855	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AACACCAGGAGAATCCTTGAC	0.488		NaN											1	0	2.98393e-07	0.076483	3.0983e-07	22	91				
LRBA	987	broad.mit.edu	37	4	151771938	151771938	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:151771938C>T	uc010ipj.2	-	24	4416	c.3942G>A	c.(3940-3942)ATG>ATA	p.M1314I	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1314I	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1314	WD 1.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AACGTTGATGCATCTGAGACC	0.393		NaN											0	0	0	0.146539	0	17	90				
TLR2	7097	broad.mit.edu	37	4	154625550	154625550	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:154625550C>G	uc003inq.2	+	3	1710	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	TLR2_uc003inr.2_Silent_p.L497L|TLR2_uc003ins.2_Silent_p.L497L	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	497	LRR 13.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ATGCCTCCCTCTTACCCATGT	0.358		NaN											0	0	0	0.083992	0	22	112				
GRIA2	2891	broad.mit.edu	37	4	158142864	158142864	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:158142864G>A	uc003ipm.3	+	2	593	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	GRIA2_uc011cit.1_5'UTR|GRIA2_uc003ipl.3_Missense_Mutation_p.R45Q|GRIA2_uc003ipk.3_5'UTR|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	45	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTGCATTTCGAGTAGGGATG	0.507		NaN											0	0	0	0.080422	0	36	130				
PDLIM3	27295	broad.mit.edu	37	4	186425667	186425667	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:186425667C>G	uc003ixw.3	-	7	991	c.867G>C	c.(865-867)CAG>CAC	p.Q289H	PDLIM3_uc003ixx.3_Missense_Mutation_p.Q241H|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	289						sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCGGCATCCTCTGTGCCCCGC	0.507		NaN											0	0	0	0.0333	0	15	59				
MED10	84246	broad.mit.edu	37	5	6378552	6378552	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:6378552G>A	uc003jdo.2	-	1	88	c.45C>T	c.(43-45)TTC>TTT	p.F15F		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	15					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(1)	1						TGTTCTCCACGAACTTCTCCA	0.652		NaN											0	0	0	0.076483	0	23	14				
ADAMTS12	81792	broad.mit.edu	37	5	33614349	33614349	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:33614349C>T	uc003jia.1	-	16	2684	c.2521G>A	c.(2521-2523)GGG>AGG	p.G841R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G756R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	841	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCACCTGTCCCGCAGGTCACA	0.507		NaN								HNSCC(64;0.19)			0	0	0	0.146539	0	17	34				
HCN1	348980	broad.mit.edu	37	5	45262237	45262237	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:45262237G>A	uc003jok.2	-	8	2484	c.2459C>T	c.(2458-2460)ACG>ATG	p.T820M		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	820	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGGGACCGCCGTCACGGGTTG	0.677		NaN											0	0	0	0.074837	0	36	37				
GPR98	84059	broad.mit.edu	37	5	89948215	89948215	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:89948215T>C	uc003kju.2	+	19	3565	c.3469T>C	c.(3469-3471)TTT>CTT	p.F1157L	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1157	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGCAGCTCTTTCAGAATGA	0.373		NaN											0	0	0	0.125774	0	21	116				
PCDHA7	56141	broad.mit.edu	37	5	140215250	140215250	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140215250C>T	uc003lhq.2	+	1	1282	c.1282C>T	c.(1282-1284)CGG>TGG	p.R428W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTACCGCGCGGGACGGGGG	0.617		NaN											0	0	0	0.139131	0	43	99				
PCDHA13	56136	broad.mit.edu	37	5	140263524	140263524	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140263524C>T	uc003lif.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.697		NaN											0	0	0	0.139131	0	67	40				
ADRA1B	147	broad.mit.edu	37	5	159344642	159344642	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:159344642G>C	uc003lxt.1	+	1	903	c.730G>C	c.(730-732)GAG>CAG	p.E244Q		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	244	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AGTCATGAAGGAGATGTCCAA	0.527		NaN											0	0	0	0.139131	0	75	23				
ZNF354B	117608	broad.mit.edu	37	5	178310385	178310385	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:178310385C>T	uc003mjl.2	+	5	1158	c.932C>T	c.(931-933)TCT>TTT	p.S311F	ZNF354B_uc003mjm.2_Missense_Mutation_p.S311F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	311	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGAAGGTCTGGGCTTTTT	0.418		NaN											0	0	0	0.0333	0	18	34				
ZNF184	7738	broad.mit.edu	37	6	27420988	27420988	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:27420988G>A	uc003njj.2	-	5	1161	c.350C>T	c.(349-351)TCT>TTT	p.S117F	ZNF184_uc010jqv.2_Missense_Mutation_p.S117F|ZNF184_uc003nji.2_Missense_Mutation_p.S117F	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCTTCTTCAGAAATGTCAGG	0.373		NaN											0	0	0	0.117977	0	44	119				
GTPBP2	54676	broad.mit.edu	37	6	43593965	43593965	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:43593965C>G	uc003ovs.2	-	3	433	c.396G>C	c.(394-396)GAG>GAC	p.E132D	GTPBP2_uc010jyv.2_Missense_Mutation_p.E44D|GTPBP2_uc003ovt.1_Missense_Mutation_p.E132D	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	132							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGCATACTTCTCTGCCATCC	0.592		NaN											0	0	0	0.059317	0	32	107				
SLC25A27	9481	broad.mit.edu	37	6	46644165	46644165	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:46644165G>C	uc003oyh.2	+	9	1197	c.946G>C	c.(946-948)GAG>CAG	p.E316Q	SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.E230Q|SLC25A27_uc003oyi.2_Missense_Mutation_p.E246Q	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	316	Solcar 3.				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			AAAAATCAGAGAGATGAGTGG	0.368		NaN											0	0	0	0.144211	0	29	43				
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:52268632C>T	uc003pao.3	+	2	795	c.621C>T	c.(619-621)GTC>GTT	p.V207V		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	207	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547		NaN											0	0	0	0.139131	0	48	51				
BCLAF1	9774	broad.mit.edu	37	6	136599241	136599241	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:136599241G>C	uc003qgx.1	-	4	1031	c.778C>G	c.(778-780)CAG>GAG	p.Q260E	BCLAF1_uc003qgw.1_Missense_Mutation_p.Q260E|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q258E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q258E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	260					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTGAATGCTGAGAAGGAGTA	0.443		NaN											0	0	0	0.058154	0	10	71				
WTAP	9589	broad.mit.edu	37	6	160174506	160174506	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:160174506A>G	uc003qsl.2	+	7	689	c.467A>G	c.(466-468)AAG>AGG	p.K156R	WTAP_uc003qso.2_Missense_Mutation_p.K37R	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	156					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACAGGGAAAAAGTTAATGGCG	0.423		NaN											0	0	0	0.02938	0	7	65				
TNRC18	84629	broad.mit.edu	37	7	5352441	5352441	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:5352441G>A	uc003soi.3	-	27	8430	c.8081C>T	c.(8080-8082)TCC>TTC	p.S2694F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2694							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCTGCGCGGAAGGGCCAGC	0.622		NaN											0	0	0	0.014758	0	5	13				
EPDR1	54749	broad.mit.edu	37	7	37960368	37960368	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:37960368C>T	uc003tfp.2	+	1	206	c.187C>T	c.(187-189)CGC>TGC	p.R63C	EPDR1_uc003tfq.2_Missense_Mutation_p.R63C|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						TACCGGGACTCGCGCGTCCGG	0.672		NaN											0	0	0	0.080422	0	29	13				
ZMIZ2	83637	broad.mit.edu	37	7	44796036	44796036	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:44796036C>T	uc003tlr.2	+	3	186	c.63C>T	c.(61-63)TTC>TTT	p.F21F	ZMIZ2_uc003tlq.2_Silent_p.F21F|ZMIZ2_uc003tls.2_Silent_p.F21F	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	21					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						ATGGTTCATTCGCATATGAGT	0.577		NaN											0	0	0	0.139131	0	80	46				
HIP1	3092	broad.mit.edu	37	7	75203167	75203167	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:75203167G>C	uc003uds.1	-	8	685	c.644C>G	c.(643-645)ACG>AGG	p.T215R	HIP1_uc011kfz.1_Missense_Mutation_p.T92R	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	215					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						CCCTGCTGCCGTCACGGACAC	0.547		NaN	T	PDGFRB	CMML								0	0	0	0.021553	0	6	97				
SEMA3C	10512	broad.mit.edu	37	7	80374329	80374329	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:80374329G>A	uc003uhj.2	-	18	2699	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	SEMA3C_uc011kgw.1_Missense_Mutation_p.R731W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	713					immune response|response to drug	membrane	receptor activity			ovary(1)	1						TGTTGCTGCCGAGTGTCTTTG	0.483		NaN											0	0	0	0.080422	0	39	161				
CDK6	1021	broad.mit.edu	37	7	92462586	92462586	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92462586C>T	uc011khw.1	-	2	464	c.52G>A	c.(52-54)GAG>AAG	p.E18K	CDK6_uc010lez.2_Missense_Mutation_p.E18K	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	18	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCCGATCTCCGCCACGCAT	0.537		NaN	T	MLLT10	ALL								0	0	0	0.0333	0	16	13				
SAMD9	54809	broad.mit.edu	37	7	92732940	92732940	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92732940C>G	uc003umf.2	-	3	2727	c.2471G>C	c.(2470-2472)CGA>CCA	p.R824P	SAMD9_uc003umg.2_Missense_Mutation_p.R824P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTCATATCGAATGTACTT	0.358		NaN											0	0	0	0.083992	0	26	119				
SLC26A3	1811	broad.mit.edu	37	7	107423661	107423661	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:107423661C>G	uc003ver.2	-	9	1319	c.1108G>C	c.(1108-1110)GAT>CAT	p.D370H	SLC26A3_uc003ves.2_Missense_Mutation_p.D335H	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	370					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TGATTGCCATCAAGTGGATAA	0.423		NaN											0	0	0	0.139131	0	68	77				
DOCK4	9732	broad.mit.edu	37	7	111508111	111508111	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:111508111C>T	uc003vfx.2	-	22	2478	c.2209G>A	c.(2209-2211)GAG>AAG	p.E737K	DOCK4_uc003vfw.2_Missense_Mutation_p.E178K|DOCK4_uc003vfy.2_Missense_Mutation_p.E737K|DOCK4_uc003vga.1_Missense_Mutation_p.E342K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	737					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)				ATGAGAAGCTCCTGAATGCAG	0.433		NaN											0	0	0	0.058154	0	9	42				
TPK1	27010	broad.mit.edu	37	7	144245674	144245674	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:144245674C>T	uc003weq.2	-	8	626	c.523G>A	c.(523-525)GAC>AAC	p.D175N	TPK1_uc003weo.2_Missense_Mutation_p.D121N|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D126N|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	175					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	ATTCCAGTGTCTACATGCAAC	0.473		NaN											0	0	0	0.050027	0	33	148				
INTS9	55756	broad.mit.edu	37	8	28633422	28633422	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:28633422C>T	uc003xha.2	-	14	1716	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	INTS9_uc011lav.1_Missense_Mutation_p.E449K|INTS9_uc011law.1_Missense_Mutation_p.E452K|INTS9_uc011lax.1_Missense_Mutation_p.E366K|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	473					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GTGTACTGCTCAGGACACACC	0.622		NaN											0	0	0	0.0918	0	24	56				
VPS13B	157680	broad.mit.edu	37	8	100833675	100833675	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:100833675G>C	uc003yiv.2	+	50	9334	c.9223G>C	c.(9223-9225)GAA>CAA	p.E3075Q	VPS13B_uc003yiw.2_Missense_Mutation_p.E3050Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3075					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTTGATACTGAAATAAGACT	0.418		NaN											0	0	0	0.076483	0	22	146				
UBR5	51366	broad.mit.edu	37	8	103335546	103335546	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:103335546C>T	uc003ykr.1	-	14	1810	c.1777G>A	c.(1777-1779)GAA>AAA	p.E593K	UBR5_uc003yks.1_Missense_Mutation_p.E593K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	593					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTTAGCTTCAGTAGTTTTG	0.368		NaN											0	0	0	0.047766	0	7	54				
TG	7038	broad.mit.edu	37	8	133906095	133906095	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:133906095G>A	uc003ytw.2	+	11	2963	c.2922G>A	c.(2920-2922)CCG>CCA	p.P974P		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	974	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCTTCCTCCGCTCTTCCCGC	0.602		NaN											0	0	0	0.144211	0	31	168				
VLDLR	7436	broad.mit.edu	37	9	2652927	2652927	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:2652927C>G	uc003zhk.1	+	18	2961	c.2564C>G	c.(2563-2565)TCT>TGT	p.S855C	VLDLR_uc003zhl.1_Missense_Mutation_p.S827C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.S786C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	855	Cytoplasmic (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CACAGTGCTTCTGTTGGACAC	0.448		NaN											0	0	0	0.139131	0	72	81				
C9orf102	375748	broad.mit.edu	37	9	98690414	98690414	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:98690414C>G	uc004avt.3	+	10	2008	c.1620C>G	c.(1618-1620)CTC>CTG	p.L540L	C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Silent_p.L242L|C9orf102_uc010mry.1_Silent_p.L242L|C9orf102_uc010mrz.2_Silent_p.L351L|C9orf102_uc004avu.2_Intron	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	540	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				aagttcttctcttttcttttt	0		NaN											0	0	0	0.0918	0	25	42				
CORO2A	7464	broad.mit.edu	37	9	100888882	100888882	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:100888882C>G	uc004ayl.2	-	11	1661	c.1395G>C	c.(1393-1395)CTG>CTC	p.L465L	CORO2A_uc004aym.2_Silent_p.L465L|CORO2A_uc004ayk.2_Silent_p.L112L	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	465					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				AGCCATTTGTCAGCCAGGTTT	0.567		NaN											0	0	0	0.139131	0	64	152				
SVEP1	79987	broad.mit.edu	37	9	113213596	113213596	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:113213596G>A	uc010mtz.2	-	23	4211	c.3874C>T	c.(3874-3876)CGT>TGT	p.R1292C	SVEP1_uc010mua.1_Missense_Mutation_p.R1292C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1292	EGF-like 3; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATGTGCAACGATAGCCAGCC	0.373		NaN											0	0	0	0.134883	0	30	14				
NUP188	23511	broad.mit.edu	37	9	131721315	131721315	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:131721315G>C	uc004bws.1	+	8	509	c.487G>C	c.(487-489)GAT>CAT	p.D163H		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	163					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						AGACTGTGTTGATAAATTGGA	0.284		NaN											0	0	0	0.116897	0	29	45				
FNBP1	23048	broad.mit.edu	37	9	132658259	132658259	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:132658259C>T	uc004byw.1	-	16	1923	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T	FNBP1_uc011mbv.1_Silent_p.T558T|FNBP1_uc011mbw.1_Silent_p.T563T|FNBP1_uc004bza.2_Silent_p.T502T|FNBP1_uc004byz.1_Silent_p.T539T|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Silent_p.T196T|FNBP1_uc004byx.1_Silent_p.T484T|FNBP1_uc004byy.1_Silent_p.T474T	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	568	Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTACGGAAATCGTTCCTTCAT	0.443		NaN	T	MLL	AML								0	0	0	0.0918	0	22	49				
DDX31	64794	broad.mit.edu	37	9	135545428	135545428	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:135545428G>A	uc004cbq.1	-	1	361	c.209C>T	c.(208-210)CCC>CTC	p.P70L	DDX31_uc010mzu.1_Missense_Mutation_p.P70L|DDX31_uc004cbr.1_Missense_Mutation_p.P70L|DDX31_uc004cbs.1_Missense_Mutation_p.P70L|GTF3C4_uc010mzv.2_5'Flank|GTF3C4_uc010mzw.2_5'Flank	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	70						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCCCTTCCGGGTCCGGAACG	0.761		NaN											0	0	0	0.115264	0	2	1				
RXRA	6256	broad.mit.edu	37	9	137300844	137300844	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:137300844G>A	uc004cfb.2	+	4	651	c.489G>A	c.(487-489)GTG>GTA	p.V163V	RXRA_uc004cfc.1_Silent_p.V66V	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	163	Nuclear receptor.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGCGGACGGTGCGCAAGGACC	0.642		NaN											0	0	0	0.139131	0	64	32				
NOTCH1	4851	broad.mit.edu	37	9	139391498	139391498	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139391498G>C	uc004chz.2	-	34	6693	c.6693C>G	c.(6691-6693)CTC>CTG	p.L2231L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2231	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGTGGTTGAGGGGCACGG	0.721		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.11911	0	12	16				
ENTPD2	954	broad.mit.edu	37	9	139945421	139945421	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139945421T>C	uc004ckw.1	-	5	763	c.707A>G	c.(706-708)TAC>TGC	p.Y236C	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Y236C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	236	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGTGGGTGTAGACTCGGTA	0.632		NaN											0	0	0	0.105934	0	6	23				
KAL1	3730	broad.mit.edu	37	X	8507728	8507728	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:8507728C>T	uc004csf.2	-	10	1576	c.1426G>A	c.(1426-1428)GAG>AAG	p.E476K		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	476	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GATGATGCCTCTGATCCGGTT	0.453		NaN											0	0	0	0.139131	0	48	259				
DMD	1756	broad.mit.edu	37	X	31645811	31645811	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:31645811T>G	uc004dda.1	-	55	8440	c.8196A>C	c.(8194-8196)AAA>AAC	p.K2732N	DMD_uc004dcr.1_Missense_Mutation_p.K272N|DMD_uc004dcs.1_Missense_Mutation_p.K272N|DMD_uc004dct.1_Missense_Mutation_p.K272N|DMD_uc004dcu.1_Missense_Mutation_p.K272N|DMD_uc004dcv.1_Missense_Mutation_p.K272N|DMD_uc004dcw.2_Missense_Mutation_p.K1388N|DMD_uc004dcx.2_Missense_Mutation_p.K1391N|DMD_uc004dcz.2_Missense_Mutation_p.K2609N|DMD_uc004dcy.1_Missense_Mutation_p.K2728N|DMD_uc004ddb.1_Missense_Mutation_p.K2724N	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2732	Spectrin 19.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCAGCTCTTTTACTCCCT	0.433		NaN											0	0	0	0.049695	0	15	90				
EFHC2	80258	broad.mit.edu	37	X	44108098	44108098	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44108098C>T	uc004dgb.3	-	7	1013	c.923G>A	c.(922-924)GGT>GAT	p.G308D		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	308	DM10 2.						calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						TATAAAGTCACCATATGAATT	0.378		NaN											0	0	0	0.092188	0	38	45				
KDM6A	7403	broad.mit.edu	37	X	44938512	44938512	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44938512C>T	uc004dge.3	+	20	3435	c.3060C>T	c.(3058-3060)ATC>ATT	p.I1020I	KDM6A_uc010nhk.2_Silent_p.I986I|KDM6A_uc011mkz.1_Silent_p.I1072I|KDM6A_uc011mla.1_Silent_p.I975I|KDM6A_uc011mlb.1_Silent_p.I1027I|KDM6A_uc011mlc.1_Silent_p.I724I|KDM6A_uc011mld.1_Silent_p.I659I	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1020					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CAAAGAAAATCTGGCATTGTG	0.403		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.139131	0	48	100				
HUWE1	10075	broad.mit.edu	37	X	53603879	53603879	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:53603879T>C	uc004dsp.2	-	44	6267	c.5865A>G	c.(5863-5865)GCA>GCG	p.A1955A	HUWE1_uc004dsn.2_Silent_p.A780A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1955					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGCATGGTATGCAGCCAGAG	0.383		NaN											0	0	0	0.139131	0	45	68				
FAM120C	54954	broad.mit.edu	37	X	54143003	54143003	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:54143003G>C	uc004dsz.3	-	10	2370	c.2287C>G	c.(2287-2289)CTG>GTG	p.L763V	FAM120C_uc011moh.1_Missense_Mutation_p.L763V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	763										ovary(1)|central_nervous_system(1)	2						ATGAGCAGCAGATGGGTGGGG	0.478		NaN											0	0	0	0.146539	0	14	83				
STARD8	9754	broad.mit.edu	37	X	67940785	67940785	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:67940785C>T	uc004dxa.2	+	8	2201	c.1829C>T	c.(1828-1830)TCT>TTT	p.S610F	STARD8_uc004dxb.2_Missense_Mutation_p.S690F|STARD8_uc004dxc.3_Missense_Mutation_p.S610F	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	610	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						TTCCGCAAGTCTGGGGTCAAG	0.572		NaN											0	0	0	0.069456	0	36	39				
MED12	9968	broad.mit.edu	37	X	70345221	70345221	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70345221G>T	uc004dyy.2	+	16	2446	c.2247G>T	c.(2245-2247)GAG>GAT	p.E749D	MED12_uc011mpq.1_Missense_Mutation_p.E749D|MED12_uc004dyz.2_Missense_Mutation_p.E749D|MED12_uc004dza.2_Missense_Mutation_p.E596D	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	749					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCAGCCATGAGTGCAACCAGC	0.542		NaN											1	0	3.76525e-18	0.139131	4.08016e-18	46	26				
TAF1	6872	broad.mit.edu	37	X	70608124	70608124	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70608124G>A	uc004dzu.3	+	16	2513	c.2462G>A	c.(2461-2463)CGG>CAG	p.R821Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R842Q|TAF1_uc004dzv.3_5'UTR	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	821					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AGTAAAGATCGGCCACGGAGG	0.433		NaN											0	0	0	0.139131	0	104	82				
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:78427144G>A	uc004edg.1	+	1	676	c.640G>A	c.(640-642)GAT>AAT	p.D214N		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	214	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						ATCACTGCAAGATAAATATCC	0.428		NaN								HNSCC(63;0.18)			0	0	0	0.059317	0	31	99				
DRP2	1821	broad.mit.edu	37	X	100513302	100513302	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:100513302C>T	uc004egz.2	+	22	2764	c.2395C>T	c.(2395-2397)CTC>TTC	p.L799F	DRP2_uc011mrh.1_Missense_Mutation_p.L721F	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	799					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TGGCAGGATTCTCCAGGGAGA	0.587		NaN											0	0	0	0.02938	0	3	6				
HTR2C	3358	broad.mit.edu	37	X	114141690	114141690	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:114141690C>T	uc004epu.1	+	6	1817	c.1089C>T	c.(1087-1089)ATC>ATT	p.I363I	HTR2C_uc010nqc.1_Silent_p.I363I|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	363	Helical; Name=7; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTTCAGGAATCAATCCTCTGG	0.398		NaN											0	0	0	0.139131	0	139	155				
GLUD2	2747	broad.mit.edu	37	X	120183007	120183007	+	Missense_Mutation	SNP	C	C	T	rs141237083		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:120183007C>T	uc004eto.2	+	1	1546	c.1469C>T	c.(1468-1470)ACG>ATG	p.T490M		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	490					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGTACCCACGGCAGAGTTC	0.438		NaN											0	0	0	0.139131	0	111	111				
UTP14A	10813	broad.mit.edu	37	X	129059059	129059059	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:129059059C>G	uc004euz.2	+	12	1665	c.1637C>G	c.(1636-1638)CCT>CGT	p.P546R	UTP14A_uc011mup.1_Missense_Mutation_p.P494R|UTP14A_uc011muq.1_Missense_Mutation_p.P492R	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	546					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						AATAATCGCCCTGATGCCCCT	0.478		NaN											0	0	0	0.139131	0	165	163				
MAGEC1	9947	broad.mit.edu	37	X	140995585	140995585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:140995585C>T	uc004fbt.2	+	4	2681	c.2395C>T	c.(2395-2397)CAG>TAG	p.Q799*	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	799							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTCCTCC	0.567		NaN								HNSCC(15;0.026)			0	0	0	0.139131	0	204	343				
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:144337274G>A	uc004fcb.2	+	2	159	c.159G>A	c.(157-159)GCG>GCA	p.A53A		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	53											0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433		NaN											0	0	0	0.139131	0	88	129				
UBL4A	8266	broad.mit.edu	37	X	153713943	153713943	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:153713943G>A	uc004flo.2	-	4	418	c.409C>T	c.(409-411)CGG>TGG	p.R137W		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	137					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	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)					CTGGCCAACCGTTCGATGTCG	0.602		NaN											0	0	0	0.139131	0	45	223				
KLF5	688	broad.mit.edu	37	13	73636411	73636412	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:73636411_73636412insG	uc001vje.2	+	2	998_999	c.674_675insG	c.(673-675)CAGfs	p.Q225fs	KLF5_uc001vjd.2_Frame_Shift_Ins_p.Q134fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	225					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTACCCAGCAGGGCCACCTGT	0.455		NaN											NaN	NaN	NaN	NaN	NaN	27	83	---	Valid	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:24633132_24633134delAGC	uc001wmq.2	+	5	668_670	c.541_543delAGC	c.(541-543)AGCdel	p.S187del	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_In_Frame_Del_p.S85del	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.448		NaN											NaN	NaN	NaN	NaN	NaN	8	173	---		---	---
CRYBA2	1412	broad.mit.edu	37	2	219857870	219857884	+	In_Frame_Del	DEL	GCCGGGCCCGGCGCG	GCCGGGCCCGGCGCG	-	rs141631259	by1000genomes	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219857870_219857884delGCCGGGCCCGGCGCG	uc002vjj.1	-	2	50_64	c.15_29delCGCGCCGGGCCCGGC	c.(13-30)CCCGCGCCGGGCCCGGCG>CCG	p.APGPA6del	CRYBA2_uc002vjk.1_In_Frame_Del_p.APGPA6del	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	6_10	N-terminal arm.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTggcgggcgccgggcccggcgcgggggcgcTGC	0.581		NaN											NaN	NaN	NaN	NaN	NaN	6	11	---		---	---
AGFG2	3268	broad.mit.edu	37	7	100148019	100148022	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:100148019_100148022delGTTT	uc003uvf.2	+	3	452_455	c.316_319delGTTT	c.(316-321)GTTTGCfs	p.V106fs	AGFG2_uc003uvg.1_Frame_Shift_Del_p.V106fs|AGFG2_uc010lgy.2_5'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	106_107	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						ATTCTTTTAGGTTTGCCGGAAGAT	0.348		NaN											NaN	NaN	NaN	NaN	NaN	163	137	---		---	---
FLNC	2318	broad.mit.edu	37	7	128492642	128492651	+	Splice_Site	DEL	CAGGTGATGA	CAGGTGATGA	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:128492642_128492651delCAGGTGATGA	uc003vnz.3	+	36	6052	c.5843_splice	c.e36-1	p.G1948_splice	FLNC_uc003voa.3_Splice_Site_p.G1915_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a						cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACTCCCCCACCAGGTGATGACTCCATGAGG	0.624		NaN											NaN	NaN	NaN	NaN	NaN	15	191	---		---	---
