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_tumor_sample							
DNAJC16	23341	broad.mit.edu	37	1	15870967	15870967	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:15870967C>T	uc001aws.2	+	5	768	c.648C>T	c.(646-648)CCC>CCT	p.P216P	DNAJC16_uc001awr.1_Silent_p.P216P|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	216	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGCACGCCCTCTATCCTAG	0.478		NaN											0	0	0	0.013726	0	33	24									
C1orf64	149563	broad.mit.edu	37	1	16332663	16332663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:16332663C>T	uc001axn.2	+	2	400	c.332C>T	c.(331-333)CCG>CTG	p.P111L		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	hypothetical protein LOC149563	111										breast(2)	2		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCCTGCCGCTCTGCAGA	0.647		NaN											0	0	0	0.004482	0	8	67									
PLA2G2E	30814	broad.mit.edu	37	1	20246922	20246922	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:20246922G>A	uc001bct.1	-	4	365	c.307C>T	c.(307-309)CGG>TGG	p.R103W		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	103					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTCAGCCGCTGGCAGGTG	0.592		NaN											0	0	0	0.013537	0	11	57									
ARID1A	8289	broad.mit.edu	37	1	27099361	27099361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:27099361C>T	uc001bmv.1	+	14	3971	c.3598C>T	c.(3598-3600)CAG>TAG	p.Q1200*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1199*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1200*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q817*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q46*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1200					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCACATTCCAGAAGCGGAA	0.458		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.003954	0	27	31									
BAI2	576	broad.mit.edu	37	1	32205620	32205620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:32205620C>T	uc001btn.2	-	14	2428	c.2074G>A	c.(2074-2076)GTG>ATG	p.V692M	BAI2_uc010ogo.1_Missense_Mutation_p.V334M|BAI2_uc010ogp.1_Missense_Mutation_p.V625M|BAI2_uc010ogq.1_Missense_Mutation_p.V692M|BAI2_uc001bto.2_Missense_Mutation_p.V692M|BAI2_uc001btq.1_Missense_Mutation_p.V625M|BAI2_uc010ogr.1_Missense_Mutation_p.C501Y	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	692	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGTGCACAGAGCCAGGG	0.587		NaN											0	0	0	0.010729	0	11	54									
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:39340782G>C	uc001cct.1	-	2	1270	c.989C>G	c.(988-990)TCT>TGT	p.S330C	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313		NaN											0	0	0	0.000602	0	5	77									
PTPRF	5792	broad.mit.edu	37	1	44071029	44071029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:44071029C>T	uc001cjr.2	+	18	3644	c.3304C>T	c.(3304-3306)CAC>TAC	p.H1102Y	PTPRF_uc001cjs.2_Missense_Mutation_p.H1093Y|PTPRF_uc001cju.2_Missense_Mutation_p.H480Y|PTPRF_uc009vwt.2_Missense_Mutation_p.H662Y|PTPRF_uc001cjv.2_Missense_Mutation_p.H562Y|PTPRF_uc001cjw.2_Missense_Mutation_p.H328Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1102	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCTCACAAGCCGCT	0.632		NaN											0	0	0	0.008291	0	10	43									
LRRIQ3	127255	broad.mit.edu	37	1	74507499	74507499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:74507499C>A	uc001dfy.3	-	7	1308	c.1116G>T	c.(1114-1116)GAG>GAT	p.E372D	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	372										ovary(2)	2						GTTGTTTTTTCTCTCTCAATA	0.338		NaN											1	0	9.16793e-09	0.00499	1.04934e-08	14	51									
POGZ	23126	broad.mit.edu	37	1	151378506	151378506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:151378506C>T	uc001eyd.1	-	19	3311	c.3005G>A	c.(3004-3006)CGT>CAT	p.R1002H	POGZ_uc001eye.1_Missense_Mutation_p.R949H|POGZ_uc010pdb.1_Missense_Mutation_p.R993H|POGZ_uc001eyf.1_Missense_Mutation_p.R958H|POGZ_uc010pdc.1_Missense_Mutation_p.R940H|POGZ_uc009wmv.1_Missense_Mutation_p.R907H|POGZ_uc010pdd.1_Missense_Mutation_p.R493H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1002					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGAATACGTCGCTGGGG	0.512		NaN											0	0	0	0.012319	0	22	199									
SPTA1	6708	broad.mit.edu	37	1	158596663	158596663	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158596663G>A	uc001fst.1	-	41	5998	c.5799C>T	c.(5797-5799)TTC>TTT	p.F1933F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1933	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCTTCCAGTTGAATTCCTGAA	0.458		NaN											0	0	0	0.010818	0	27	136									
SPTA1	6708	broad.mit.edu	37	1	158646079	158646079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158646079C>T	uc001fst.1	-	8	1163	c.964G>A	c.(964-966)GAG>AAG	p.E322K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	322	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GCACATAACTCCTTCACCTTT	0.438		NaN											0	0	0	0.010504	0	19	122									
DHX9	1660	broad.mit.edu	37	1	182841625	182841625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:182841625C>T	uc001gpr.2	+	15	1874	c.1711C>T	c.(1711-1713)CAA>TAA	p.Q571*	DHX9_uc001gps.2_Nonsense_Mutation_p.Q357*	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	571					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TTACCCAGTTCAAGGTAATAT	0.358		NaN											0	0	0	0.00308	0	7	109									
LHX9	56956	broad.mit.edu	37	1	197890578	197890578	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:197890578C>T	uc001guk.1	+	3	959	c.522C>T	c.(520-522)TTC>TTT	p.F174F	LHX9_uc001gui.1_Silent_p.F165F|LHX9_uc001guj.1_Silent_p.F180F	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	174	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCGACCATTTCGGCATGAAGG	0.612		NaN											0	0	0	0.001855	0	12	45									
PTPN14	5784	broad.mit.edu	37	1	214557839	214557839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:214557839C>G	uc001hkk.1	-	13	1630	c.1359G>C	c.(1357-1359)AAG>AAC	p.K453N	PTPN14_uc010pty.1_Missense_Mutation_p.K354N	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	453					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGATCCCCCTCTTCATCTGGC	0.572		NaN											0	0	0	0.010771	0	45	171									
TRIM11	81559	broad.mit.edu	37	1	228589812	228589812	+	Silent	SNP	C	C	T	rs148386528		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:228589812C>T	uc001hss.2	-	2	714	c.459G>A	c.(457-459)GCG>GCA	p.A153A	TRIM11_uc010pvx.1_Silent_p.A153A|TRIM11_uc001hst.1_Silent_p.A153A	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	153	Potential.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				GGAACAGCAACGCATCCTGCA	0.627		NaN											0	0	0	0.009096	0	4	26									
RYR2	6262	broad.mit.edu	37	1	237729962	237729962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237729962G>T	uc001hyl.1	+	28	3430	c.3310G>T	c.(3310-3312)GAA>TAA	p.E1104*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1104	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGTATTTTGAATTTGAGAC	0.567		NaN											1	0	8.24728e-16	0.004656	9.85524e-16	26	124									
RYR2	6262	broad.mit.edu	37	1	237765404	237765404	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237765404G>C	uc001hyl.1	+	35	4796	c.4676G>C	c.(4675-4677)AGA>ACA	p.R1559T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1559	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTGGGAAGAATAAAGGTA	0.303		NaN											0	0	0	0.000602	0	5	35									
ZNF672	79894	broad.mit.edu	37	1	249142538	249142538	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:249142538C>T	uc001iex.2	+	4	1760	c.1065C>T	c.(1063-1065)AAC>AAT	p.N355N		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	355	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAATCTCAACGTGCATCGGC	0.647		NaN											0	0	0	0.009096	0	4	22									
FAM171A1	221061	broad.mit.edu	37	10	15325934	15325934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:15325934C>T	uc001iob.2	-	2	275	c.268G>A	c.(268-270)GCC>ACC	p.A90T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	90	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TGCTTCGAGGCGGTGACAATC	0.542		NaN											0	0	0	0.010729	0	12	181									
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:18242228C>T	uc001ipo.2	+	2	296	c.23C>T	c.(22-24)TCA>TTA	p.S8L	SLC39A12_uc001ipn.2_Missense_Mutation_p.S8L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S8L|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	8	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						ACAAAGCTCTCAGTATCCTGG	0.502		NaN											0	0	0	0.008291	0	11	200									
RRP12	23223	broad.mit.edu	37	10	99148350	99148350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:99148350G>A	uc001knf.2	-	7	924	c.785C>T	c.(784-786)TCA>TTA	p.S262L	RRP12_uc009xvm.2_Intron|RRP12_uc010qou.1_Missense_Mutation_p.S201L|RRP12_uc009xvn.2_Missense_Mutation_p.S162L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	262						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGAGGACTGAGCATACTCC	0.552		NaN											0	0	0	0.00308	0	8	41									
SFXN2	118980	broad.mit.edu	37	10	104491933	104491933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:104491933C>T	uc001kwb.2	+	8	845	c.679C>T	c.(679-681)CAA>TAA	p.Q227*	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	227					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCATCACCCAAGTAGTTAT	0.532		NaN											0	0	0	0.004878	0	37	71									
ITPRIP	85450	broad.mit.edu	37	10	106075629	106075629	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:106075629G>T	uc001kye.2	-	2	254	c.181C>A	c.(181-183)CGG>AGG	p.R61R	ITPRIP_uc001kyf.2_Silent_p.R61R|ITPRIP_uc001kyg.2_Silent_p.R61R	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	61	Potential.					plasma membrane					0						GCCGCCAGCCGAGCCACCTCC	0.662		NaN											1	0	1.40151e-16	0.010504	1.68536e-16	20	88									
ADD3	120	broad.mit.edu	37	10	111893106	111893106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:111893106G>C	uc001kyt.3	+	16	2165	c.1851G>C	c.(1849-1851)AAG>AAC	p.K617N	ADD3_uc001kys.3_Missense_Mutation_p.K585N|ADD3_uc001kyu.2_Missense_Mutation_p.K617N|ADD3_uc001kyv.2_Missense_Mutation_p.K617N|ADD3_uc001kyw.2_Missense_Mutation_p.K585N|ADD3_uc001kyx.2_Missense_Mutation_p.K190N	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	617						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGTTTTCCAAGAGCTTCATCT	0.393		NaN											0	0	0	0.00245	0	14	90									
FGFR2	2263	broad.mit.edu	37	10	123353267	123353267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:123353267C>T	uc010qtk.1	-	2	712	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	FGFR2_uc010qtg.1_Missense_Mutation_p.R22Q|FGFR2_uc010qth.1_Missense_Mutation_p.R22Q|FGFR2_uc010qti.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtj.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtl.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtm.1_Missense_Mutation_p.R22Q|FGFR2_uc001lfl.3_Missense_Mutation_p.R22Q|FGFR2_uc001lfm.2_Missense_Mutation_p.R22Q|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.R41Q|FGFR2_uc010qto.1_Missense_Mutation_p.R41Q|FGFR2_uc001lfo.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtp.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtq.1_Missense_Mutation_p.R41Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	22	Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAAGGAGGGCCGGGCCAGGGA	0.502		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00278	0	21	45									
C11orf2	738	broad.mit.edu	37	11	64875072	64875072	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:64875072G>A	uc001ocr.1	+	3	418	c.378G>A	c.(376-378)AAG>AAA	p.K126K	C11orf2_uc001ocs.1_Silent_p.K2K	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	126	Potential.				lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GGAAGATGAAGAACGATTTCC	0.622		NaN											0	0	0	0.001855	0	13	45									
PELI3	246330	broad.mit.edu	37	11	66241241	66241241	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66241241C>T	uc001oic.3	+	7	849	c.685C>T	c.(685-687)CTG>TTG	p.L229L	PELI3_uc001oib.2_Silent_p.L229L|PELI3_uc001oid.3_Silent_p.L205L|PELI3_uc001oie.3_Silent_p.L80L|PELI3_uc010rpd.1_Silent_p.L70L	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	229						cytosol	protein binding			ovary(1)	1						CCCAGATGGCCTGATGGATGG	0.657		NaN											0	0	0	0.004672	0	3	69									
ACTN3	89	broad.mit.edu	37	11	66330384	66330384	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66330384G>C	uc001oio.1	+	21	2524	c.2506G>C	c.(2506-2508)GAG>CAG	p.E836Q	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	836					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						TGACACGACTGAGCAAGTTGT	0.602		NaN											0	0	0	0.00308	0	8	109									
ARHGAP20	57569	broad.mit.edu	37	11	110486316	110486316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:110486316G>A	uc001pkz.1	-	6	791	c.506C>T	c.(505-507)TCT>TTT	p.S169F	ARHGAP20_uc001pky.1_Missense_Mutation_p.S146F|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S133F|ARHGAP20_uc001pla.1_Missense_Mutation_p.S133F	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	169	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTGTTCTGGAGAACTGCAATC	0.299		NaN											0	0	0	0.008291	0	9	66									
TMPRSS13	84000	broad.mit.edu	37	11	117789394	117789394	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:117789394G>A	uc001prs.1	-	2	274	c.181C>T	c.(181-183)CCA>TCA	p.P61S	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.P61S	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	61	4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTACCAGCTGGAGATGCCTGG	0.697		NaN											0	0	0	0.00308	0	7	86									
LRP1	4035	broad.mit.edu	37	12	57597024	57597024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:57597024G>T	uc001snd.2	+	69	11238	c.10772G>T	c.(10771-10773)CGC>CTC	p.R3591L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3591	LDL-receptor class A 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGCGGGGCGCTGGAAATGC	0.672		NaN											1	0	0.00116845	0.001168	0.00126139	6	30									
CPM	1368	broad.mit.edu	37	12	69265567	69265567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:69265567C>T	uc001sup.2	-	4	489	c.428G>A	c.(427-429)GGA>GAA	p.G143E	CPM_uc001sur.2_Missense_Mutation_p.G143E|CPM_uc001suq.2_Missense_Mutation_p.G143E	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	143					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTTTACCTTCCGATGCTGTA	0.463		NaN											0	0	0	0.010504	0	19	100									
KITLG	4254	broad.mit.edu	37	12	88912549	88912550	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:88912549_88912550AC>GA	uc001tav.2	-	4	470_471	c.287_288GT>TC	c.(286-288)AGT>ATC	p.S96I	KITLG_uc009zsn.2_Missense_Mutation_p.S24I|KITLG_uc001taw.2_Missense_Mutation_p.S96I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	96	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						TGGAATAATTACTCAAGCCTTC	0.376		NaN							Testicular_Cancer_Familial_Clustering_of				0	0	0	0.004672	0	15	34									
SCYL2	55681	broad.mit.edu	37	12	100731227	100731227	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:100731227G>A	uc001thn.2	+	17	2138	c.2088G>A	c.(2086-2088)CTG>CTA	p.L696L	SCYL2_uc001thm.1_Silent_p.L696L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	696	Potential.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						CACAGAAGCTGAAAAGCCAGC	0.378		NaN											0	0	0	0.001984	0	7	69									
NCOR2	9612	broad.mit.edu	37	12	124821373	124821373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:124821373G>A	uc010tay.1	-	40	6227	c.6071C>T	c.(6070-6072)TCG>TTG	p.S2024L	NCOR2_uc010taz.1_Missense_Mutation_p.S2008L|NCOR2_uc010tax.1_Missense_Mutation_p.S135L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2025					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)		GTCCGAGGCCGAGGCAGGTGG	0.652		NaN											0	0	0	0.006214	0	9	68									
AKAP11	11215	broad.mit.edu	37	13	42882729	42882729	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:42882729C>T	uc001uys.1	+	9	5432	c.5257C>T	c.(5257-5259)CAT>TAT	p.H1753Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1753	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGTTTTCATCATCTAAG	0.348		NaN											0	0	0	0.008291	0	10	60									
PIBF1	10464	broad.mit.edu	37	13	73539485	73539485	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:73539485G>C	uc001vjc.2	+	15	2212	c.1907G>C	c.(1906-1908)AGA>ACA	p.R636T	PIBF1_uc001vjb.2_Missense_Mutation_p.R636T|PIBF1_uc010aep.2_Missense_Mutation_p.R95T	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	636						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTGCGTCAGAGAGATTCTAAG	0.353		NaN											0	0	0	0.006214	0	9	95									
RBM26	64062	broad.mit.edu	37	13	79945293	79945293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:79945293G>A	uc001vkz.2	-	5	435	c.421C>T	c.(421-423)CGT>TGT	p.R141C	RBM26_uc001vky.2_Missense_Mutation_p.R141C|RBM26_uc001vla.2_Missense_Mutation_p.R141C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	141	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCTCATCACGGCTTCTAAAG	0.338		NaN											0	0	0	0.006214	0	10	118									
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:101315270G>T	uc001vou.2	-	4	603	c.443C>A	c.(442-444)GCG>GAG	p.A148E	TMTC4_uc001vot.2_Missense_Mutation_p.A167E|TMTC4_uc010tja.1_Intron	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	148	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGGGACGCCCTGGGGGC	0.602		NaN											1	0	7.48243e-07	0.006214	8.4122e-07	8	147									
DHRS7	51635	broad.mit.edu	37	14	60619882	60619882	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:60619882G>A	uc001xes.2	-	4	592	c.408C>T	c.(406-408)GTC>GTT	p.V136V	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.V86V|DHRS7_uc001xeu.2_Silent_p.V136V	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	136							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACCATTGTTGACCAGAATGT	0.423		NaN											0	0	0	0.013537	0	13	48									
PSEN1	5663	broad.mit.edu	37	14	73664744	73664744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:73664744G>A	uc001xnr.2	+	8	1059	c.775G>A	c.(775-777)GTG>ATG	p.V259M	PSEN1_uc001xnv.2_Missense_Mutation_p.V255M|PSEN1_uc010ark.2_Missense_Mutation_p.V255M|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	259	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCTAGATTTAGTGGCTGTTTT	0.368		NaN											0	0	0	0.009096	0	4	34									
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:93125804C>T	uc001yap.2	+	7	2477	c.2325C>T	c.(2323-2325)CTC>CTT	p.L775L	RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582		NaN											0	0	0	0.008291	0	10	108									
HERC1	8925	broad.mit.edu	37	15	63984690	63984690	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:63984690G>C	uc002amp.2	-	31	5898	c.5750C>G	c.(5749-5751)TCA>TGA	p.S1917*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1917					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AATTGCTTTTGAAGATACAAC	0.403		NaN											0	0	0	0.000602	0	5	75									
CLPX	10845	broad.mit.edu	37	15	65447361	65447361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65447361G>A	uc002aom.2	-	11	1442	c.1370C>T	c.(1369-1371)GCA>GTA	p.A457V	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	457					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						AGCAAGGTCTGCAGCAGCTGC	0.408		NaN											0	0	0	0.001855	0	14	58									
DENND4A	10260	broad.mit.edu	37	15	65983668	65983668	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65983668G>A	uc002aph.2	-	22	3510	c.3132C>T	c.(3130-3132)CTC>CTT	p.L1044L	DENND4A_uc002api.2_Silent_p.L1087L|DENND4A_uc002apj.3_Silent_p.L1044L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TAATTCTATTGAGCATAAATC	0.383		NaN											0	0	0	0.001168	0	5	57									
CORO2B	10391	broad.mit.edu	37	15	68987486	68987486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:68987486G>A	uc002arj.3	+	3	253	c.224G>A	c.(223-225)AGG>AAG	p.R75K	CORO2B_uc010bic.2_Missense_Mutation_p.R70K	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	75					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CAGACAGGCAGGATTGAACCC	0.532		NaN											0	0	0	0.00333	0	24	87									
NRG4	145957	broad.mit.edu	37	15	76254308	76254308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:76254308C>T	uc002bbo.2	-	4	296	c.112G>A	c.(112-114)GAA>AAA	p.E38K	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	38	Extracellular (Potential).|EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						GTATAGTTTTCAACGCACCTA	0.388		NaN											0	0	0	0.008871	0	21	107									
CHD2	1106	broad.mit.edu	37	15	93547859	93547859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:93547859G>T	uc002bsp.2	+	34	4866	c.4291G>T	c.(4291-4293)GAT>TAT	p.D1431Y	CHD2_uc002bso.1_Missense_Mutation_p.D1431Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1431					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAAAGTGGTGATGCCAAATC	0.403		NaN											1	0	0.00307968	0.00308	0.00330587	7	132									
COG8	84342	broad.mit.edu	37	16	69373204	69373204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:69373204G>C	uc002ewy.2	-	1	323	c.252C>G	c.(250-252)TTC>TTG	p.F84L	COG8_uc002ewz.3_Missense_Mutation_p.F84L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	84					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						TGTAGTTAGCGAAGGCCAAGT	0.716		NaN											0	0	0	0.009096	0	4	30									
ANKRD11	29123	broad.mit.edu	37	16	89348346	89348346	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:89348346T>C	uc002fmx.1	-	9	5065	c.4604A>G	c.(4603-4605)AAG>AGG	p.K1535R	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1492R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1535	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCACCGTCCTTGAATTTCTC	0.597		NaN											0	0	0	0.004672	0	3	84									
MINK1	50488	broad.mit.edu	37	17	4799524	4799524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4799524G>T	uc010vsl.1	+	29	3698	c.3502G>T	c.(3502-3504)GAC>TAC	p.D1168Y	MINK1_uc010vsk.1_Missense_Mutation_p.D1139Y|MINK1_uc010vsm.1_Missense_Mutation_p.D1148Y|MINK1_uc010vsn.1_Missense_Mutation_p.D1131Y|MINK1_uc010vso.1_Missense_Mutation_p.D1076Y|MINK1_uc010vsp.1_Missense_Mutation_p.D629Y	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1168	Mediates interaction with RAP2A.|CNH.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TCTGCTGGTCGACCTGACAGT	0.627		NaN									OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00116845	0.001168	0.00126139	6	53									
CAMTA2	23125	broad.mit.edu	37	17	4883529	4883529	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4883529T>C	uc002gah.1	-	9	1196	c.1088A>G	c.(1087-1089)GAG>GGG	p.E363G	CAMTA2_uc010cku.1_Missense_Mutation_p.E386G|CAMTA2_uc002gag.1_Missense_Mutation_p.E362G|CAMTA2_uc002gai.1_Missense_Mutation_p.E365G|CAMTA2_uc010ckv.1_Missense_Mutation_p.E10G|CAMTA2_uc010vsu.1_Missense_Mutation_p.E176G	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	363					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCAGAAGGCTCAGTGCCTAC	0.617		NaN											0	0	0	0.003954	0	24	24									
SSH2	85464	broad.mit.edu	37	17	27963225	27963225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:27963225C>G	uc002heo.1	-	14	1942	c.1942G>C	c.(1942-1944)GAT>CAT	p.D648H	SSH2_uc010wbh.1_Missense_Mutation_p.D675H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	648					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCAATGCGATCTGTACTGAAA	0.498		NaN											0	0	0	0.004672	0	3	124									
MLLT6	4302	broad.mit.edu	37	17	36874167	36874167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:36874167G>A	uc002hqi.3	+	12	1916	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	MLLT6_uc002hqj.2_Missense_Mutation_p.V70I|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	635					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CATGGGTGCCGTTAATCCCCT	0.557		NaN	T	MLL	AL								0	0	0	0.001984	0	6	170									
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:39240729A>G	uc010wfn.1	+	1	271	c.271A>G	c.(271-273)ATG>GTG	p.M91V		NM_033061	NP_149050			keratin associated protein 4-7												0						cagctgctgtatgtccagctg	0.189		NaN											0	0	0	0.000602	0	3	38									
BECN1	8678	broad.mit.edu	37	17	40971588	40971588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:40971588G>A	uc002ibo.3	-	4	373	c.238C>T	c.(238-240)CGC>TGC	p.R80C	BECN1_uc010whb.1_5'UTR|BECN1_uc010whc.1_Missense_Mutation_p.R80C|BECN1_uc002ibn.2_Missense_Mutation_p.R80C	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	80					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGAATCTGCGAGAGACACCA	0.483		NaN									OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	46									
MYST2	11143	broad.mit.edu	37	17	47893222	47893222	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:47893222G>A	uc002ipm.2	+	8	1036	c.910G>A	c.(910-912)GAG>AAG	p.E304K	MYST2_uc002ipl.1_Missense_Mutation_p.E274K|MYST2_uc010wma.1_Missense_Mutation_p.E165K|MYST2_uc010wmb.1_Missense_Mutation_p.E194K|MYST2_uc010wmc.1_Missense_Mutation_p.E135K|MYST2_uc010wmd.1_Missense_Mutation_p.E148K|MYST2_uc010wme.1_Missense_Mutation_p.E118K|MYST2_uc010wmf.1_5'UTR|MYST2_uc010wmg.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	304					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCTGACAAGCGAGTATGACTT	0.463		NaN											0	0	0	0.00499	0	14	95									
ANKFN1	162282	broad.mit.edu	37	17	54450013	54450013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54450013G>T	uc002iun.1	+	6	652	c.617G>T	c.(616-618)AGC>ATC	p.S206I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	206	Potential.									large_intestine(1)|ovary(1)	2						TTAGTTGTCAGCCTGGAAAGC	0.463		NaN											1	0	1.77063e-15	0.005443	2.10263e-15	27	103									
TRIM25	7706	broad.mit.edu	37	17	54991298	54991298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54991298C>T	uc002iut.2	-	1	112	c.52G>A	c.(52-54)GAG>AAG	p.E18K	TRIM25_uc010dcj.2_5'UTR	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	18	RING-type.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					TTGAAGGGCTCCAGGCAGATG	0.682		NaN											0	0	0	0.009096	0	4	13									
MOCOS	55034	broad.mit.edu	37	18	33795828	33795828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:33795828G>A	uc002kzq.3	+	8	1708	c.1685G>A	c.(1684-1686)AGA>AAA	p.R562K		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	562					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GATGTCGCCAGAACCCAGCCG	0.552		NaN											0	0	0	0.001168	0	5	78									
TCEB3C	162699	broad.mit.edu	37	18	44555115	44555115	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:44555115G>A	uc010xdb.1	-	1	1335	c.1099C>T	c.(1099-1101)CTG>TTG	p.L367L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	367	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						CACCCTTCCAGAACGGGTTCA	0.607		NaN											0	0	0	0.006122	0	12	788									
C18orf54	162681	broad.mit.edu	37	18	51900620	51900620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:51900620G>A	uc002lfn.3	+	7	1128	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	C18orf54_uc002lfo.3_Missense_Mutation_p.E499K	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	338						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACAGTTGAAGGAAAGTATGAT	0.244		NaN											0	0	0	0.009096	0	3	43									
CDH20	28316	broad.mit.edu	37	18	59166706	59166706	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:59166706C>T	uc010dps.1	+	2	546	c.534C>T	c.(532-534)TCC>TCT	p.S178S	CDH20_uc002lif.2_Silent_p.S172S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CAGAAATGTCCCCTGTGGGTA	0.378		NaN											0	0	0	0.001855	0	12	39									
MUC16	94025	broad.mit.edu	37	19	9090712	9090712	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:9090712T>C	uc002mkp.2	-	1	1307	c.1103A>G	c.(1102-1104)CAT>CGT	p.H368R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	368	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGCGAAGGCATGGAAGGTAAG	0.502		NaN											0	0	0	0.010729	0	11	34									
SMARCA4	6597	broad.mit.edu	37	19	11094864	11094864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:11094864C>T	uc002mqf.3	+	2	321	c.37C>T	c.(37-39)CGG>TGG	p.R13W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R13W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R13W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqe.2_Missense_Mutation_p.R13W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	13	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGAACTCCTCGGCCAGGTCC	0.687		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.00245	0	13	56									
PLVAP	83483	broad.mit.edu	37	19	17476167	17476167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:17476167C>G	uc002ngk.1	-	3	1157	c.1107G>C	c.(1105-1107)AAG>AAC	p.K369N		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	369	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCGCCTCCCTCTTCTTCTCTT	0.617		NaN											0	0	0	0.004672	0	3	101									
GDF15	9518	broad.mit.edu	37	19	18499744	18499744	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:18499744G>C	uc002niv.2	+	2	958	c.926G>C	c.(925-927)TGA>TCA	p.*309S		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	309					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CACTGCATATGAGCAGTCCTG	0.572		NaN									OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	10	78									
GATAD2A	54815	broad.mit.edu	37	19	19613328	19613328	+	Silent	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:19613328C>A	uc010xqt.1	+	11	2076	c.1764C>A	c.(1762-1764)CTC>CTA	p.L588L	GATAD2A_uc010xqu.1_Silent_p.L217L|GATAD2A_uc010xqv.1_Silent_p.L608L|GATAD2A_uc010xqw.1_Silent_p.L391L	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	588					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGACGCCCCTCAGCACAGGTG	0.637		NaN											1	0	3.45872e-05	0.004007	3.84302e-05	16	86									
ZNF99	7652	broad.mit.edu	37	19	22939368	22939368	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:22939368T>C	uc010xrh.1	-	7	2803	c.2803A>G	c.(2803-2805)AAA>GAA	p.K935E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTGATTTATGTTTAGTA	0.373		NaN											0	0	0	0.004007	0	15	38									
SCGBL	284402	broad.mit.edu	37	19	35085106	35085106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35085106C>T	uc002nvn.2	-	2	242	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	74						extracellular region	binding				0						GCAAATCTTTCTGTCACGGAG	0.542		NaN											0	0	0	0.008871	0	17	175									
RSPH6A	81492	broad.mit.edu	37	19	46307611	46307611	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:46307611C>T	uc002pdm.2	-	3	1695	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	RSPH6A_uc002pdl.2_Missense_Mutation_p.D254N	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	518	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						TCGTAGGAGTCGCGCCCAGCA	0.647		NaN											0	0	0	0.013537	0	12	88									
SPHK2	56848	broad.mit.edu	37	19	49132875	49132875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:49132875G>A	uc002pjr.2	+	7	2176	c.1810G>A	c.(1810-1812)GCG>ACG	p.A604T	SPHK2_uc010xzt.1_Missense_Mutation_p.A545T|SPHK2_uc002pjs.2_Missense_Mutation_p.A604T|SPHK2_uc002pjt.2_Missense_Mutation_p.A398T|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.A568T|SPHK2_uc002pjw.2_Missense_Mutation_p.A666T	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	604					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGCTACGCCGCGGCCCGTGC	0.687		NaN											0	0	0	0.001168	0	4	10									
KLK10	5655	broad.mit.edu	37	19	51522384	51522384	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:51522384C>T	uc002puy.2	-	2	84	c.3G>A	c.(1-3)ATG>ATA	p.M1I	KLK10_uc002puz.2_Missense_Mutation_p.M1I|KLK10_uc002pva.2_Missense_Mutation_p.M1I	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	1					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGGAGCTCTCATGGCCAGGA	0.687		NaN											0	0	0	0.009096	0	4	16									
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:56466505G>T	uc002qmh.2	+	3	1152	c.1081G>T	c.(1081-1083)GAA>TAA	p.E361*	NLRP8_uc010etg.2_Nonsense_Mutation_p.E361*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463		NaN											1	0	5.35356e-11	0.00278	6.27886e-11	25	56									
C2orf28	51374	broad.mit.edu	37	2	27439745	27439745	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:27439745C>T	uc002rjf.2	+	7	957	c.784C>T	c.(784-786)CTG>TTG	p.L262L	C2orf28_uc002rjg.2_Silent_p.L149L|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	207	Helical; (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGATTCTGGGAGCCAC	0.502		NaN											0	0	0	0.005524	0	33	65									
SRD5A2	6716	broad.mit.edu	37	2	31754425	31754425	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:31754425G>T	uc002rnw.1	-	5	721	c.650C>A	c.(649-651)GCA>GAA	p.A217E		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	217	Helical; (Potential).				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGAGAAAAATGCAAATGCAAG	0.458		NaN											1	0	1.5739e-10	0.004007	1.8346e-10	16	25									
PCBP1	5093	broad.mit.edu	37	2	70314888	70314888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:70314888G>A	uc002sgf.2	+	1	304	c.13G>A	c.(13-15)GTG>ATG	p.V5M	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	5					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						GGATGCCGGTGTGACTGAAAG	0.587		NaN											0	0	0	0.013537	0	10	63									
ANKRD36	375248	broad.mit.edu	37	2	97854837	97854837	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:97854837G>A	uc010yva.1	+	33	2401	c.2157G>A	c.(2155-2157)AAG>AAA	p.K719K	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Intron|ANKRD36_uc002sxq.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	719											0						CTTCTCAGAAGCAACCAGCCT	0.308		NaN											0	0	0	0.004672	0	3	13									
DNAH7	56171	broad.mit.edu	37	2	196664028	196664028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:196664028C>T	uc002utj.3	-	55	10446	c.10345G>A	c.(10345-10347)GAT>AAT	p.D3449N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3449	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACCTGGTCATCAGCAAATTTT	0.388		NaN											0	0	0	0.012319	0	21	90									
SPEG	10290	broad.mit.edu	37	2	220337647	220337647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:220337647G>A	uc010fwg.2	+	16	3976	c.3976G>A	c.(3976-3978)GTG>ATG	p.V1326M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1326	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCACCAGGTGCTGGGCTC	0.662		NaN											0	0	0	0.00278	0	21	15									
FARSB	10056	broad.mit.edu	37	2	223464733	223464733	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:223464733A>G	uc002vne.1	-	16	1567	c.1532T>C	c.(1531-1533)ATT>ACT	p.I511T	FARSB_uc010zlq.1_Missense_Mutation_p.I531T|FARSB_uc002vnf.1_Missense_Mutation_p.I412T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	511					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CAGCCCATGAATGATCTCAAA	0.433		NaN											0	0	0	0.00278	0	24	67									
C20orf141	128653	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:2795885C>T	uc010gat.2	+	2	138	c.55C>T	c.(55-57)CCT>TCT	p.P19S	C20orf141_uc002wgv.1_Missense_Mutation_p.P19S|C20orf141_uc002wgw.2_Missense_Mutation_p.P19S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	19						integral to membrane					0						GATCCCAGTTCCTCCAAGGGG	0.617		NaN											0	0	0	0.004482	0	9	156									
ZHX3	23051	broad.mit.edu	37	20	39833262	39833262	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:39833262C>T	uc002xjs.1	-	3	673	c.295G>A	c.(295-297)GAG>AAG	p.E99K	ZHX3_uc002xjq.1_Missense_Mutation_p.E99K|ZHX3_uc002xjr.1_Missense_Mutation_p.E99K|ZHX3_uc002xjt.1_Missense_Mutation_p.E99K|ZHX3_uc002xju.1_Missense_Mutation_p.E99K|ZHX3_uc002xjv.1_Missense_Mutation_p.E99K|ZHX3_uc002xjw.1_Missense_Mutation_p.E99K|ZHX3_uc010ggg.1_Missense_Mutation_p.E99K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	99	Required for nuclear localization.|C2H2-type 1.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TCTGTGTGCTCTGAGTTCATA	0.443		NaN											0	0	0	0.001168	0	5	136									
COL6A1	1291	broad.mit.edu	37	21	47423837	47423837	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr21:47423837C>T	uc002zhu.1	+	35	3099	c.2997C>T	c.(2995-2997)GGC>GGT	p.G999G	COL6A1_uc010gqd.1_Silent_p.G330G|COL6A1_uc002zhv.1_Silent_p.G330G|COL6A1_uc002zhw.1_Silent_p.G93G	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	999	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCCTACGGCGAGAGCCACC	0.667		NaN											0	0	0	0.010729	0	11	102									
CNTN4	152330	broad.mit.edu	37	3	3078912	3078912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:3078912G>C	uc003bpc.2	+	17	2213	c.1992G>C	c.(1990-1992)TTG>TTC	p.L664F	CNTN4_uc003bpb.1_Missense_Mutation_p.L335F|CNTN4_uc003bpd.1_Missense_Mutation_p.L664F|CNTN4_uc003bpe.2_Missense_Mutation_p.L336F|CNTN4_uc003bpf.2_Missense_Mutation_p.L335F|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	664	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGTGGGTTTGAACCCTTGGG	0.502		NaN											0	0	0	0.010729	0	12	293									
LMCD1	29995	broad.mit.edu	37	3	8590590	8590590	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:8590590G>A	uc003bqq.2	+	4	837	c.723_splice	c.e4+1	p.Y241_splice	LMCD1_uc011atd.1_Splice_Site_p.Y168_splice|LMCD1_uc011ate.1_Splice_Site_p.Y129_splice|LMCD1_uc011atf.1_Splice_Site_p.Y168_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGTGGAATACGTAAGTTTCTC	0.572		NaN											0	0	0	0.001168	0	6	10									
RBMS3	27303	broad.mit.edu	37	3	30032585	30032585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:30032585G>A	uc003cel.2	+	14	1422	c.1192G>A	c.(1192-1194)GAT>AAT	p.D398N	RBMS3_uc003cek.2_Missense_Mutation_p.D382N|RBMS3_uc010hfq.2_Missense_Mutation_p.D395N|RBMS3_uc003cem.2_Missense_Mutation_p.D380N|RBMS3_uc010hfr.2_Missense_Mutation_p.D382N	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	398						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TGTTGTTGCTGATACCTCTCC	0.488		NaN											0	0	0	0.009096	0	4	63									
ADAMTS9	56999	broad.mit.edu	37	3	64589991	64589991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:64589991G>T	uc003dmg.2	-	24	3523	c.3491C>A	c.(3490-3492)TCA>TAA	p.S1164*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.S1136*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.S993*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.S75*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1164	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGATGACATGATGGTAATTC	0.458		NaN											1	0	4.96729e-08	0.008871	5.65141e-08	16	73									
NEK11	79858	broad.mit.edu	37	3	130828651	130828651	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:130828651G>T	uc003eny.2	+	5	667	c.341G>T	c.(340-342)CGA>CTA	p.R114L	NEK11_uc003enx.2_Missense_Mutation_p.R114L|NEK11_uc003eoa.2_Missense_Mutation_p.R114L|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.R114L|NEK11_uc003enw.1_Missense_Mutation_p.R114L|NEK11_uc011blm.1_Missense_Mutation_p.R114L|NEK11_uc010hto.1_5'UTR	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	114	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						TTTCAGGGCCGAGATCTGGAC	0.333		NaN											1	0	7.03913e-09	0.013537	8.10566e-09	12	96									
SMC4	10051	broad.mit.edu	37	3	160137215	160137215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:160137215C>T	uc003fdh.2	+	12	1854	c.1741C>T	c.(1741-1743)CAA>TAA	p.Q581*	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Nonsense_Mutation_p.Q345*|SMC4_uc003fdi.2_Nonsense_Mutation_p.Q556*|SMC4_uc003fdj.2_Nonsense_Mutation_p.Q581*|SMC4_uc010hwd.2_Nonsense_Mutation_p.Q581*|SMC4_uc003fdl.2_Nonsense_Mutation_p.Q284*	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	581	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATCTCTTTCAAAAAGTTGA	0.323		NaN											0	0	0	0.001168	0	5	70									
OTOP1	133060	broad.mit.edu	37	4	4190623	4190623	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:4190623G>A	uc003ghp.1	-	6	1776	c.1746C>T	c.(1744-1746)CCC>CCT	p.P582P		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAATTATCCAGGGTTCAAAGC	0.463		NaN											0	0	0	0.008361	0	16	121									
ATP10D	57205	broad.mit.edu	37	4	47584075	47584075	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:47584075G>A	uc003gxk.1	+	21	3911	c.3747G>A	c.(3745-3747)AAG>AAA	p.K1249K	ATP10D_uc003gxl.1_Silent_p.K497K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1249	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TTGAAAGCAAGAGTTTGGTGA	0.448		NaN											0	0	0	0.00499	0	16	125									
LRBA	987	broad.mit.edu	37	4	151729481	151729481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:151729481G>C	uc010ipj.2	-	32	5849	c.5375C>G	c.(5374-5376)TCA>TGA	p.S1792*	LRBA_uc003ilt.3_Nonsense_Mutation_p.S451*|LRBA_uc003ilu.3_Nonsense_Mutation_p.S1792*	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1792						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCTCATATTTGAAACCGGATC	0.279		NaN											0	0	0	0.007413	0	18	50									
SH3D19	152503	broad.mit.edu	37	4	152065413	152065413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152065413C>T	uc010ipl.1	-	12	2360	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K	SH3D19_uc003imb.2_Intron|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Intron|SH3D19_uc010ipm.2_Intron	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	424	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACAATATCTTCATTGGCAATT	0.363		NaN											0	0	0	0.00245	0	14	183									
SH3D19	152503	broad.mit.edu	37	4	152086849	152086849	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152086849C>T	uc010ipl.1	-	8	1785	c.695_splice	c.e8-1	p.D232_splice	SH3D19_uc003imb.2_Missense_Mutation_p.D10N|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Splice_Site_p.D232_splice|SH3D19_uc010ipm.2_Splice_Site_p.D232_splice	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAAAGGGATCTAATGAAAAA	0.393		NaN											0	0	0	0.008291	0	11	87									
CDH12	1010	broad.mit.edu	37	5	21975425	21975425	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:21975425C>A	uc010iuc.2	-	3	759	c.301G>T	c.(301-303)GTT>TTT	p.V101F	CDH12_uc011cno.1_Missense_Mutation_p.V101F|CDH12_uc003jgk.2_Missense_Mutation_p.V101F	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	101	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						ATGGTAAAAACGGTGCCAGCG	0.433		NaN								HNSCC(59;0.17)			1	0	5.18039e-06	0.00308	5.78985e-06	8	128									
RXFP3	51289	broad.mit.edu	37	5	33937955	33937955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:33937955G>A	uc003jic.1	+	1	1467	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	370	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AGGTATACGCGTTCCCTGTGA	0.617		NaN											0	0	0	0.003954	0	23	104									
GAPT	202309	broad.mit.edu	37	5	57790716	57790716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:57790716C>G	uc003jro.1	+	3	747	c.353C>G	c.(352-354)TCT>TGT	p.S118C		NM_152687	NP_689900	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	118					B cell activation	integral to membrane|plasma membrane					0						ACAGGGCAGTCTAATTTCGAG	0.398		NaN											0	0	0	0.003163	0	15	99									
PDE4D	5144	broad.mit.edu	37	5	58270597	58270597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:58270597G>C	uc003jsa.2	-	15	2496	c.2324C>G	c.(2323-2325)TCT>TGT	p.S775C	PDE4D_uc003jrx.2_Missense_Mutation_p.S639C|PDE4D_uc003jry.2_Missense_Mutation_p.S473C|PDE4D_uc003jrz.2_Missense_Mutation_p.S711C|PDE4D_uc003jsb.2_Missense_Mutation_p.S714C|PDE4D_uc003jrt.2_Missense_Mutation_p.S473C|PDE4D_uc003jru.2_Missense_Mutation_p.S551C|PDE4D_uc003jrv.2_Missense_Mutation_p.S645C|PDE4D_uc003jrw.2_Missense_Mutation_p.S653C|PDE4D_uc003jrs.2_Missense_Mutation_p.S484C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	775					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATTTCAGTAGACTCTGAGTC	0.488		NaN											0	0	0	0.001168	0	6	362									
MAST4	375449	broad.mit.edu	37	5	66459603	66459603	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:66459603G>A	uc003jut.1	+	28	4097	c.4029G>A	c.(4027-4029)CTG>CTA	p.L1343L	MAST4_uc003juw.2_Silent_p.L1271L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1535						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGACAAGCTGAAGGCCAAGG	0.607		NaN											0	0	0	0.004672	0	3	11									
CDK7	1022	broad.mit.edu	37	5	68548275	68548275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:68548275G>C	uc003jvs.3	+	3	338	c.157G>C	c.(157-159)GAT>CAT	p.D53H	CDK7_uc010ixd.1_Missense_Mutation_p.D53H|CDK7_uc003jvt.3_Missense_Mutation_p.D12H|CDK7_uc003jvu.3_5'UTR	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	53	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGAAGCTAAAGATGGTAAGTA	0.209		NaN						NER					0	0	0	0.004672	0	3	84									
OTP	23440	broad.mit.edu	37	5	76932777	76932777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:76932777G>T	uc003kfg.2	-	2	464	c.316C>A	c.(316-318)CGC>AGC	p.R106S		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	106	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTCCGGTGGCGCTTCTGCTTC	0.667		NaN											1	0	9.35349e-44	0.01441	1.13195e-43	76	83									
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139914968	139914968	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:139914968C>G	uc003lfs.1	+	30	6996	c.6872C>G	c.(6871-6873)TCA>TGA	p.S2291*	ANKHD1_uc003lfr.2_Nonsense_Mutation_p.S2291*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.S1030*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.S929*|ANKHD1_uc010jfl.2_Intron|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.S428*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2291						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGACCCATCAGGCAGCTCC	0.473		NaN											0	0	0	0.013537	0	10	162									
PCDHA11	56138	broad.mit.edu	37	5	140250655	140250655	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:140250655C>T	uc003lia.2	+	1	2825	c.1967C>T	c.(1966-1968)CCG>CTG	p.P656L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P656L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	656	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCGGCGCTGACG	0.677		NaN											0	0	0	0.010729	0	12	68									
CSF1R	1436	broad.mit.edu	37	5	149434896	149434896	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149434896A>G	uc003lrl.2	-	19	2753	c.2558T>C	c.(2557-2559)CTG>CCG	p.L853P	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L853P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	853	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTAGGGATTCAGCCCTGCAAA	0.507		NaN											0	0	0	0.004672	0	3	99									
PDGFRB	5159	broad.mit.edu	37	5	149513181	149513181	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149513181T>C	uc003lro.2	-	6	1371	c.902A>G	c.(901-903)CAG>CGG	p.Q301R	PDGFRB_uc010jhd.2_Missense_Mutation_p.Q140R|PDGFRB_uc011dcg.1_Missense_Mutation_p.Q301R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	301	Extracellular (Potential).|Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTTCATCCTGATGGTCATT	0.557		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								0	0	0	0.001984	0	5	319									
IL12B	3593	broad.mit.edu	37	5	158750185	158750185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:158750185C>G	uc003lxr.1	-	3	283	c.241G>C	c.(241-243)GAG>CAG	p.E81Q		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	81	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	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)			TCTCCAAACTCTTTGACTTGG	0.517		NaN											0	0	0	0.004672	0	3	61									
TFAP2A	7020	broad.mit.edu	37	6	10410338	10410338	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:10410338C>T	uc003myr.2	-	2	528	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	TFAP2A_uc003myq.2_Silent_p.Q86Q|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.Q92Q|TFAP2A_uc003myt.2_Silent_p.Q88Q|TFAP2A_uc003myu.1_Silent_p.Q92Q|TFAP2A_uc003myv.1_Silent_p.Q78Q|TFAP2A_uc011dii.1_Silent_p.Q88Q|uc003myw.2_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	92	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGCCTGGGTGCTGCGGCTGCG	0.692		NaN											0	0	0	0.010729	0	10	61									
DDR1	780	broad.mit.edu	37	6	30862337	30862337	+	Missense_Mutation	SNP	G	G	A	rs145788270		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:30862337G>A	uc003nrr.2	+	12	1661	c.1402G>A	c.(1402-1404)GAC>AAC	p.D468N	DDR1_uc010jse.2_Missense_Mutation_p.D468N|DDR1_uc003nrq.2_Missense_Mutation_p.D468N|DDR1_uc003nrs.2_Missense_Mutation_p.D468N|DDR1_uc003nrt.2_Missense_Mutation_p.D468N|DDR1_uc011dms.1_Missense_Mutation_p.D486N|DDR1_uc003nru.2_Missense_Mutation_p.D468N|DDR1_uc003nrv.2_Missense_Mutation_p.D468N|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	468	Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TGTCCCTGGGGACACTATCCT	0.627		NaN											0	0	0	0.001168	0	6	101									
C6orf81	221481	broad.mit.edu	37	6	35716341	35716341	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:35716341C>G	uc003ola.2	+	6	825	c.798C>G	c.(796-798)TTC>TTG	p.F266L	C6orf81_uc003olb.1_Intron	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	239							binding			ovary(1)	1						TAAACCTGTTCCAGCCCACAC	0.488		NaN											0	0	0	0.001984	0	6	61									
TDRD6	221400	broad.mit.edu	37	6	46660917	46660917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:46660917G>C	uc003oyj.2	+	1	5052	c.5052G>C	c.(5050-5052)TTG>TTC	p.L1684F	TDRD6_uc010jze.2_Missense_Mutation_p.L1678F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303		NaN											0	0	0	0.000602	0	5	34									
COL19A1	1310	broad.mit.edu	37	6	70909320	70909320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:70909320G>A	uc003pfc.1	+	49	3220	c.3103G>A	c.(3103-3105)GCT>ACT	p.A1035T		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1035					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						AGAGAGGATGGCTGTATTCCT	0.413		NaN											0	0	0	0.003163	0	16	38									
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:123332247C>A	uc003pzi.1	+	3	1376	c.507C>A	c.(505-507)TTC>TTA	p.F169L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACTTCACTTTCAAGCAAGCCT	0.413		NaN											1	0	0.000274275	0.004482	0.000302978	9	58									
LAMA2	3908	broad.mit.edu	37	6	129691064	129691064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:129691064G>A	uc003qbn.2	+	34	4993	c.4888G>A	c.(4888-4890)GAG>AAG	p.E1630K	LAMA2_uc003qbo.2_Missense_Mutation_p.E1630K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1630	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCGGGCCCCAGAGAGGCTTAT	0.458		NaN											0	0	0	0.012319	0	20	50									
TAAR1	134864	broad.mit.edu	37	6	132966336	132966336	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:132966336G>T	uc003qdm.1	-	1	807	c.807C>A	c.(805-807)ATC>ATA	p.I269I		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	269	Helical; Name=6; (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGACTGTACAGATAAAGAAAG	0.368		NaN											1	0	1.64293e-13	0.00333	1.93887e-13	24	33									
MAD1L1	8379	broad.mit.edu	37	7	2259077	2259077	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:2259077C>T	uc003slh.1	-	6	752	c.486G>A	c.(484-486)CTG>CTA	p.L162L	MAD1L1_uc003slf.1_Silent_p.L162L|MAD1L1_uc003slg.1_Silent_p.L162L|MAD1L1_uc010ksh.1_Silent_p.L162L|MAD1L1_uc003sli.1_Silent_p.L70L|MAD1L1_uc010ksi.1_Silent_p.L115L|MAD1L1_uc010ksj.2_Silent_p.L162L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	162	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCTCCCCTTCAGTGCGTTGA	0.602		NaN											0	0	0	0.000602	0	5	26									
TSGA14	95681	broad.mit.edu	37	7	130039926	130039926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:130039926C>G	uc003vpz.2	-	10	974	c.927G>C	c.(925-927)AAG>AAC	p.K309N	TSGA14_uc003vpy.2_Missense_Mutation_p.K71N|TSGA14_uc010lmf.2_Missense_Mutation_p.K106N|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	309					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					AATATTCTATCTTTTTTAAGT	0.453		NaN											0	0	0	0.01441	0	76	107									
TAS2R5	54429	broad.mit.edu	37	7	141490167	141490167	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:141490167G>A	uc003vwr.1	+	1	151	c.6G>A	c.(4-6)CTG>CTA	p.L2L		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	2	Helical; Name=1; (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					CAGCCATGCTGAGCGCTGGCC	0.512		NaN											0	0	0	0.000602	0	4	112									
TRPV5	56302	broad.mit.edu	37	7	142605800	142605800	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:142605800C>T	uc003wby.1	-	15	2334	c.2070G>A	c.(2068-2070)CGG>CGA	p.R690R		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	690	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GGGACGCGGTCCGGGACAGGG	0.582		NaN											0	0	0	0.000602	0	5	105									
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:150417944C>T	uc003whq.2	+	3	939	c.852C>T	c.(850-852)GGC>GGT	p.G284G	GIMAP1_uc003whp.2_Silent_p.G292G	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284	Helical; Anchor for type IV membrane protein; (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687		NaN											0	0	0	0.009096	0	4	21									
MLL3	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:151864343G>A	uc003wla.2	-	42	9857	c.9638C>T	c.(9637-9639)TCA>TTA	p.S3213L	MLL3_uc003wkz.2_Missense_Mutation_p.S2274L|MLL3_uc003wky.2_Missense_Mutation_p.S722L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3213	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTTTAGCTGAAAGGGCCTT	0.443		NaN	N		medulloblastoma								0	0	0	0.008291	0	10	101									
USP17L2	377630	broad.mit.edu	37	8	11996072	11996072	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:11996072C>T	uc003wvc.1	-	1	198	c.198G>A	c.(196-198)AAG>AAA	p.K66K	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	66				K -> E (in Ref. 1; AAR91701).	apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						GAGGAAGCTTCTTCCTGGGAG	0.567		NaN											0	0	0	0.00308	0	8	94									
SLC7A2	6542	broad.mit.edu	37	8	17406258	17406258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:17406258C>T	uc011kyc.1	+	4	773	c.604C>T	c.(604-606)CTT>TTT	p.L202F	SLC7A2_uc011kyd.1_Missense_Mutation_p.L242F|SLC7A2_uc011kye.1_Missense_Mutation_p.L242F|SLC7A2_uc011kyf.1_Missense_Mutation_p.L202F	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	202	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATTCTCGTCCTTCTGTTTGT	0.368		NaN											0	0	0	0.001984	0	5	124									
NAT1	9	broad.mit.edu	37	8	18079981	18079981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:18079981A>G	uc010ltd.2	+	5	792	c.425A>G	c.(424-426)GAT>GGT	p.D142G	NAT1_uc003wyt.2_Missense_Mutation_p.D204G|NAT1_uc003wyu.2_Missense_Mutation_p.D142G|NAT1_uc003wyv.2_Missense_Mutation_p.D142G|NAT1_uc010ltc.2_Missense_Mutation_p.D142G|NAT1_uc003wys.2_Missense_Mutation_p.D204G|NAT1_uc003wyr.2_Missense_Mutation_p.D142G|NAT1_uc003wyq.2_Missense_Mutation_p.D142G|NAT1_uc011kyl.1_Missense_Mutation_p.D142G	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	142					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TCTGGGAAGGATCAGCCTCAG	0.473		NaN											0	0	0	0.009096	0	4	121									
NRG1	3084	broad.mit.edu	37	8	32616847	32616847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:32616847C>G	uc003xiv.2	+	10	1471	c.954C>G	c.(952-954)ATC>ATG	p.I318M	NRG1_uc011lbf.1_Missense_Mutation_p.I315M|NRG1_uc010lvo.2_Missense_Mutation_p.I315M|NRG1_uc003xiu.2_Missense_Mutation_p.I323M|NRG1_uc003xiw.2_Missense_Mutation_p.I315M|NRG1_uc003xit.2_Missense_Mutation_p.I318M|NRG1_uc010lvr.2_Missense_Mutation_p.I60M|NRG1_uc010lvs.2_Missense_Mutation_p.I60M|NRG1_uc010lvp.2_Missense_Mutation_p.I272M|NRG1_uc010lvq.2_Missense_Mutation_p.I255M|NRG1_uc011lbg.1_Missense_Mutation_p.I164M|NRG1_uc011lbh.1_Missense_Mutation_p.I161M|NRG1_uc003xja.2_Missense_Mutation_p.I129M	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	318	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAACGTCATCTCCAGTGAGC	0.403		NaN											0	0	0	0.00499	0	17	63									
PI15	51050	broad.mit.edu	37	8	75757469	75757469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:75757469G>A	uc003yal.2	+	4	678	c.499G>A	c.(499-501)GGT>AGT	p.G167S	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.G167S	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	167						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GAGATGTTTTGGTCCCATGTG	0.368		NaN											0	0	0	0.00278	0	19	97									
NBN	4683	broad.mit.edu	37	8	90993117	90993117	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:90993117C>T	uc003yej.1	-	4	435	c.325G>A	c.(325-327)GAG>AAG	p.E109K	NBN_uc003yei.1_Missense_Mutation_p.E27K|NBN_uc011lgb.1_Missense_Mutation_p.E109K	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	109	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGCTCATACTCTATTCTGTAA	0.328		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.000602	0	5	20									
LRP12	29967	broad.mit.edu	37	8	105503599	105503599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:105503599C>T	uc003yma.2	-	7	1977	c.1882G>A	c.(1882-1884)GTT>ATT	p.V628I	LRP12_uc003ymb.2_Missense_Mutation_p.V609I|LRP12_uc003ylz.2_Missense_Mutation_p.V34I	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	628	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGGGACAACCTCATCTCCA	0.428		NaN											0	0	0	0.003163	0	14	67									
ZFPM2	23414	broad.mit.edu	37	8	106573710	106573710	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:106573710G>A	uc003ymd.2	+	4	443	c.420_splice	c.e4+1	p.L140_splice		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAATTCTTTGGTATGTGGATA	0.408		NaN											0	0	0	0.010504	0	21	16									
FREM1	158326	broad.mit.edu	37	9	14746434	14746434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14746434C>T	uc003zlm.2	-	35	6761	c.6171G>A	c.(6169-6171)TGG>TGA	p.W2057*	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.W593*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2057					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGCTGGTGCCACCCGGCTG	0.493		NaN											0	0	0	0.009096	0	4	135									
FREM1	158326	broad.mit.edu	37	9	14808019	14808019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14808019G>A	uc003zlm.2	-	17	3597	c.3007C>T	c.(3007-3009)CCA>TCA	p.P1003S	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1003	CSPG 6.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGAAGTGGAACAGATGGA	0.463		NaN											0	0	0	0.008871	0	20	149									
TMEM215	401498	broad.mit.edu	37	9	32784282	32784282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:32784282G>A	uc003zri.3	+	2	466	c.101G>A	c.(100-102)GGG>GAG	p.G34E		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	34						integral to membrane					0						GGGATGAAAGGGGAGACTTTG	0.592		NaN											0	0	0	0.00278	0	25	64									
NFX1	4799	broad.mit.edu	37	9	33342807	33342807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:33342807G>A	uc003zsq.2	+	13	2240	c.2179G>A	c.(2179-2181)GAA>AAA	p.E727K	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.E727K|NFX1_uc003zso.2_Missense_Mutation_p.E727K|NFX1_uc003zsp.1_Missense_Mutation_p.E727K|NFX1_uc010mjr.1_Missense_Mutation_p.E728K|NFX1_uc003zsr.2_Missense_Mutation_p.E728K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	727	NF-X1-type 6.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCATAGGTGTGAAGAACCTTG	0.398		NaN											0	0	0	0.004007	0	14	29									
ODF2	4957	broad.mit.edu	37	9	131243909	131243909	+	Silent	SNP	G	G	A	rs150687097		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:131243909G>A	uc011mbd.1	+	9	1205	c.894G>A	c.(892-894)GCG>GCA	p.A298A	ODF2_uc011maz.1_Silent_p.A298A|ODF2_uc011mba.1_Silent_p.A83A|ODF2_uc010myb.2_Silent_p.A274A|ODF2_uc011mbb.1_Silent_p.A232A|ODF2_uc011mbc.1_Silent_p.A217A|ODF2_uc004bva.2_Silent_p.A251A|ODF2_uc004bvb.2_Silent_p.A274A|ODF2_uc011mbe.1_Silent_p.A293A|ODF2_uc004bvc.2_Silent_p.A274A|ODF2_uc010myc.2_Silent_p.A241A|ODF2_uc011mbf.1_Silent_p.A279A|ODF2_uc004bvd.3_Silent_p.A298A|ODF2_uc004bve.2_Silent_p.A279A	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	298	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AACGGCTGGCGGAGGCCGACT	0.483		NaN											0	0	0	0.000602	0	5	42									
ASMTL	8623	broad.mit.edu	37	X	1553955	1553955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:1553955G>A	uc004cpx.1	-	5	471	c.360C>T	c.(358-360)AGC>AGT	p.S120S	ASMTL_uc011mhe.1_Silent_p.S44S|ASMTL_uc004cpy.1_Silent_p.S104S|ASMTL_uc011mhf.1_Silent_p.S62S	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	120	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGTGAACACGCTGTGTTCTC	0.587		NaN											0	0	0	0.00308	0	6	96									
ARSD	414	broad.mit.edu	37	X	2828744	2828744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:2828744C>G	uc004cqy.2	-	7	1167	c.1091G>C	c.(1090-1092)AGA>ACA	p.R364T	ARSD_uc004cqz.1_Intron	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	364						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGTCCATCTCTTGCCTCTAA	0.443		NaN											0	0	0	0.009096	0	4	251									
DMD	1756	broad.mit.edu	37	X	32235111	32235111	+	Silent	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:32235111T>C	uc004dda.1	-	44	6604	c.6360A>G	c.(6358-6360)CTA>CTG	p.L2120L	DMD_uc004dcw.2_Silent_p.L776L|DMD_uc004dcx.2_Silent_p.L779L|DMD_uc004dcz.2_Silent_p.L1997L|DMD_uc004dcy.1_Silent_p.L2116L|DMD_uc004ddb.1_Silent_p.L2112L|DMD_uc010ngo.1_Silent_p.L29L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2120	Spectrin 15.				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)				CAGCTTCTGTTAGCCACTGAT	0.343		NaN											0	0	0	0.013537	0	13	19									
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:47030582G>T	uc004dhf.2	+	4	736	c.357G>T	c.(355-357)GAG>GAT	p.E119D	RBM10_uc004dhe.1_Missense_Mutation_p.E109D|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.E119D|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.E184D	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						aggaggaggaggatgaggagg	0.522		NaN											1	0	0.000602214	0.000602	0.000661392	5	38									
DGKK	139189	broad.mit.edu	37	X	50213512	50213512	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:50213512C>G	uc010njr.1	-	1	226	c.166G>C	c.(166-168)GAG>CAG	p.E56Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GGACAGGGCTCTGGTATGGGT	0.323		NaN											0	0	0	0.00499	0	18	101									
SMC1A	8243	broad.mit.edu	37	X	53436075	53436075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:53436075C>T	uc004dsg.2	-	9	1532	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	SMC1A_uc011moe.1_Missense_Mutation_p.R466H|SMC1A_uc011mof.1_Missense_Mutation_p.R254H	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	488	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						GCGGTCGATGCGGGCATCCCC	0.567		NaN											0	0	0	0.001168	0	4	93									
UBQLN2	29978	broad.mit.edu	37	X	56590917	56590917	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:56590917T>C	uc004dus.2	+	1	846	c.611T>C	c.(610-612)CTG>CCG	p.L204P	UBQLN2_uc011moq.1_Missense_Mutation_p.L204P	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	204						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						ATGAGGCAGCTCATTATGGCT	0.453		NaN											0	0	0	0.00623	0	40	43									
LAS1L	81887	broad.mit.edu	37	X	64749124	64749124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:64749124G>T	uc004dwa.1	-	6	886	c.814C>A	c.(814-816)CTG>ATG	p.L272M	LAS1L_uc004dwc.1_Missense_Mutation_p.L272M|LAS1L_uc004dwd.1_Missense_Mutation_p.L230M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	272						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GATACCAGCAGTTCTCGGGCT	0.463		NaN									OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	4.35082e-09	0.010504	5.04058e-09	20	33									
USP26	83844	broad.mit.edu	37	X	132160985	132160985	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:132160985C>T	uc010nrm.1	-	6	1734	c.1264G>A	c.(1264-1266)GCT>ACT	p.A422T	USP26_uc011mvf.1_Missense_Mutation_p.A422T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	422					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GGATCATCAGCAAAAACCTGT	0.373		NaN											0	0	0	0.00499	0	18	70									
TCHH	7062	broad.mit.edu	37	1	152081768	152081768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:152081768delT	uc001ezp.2	-	2	3925	c.3925delA	c.(3925-3927)AGGfs	p.R1309fs	TCHH_uc009wne.1_Frame_Shift_Del_p.R1309fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1309	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGCGCCTTTTGGCTTCC	0.547		NaN											NaN	NaN	NaN	NaN	NaN	7	544	---	---							
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:154917508_154917510delGGT	uc001ffr.2	-	11	2245_2247	c.2186_2188delACC	c.(2185-2190)CACCGG>CGG	p.H729del	PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64		NaN											NaN	NaN	NaN	NaN	NaN	7	254	---	---							
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35773520_35773522delCTC	uc002nyw.2	+	1	111_113	c.40_42delCTC	c.(40-42)CTCdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide preproprotein	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64		NaN											NaN	NaN	NaN	NaN	NaN	8	415	---	---							
PHF7	51533	broad.mit.edu	37	3	52456270	52456291	+	Frame_Shift_Del	DEL	TCTCAGACTTATATCAGCGCTA	TCTCAGACTTATATCAGCGCTA	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA	uc003ddy.2	+	9	1519_1540	c.713_734delTCTCAGACTTATATCAGCGCTA	c.(712-735)TTCTCAGACTTATATCAGCGCTATfs	p.F238fs	PHF7_uc003ddz.2_Intron	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	238_245						nucleus	zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCAGGGGCTTTCTCAGACTTATATCAGCGCTATCAGCACTGT	0.495		NaN											NaN	NaN	NaN	NaN	NaN	9	129	---	---							
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:36651987_36651988insT	uc003omm.3	+	2	231_232	c.109_110insT	c.(109-111)CTAfs	p.L37fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L71fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L37fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L37fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	37	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CTGTGATGCGCTAATGGCGGGC	0.663		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	12	46	---	---