Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
CELA2A	63036	broad.mit.edu	37	1	15789243	15789243	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:15789243C>T	uc001awk.2	+	4	269	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	81	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CCAGGACCTACCGCGTGGGGC	0.612		NaN											0	0	0	0.039052	0	43	81				
CNKSR1	10256	broad.mit.edu	37	1	26514993	26514993	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26514993C>T	uc001bln.3	+	18	1668	c.1610C>T	c.(1609-1611)TCG>TTG	p.S537L	CNKSR1_uc001blm.3_Missense_Mutation_p.S530L|CNKSR1_uc009vsd.2_Missense_Mutation_p.S272L|CNKSR1_uc009vse.2_Missense_Mutation_p.S272L|CNKSR1_uc001blo.2_Missense_Mutation_p.S272L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	537					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGCCTCGGTGAGTGGG	0.637		NaN											0	0	0	0.038147	0	7	13				
CNKSR1	10256	broad.mit.edu	37	1	26515960	26515960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26515960C>G	uc001bln.3	+	21	2142	c.2084C>G	c.(2083-2085)TCC>TGC	p.S695C	CNKSR1_uc001blm.3_Missense_Mutation_p.S688C|CNKSR1_uc009vsd.2_Missense_Mutation_p.S430C|CNKSR1_uc009vse.2_Missense_Mutation_p.S430C|CNKSR1_uc001blo.2_Missense_Mutation_p.S430C|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	695					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTCCCTGCCCTCT	0.642		NaN											0	0	0	0.11126	0	42	84				
FGR	2268	broad.mit.edu	37	1	27943478	27943478	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27943478C>G	uc001boj.2	-	5	718	c.572G>C	c.(571-573)AGA>ACA	p.R191T	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R191T|FGR_uc001bol.2_Missense_Mutation_p.R191T|FGR_uc001bom.2_Missense_Mutation_p.R191T	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	191	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCGCCTCTGGTCTGATC	0.557		NaN											0	0	0	0.048971	0	50	94				
BAI2	576	broad.mit.edu	37	1	32204223	32204223	+	Silent	SNP	C	C	T	rs140870509		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:32204223C>T	uc001btn.2	-	17	2964	c.2610G>A	c.(2608-2610)ACG>ACA	p.T870T	BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Silent_p.T512T|BAI2_uc010ogp.1_Silent_p.T803T|BAI2_uc010ogq.1_Silent_p.T870T|BAI2_uc001bto.2_Silent_p.T870T|BAI2_uc001btq.1_Silent_p.T803T	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	870	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T870T(1)		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)		AATGGGGATCCGTGGTCCCCT	0.632		NaN											0	0	0	0.047766	0	8	13				
GNL2	29889	broad.mit.edu	37	1	38032516	38032516	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:38032516C>G	uc001cbk.2	-	16	2299	c.2136G>C	c.(2134-2136)AAG>AAC	p.K712N		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	712					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				CATTGGTCTTCTTTTTGTTCC	0.388		NaN											0	0	0	0.048971	0	52	108				
DMBX1	127343	broad.mit.edu	37	1	46976774	46976774	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:46976774C>A	uc001cpx.2	+	3	531	c.516C>A	c.(514-516)GGC>GGA	p.G172G	DMBX1_uc001cpw.2_Silent_p.G167G	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	172					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTCTGCCTGGCAGCGACCCCC	0.662		NaN											1	0	1.36161e-19	0.069456	1.46477e-19	33	114				
HSPB11	51668	broad.mit.edu	37	1	54405716	54405716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:54405716C>T	uc001cwh.2	-	2	116	c.40G>A	c.(40-42)GAA>AAA	p.E14K	HSPB11_uc001cwi.1_Missense_Mutation_p.E14K	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	14					cell adhesion|response to stress						0						AAAATCACTTCGGACCCTTCA	0.328		NaN											0	0	0	0.038395	0	14	31				
LRRIQ3	127255	broad.mit.edu	37	1	74506961	74506961	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:74506961C>A	uc001dfy.3	-	7	1846	c.1654G>T	c.(1654-1656)GTT>TTT	p.V552F	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	552										ovary(2)	2						TTTTGCTTAACAATCAGGCTT	0.313		NaN											1	0	2.2171e-23	0.041601	2.4094e-23	32	45				
GTF2B	2959	broad.mit.edu	37	1	89323052	89323052	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:89323052G>A	uc001dmo.3	-	6	773	c.654C>T	c.(652-654)TTC>TTT	p.F218F		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GGTTGGAACAGAACCTGGACA	0.433		NaN											0	0	0	0.083992	0	26	50				
COL11A1	1301	broad.mit.edu	37	1	103488345	103488345	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:103488345C>G	uc001dul.2	-	8	1516	c.1198G>C	c.(1198-1200)GAA>CAA	p.E400Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E412Q|COL11A1_uc001dun.2_Missense_Mutation_p.E361Q|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	400	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAAATTCTTCATTAGGG	0.363		NaN											0	0	0	0.108266	0	28	81				
ADAR	103	broad.mit.edu	37	1	154562706	154562706	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:154562706C>G	uc001ffh.2	-	7	2650	c.2450G>C	c.(2449-2451)AGA>ACA	p.R817T	ADAR_uc001ffj.2_Intron|ADAR_uc001ffi.2_Intron|ADAR_uc001ffk.2_Missense_Mutation_p.R522T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	817					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGCATAGTTCTTCTGAGACT	0.552		NaN											0	0	0	0.074837	0	33	60				
SELP	6403	broad.mit.edu	37	1	169566333	169566333	+	Missense_Mutation	SNP	G	G	A	rs143148749		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:169566333G>A	uc001ggi.3	-	11	1852	c.1787C>T	c.(1786-1788)TCC>TTC	p.S596F	SELP_uc001ggh.2_Missense_Mutation_p.S431F|SELP_uc009wvr.2_Missense_Mutation_p.S596F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	596	Extracellular (Potential).|Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.S596T(1)		ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATGGCAGGTGGAGCCAACATT	0.498		NaN											0	0	0	0.030593	0	29	33				
CHIT1	1118	broad.mit.edu	37	1	203194936	203194936	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:203194936G>A	uc001gzn.2	-	3	214	c.118C>T	c.(118-120)CGC>TGC	p.R40C	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.R50C	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	40					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GGCAGGAAGCGAGCCTCCCCC	0.577		NaN											0	0	0	0.059317	0	32	52				
NFASC	23114	broad.mit.edu	37	1	204923365	204923365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:204923365C>T	uc001hbj.2	+	6	593	c.265C>T	c.(265-267)CGG>TGG	p.R89W	NFASC_uc001hbh.2_Missense_Mutation_p.R89W|NFASC_uc010pqz.1_Missense_Mutation_p.R83W|NFASC_uc010pra.1_Missense_Mutation_p.R83W|NFASC_uc001hbi.2_Missense_Mutation_p.R83W|NFASC_uc009xbg.1_Missense_Mutation_p.R156W|NFASC_uc010prb.1_Missense_Mutation_p.R83W|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	89	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAAGGACCCCCGGGTGTCCAT	0.602		NaN											0	0	0	0.049695	0	19	53				
ITIH2	3698	broad.mit.edu	37	10	7774363	7774363	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:7774363G>A	uc001ijs.2	+	14	1872	c.1710G>A	c.(1708-1710)TCG>TCA	p.S570S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		ovary(1)|pancreas(1)|skin(1)	3						ATTTTCTATCGAAAGACAAGC	0.483		NaN											0	0	0	0.09319	0	13	43				
TAF3	83860	broad.mit.edu	37	10	8056618	8056618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:8056618G>T	uc010qbd.1	+	7	2694	c.2694G>T	c.(2692-2694)ATG>ATT	p.M898I		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	898	PHD-type.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						TTGGAATCATGACTGCACCCC	0.448		NaN											1	0	6.4e-05	0.004672	6.46066e-05	3	18				
PTCHD3	374308	broad.mit.edu	37	10	27688159	27688159	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:27688159G>A	uc001itu.2	-	4	1486	c.1368C>T	c.(1366-1368)GTC>GTT	p.V456V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	456	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ACATGTCATCGACCCCAACAC	0.358		NaN											0	0	0	0.055883	0	18	30				
ADAMTS14	140766	broad.mit.edu	37	10	72517796	72517796	+	Missense_Mutation	SNP	G	G	A	rs146237817	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:72517796G>A	uc001jrh.2	+	20	3016	c.3016G>A	c.(3016-3018)GAG>AAG	p.E1006K	ADAMTS14_uc001jrg.2_Missense_Mutation_p.E1009K	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1006	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						CGGGCATTGCGAGGGGGATAG	0.667		NaN											0	0	0	0.021553	0	6	79				
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:75011600G>A	uc001jts.1	-	2	406	c.195C>T	c.(193-195)CTC>CTT	p.L65L	DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank	NM_016065	NP_057149	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16 precursor	65					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537		NaN											0	0	0	0.048971	0	50	113				
LIPF	8513	broad.mit.edu	37	10	90427424	90427424	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:90427424G>A	uc001kfg.1	+	3	370	c.204G>A	c.(202-204)AAG>AAA	p.K68K	LIPF_uc009xtk.2_Silent_p.K68K|LIPF_uc001kfh.1_Silent_p.K78K|LIPF_uc010qmt.1_Silent_p.K78K|LIPF_uc010qmu.1_Silent_p.K68K	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	68					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTTATGGGAAGAAAAATTCAG	0.214		NaN											0	0	0	0.108266	0	25	55				
DMBT1	1755	broad.mit.edu	37	10	124348479	124348479	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:124348479C>T	uc001lgk.1	+	17	1909	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	DMBT1_uc001lgl.1_Silent_p.A591A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A601A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	601					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTTTGGCCCTGAGGCTGG	0.542		NaN											0	0	0	0.047766	0	8	5				
MUC5B	727897	broad.mit.edu	37	11	1267503	1267503	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:1267503G>A	uc009ycr.1	+	49	11268	c.11142G>A	c.(11140-11142)ACG>ACA	p.T3714T	MUC5B_uc001ltb.2_Silent_p.T3134T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3131	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCGGGGACGACCTGGATCC	0.657		NaN											0	0	0	0.048971	0	58	134				
LGR4	55366	broad.mit.edu	37	11	27398722	27398722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:27398722G>T	uc001mrj.3	-	12	1577	c.1092C>A	c.(1090-1092)TGC>TGA	p.C364*	LGR4_uc001mrk.3_Nonsense_Mutation_p.C340*	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	364	Extracellular (Potential).|LRR 12.					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CCAGAGCATGGCAACCATTAA	0.308		NaN											1	0	5.77227e-19	0.037714	6.17836e-19	28	47				
TMX2	51075	broad.mit.edu	37	11	57505121	57505121	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:57505121G>A	uc001nlc.1	+	2	280	c.231G>A	c.(229-231)ATG>ATA	p.M77I	CTNND1_uc001nlf.1_5'UTR|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.M77I	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	77	Extracellular (Potential).				cell redox homeostasis	integral to membrane					0						CCATTGTGATGATGAAGAACC	0.433		NaN											0	0	0	0.024245	0	13	32				
CD5	921	broad.mit.edu	37	11	60892591	60892591	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:60892591C>A	uc009ynk.2	+	9	1470	c.1367C>A	c.(1366-1368)CCT>CAT	p.P456H		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	456	Cytoplasmic (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TACAGCCAACCTCCCAGGAAC	0.617		NaN											1	0	3.10358e-05	0.069288	3.14792e-05	22	39				
GDPD4	220032	broad.mit.edu	37	11	76944073	76944073	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944073G>A	uc001oyf.2	-	13	1637	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	462	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AGCTCACCATGAAGAAGTGAG	0.557		NaN											0	0	0	0.069456	0	13	43				
GDPD4	220032	broad.mit.edu	37	11	76944076	76944076	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944076G>A	uc001oyf.2	-	13	1634	c.1383C>T	c.(1381-1383)TTC>TTT	p.F461F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	461	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						TCACCATGAAGAAGTGAGGGT	0.547		NaN											0	0	0	0.074837	0	13	43				
GDPD4	220032	broad.mit.edu	37	11	76944087	76944087	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944087G>A	uc001oyf.2	-	13	1623	c.1372C>T	c.(1372-1374)CAC>TAC	p.H458Y		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	458	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AAGTGAGGGTGATCAAGCTGA	0.537		NaN											0	0	0	0.09836	0	18	43				
MMP8	4317	broad.mit.edu	37	11	102586120	102586120	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:102586120A>G	uc001phe.2	-	7	1050	c.951T>C	c.(949-951)TTT>TTC	p.F317F	MMP8_uc010rut.1_Silent_p.F252F|MMP8_uc010ruu.1_Silent_p.F294F	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	317	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATAGAGAAATAAAATTCATTT	0.383		NaN											0	0	0	0.0333	0	18	16				
RPH3A	22895	broad.mit.edu	37	12	113325677	113325677	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113325677G>A	uc010syl.1	+	17	1874	c.1512G>A	c.(1510-1512)CTG>CTA	p.L504L	RPH3A_uc001ttz.2_Silent_p.L504L|RPH3A_uc001tty.2_Silent_p.L500L|RPH3A_uc009zwe.1_Silent_p.L500L|RPH3A_uc010sym.1_Silent_p.L455L|RPH3A_uc001tua.2_Silent_p.L264L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	504					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCAAGAAACTGAAGCCCAACC	0.502		NaN											0	0	0	0.048971	0	63	198				
DTX1	1840	broad.mit.edu	37	12	113515459	113515459	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113515459C>T	uc001tuk.1	+	2	826	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	164	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCGCCAGAcgcgccggcgccg	0.527		NaN											0	0	0	0.038147	0	6	22				
SLC24A6	80024	broad.mit.edu	37	12	113742153	113742153	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113742153C>T	uc001tvc.2	-	15	1740	c.1530G>A	c.(1528-1530)CAG>CAA	p.Q510Q	SLC24A6_uc001tuz.2_Silent_p.Q215Q|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.Q248Q	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	510	Cytoplasmic (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						TTCGGGAGATCTGGAGCAGGC	0.502		NaN											0	0	0	0.048971	0	48	182				
NBEA	26960	broad.mit.edu	37	13	35731303	35731303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:35731303G>T	uc001uvb.2	+	22	2946	c.2740G>T	c.(2740-2742)GAA>TAA	p.E914*		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	914						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGATTACCGAAATGGTCTA	0.408		NaN											1	0	1.84765e-07	0.064281	1.89206e-07	37	76				
PCDH8	5100	broad.mit.edu	37	13	53421499	53421499	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:53421499G>A	uc001vhi.2	-	1	1276	c.1073C>T	c.(1072-1074)CCG>CTG	p.P358L	PCDH8_uc001vhj.2_Missense_Mutation_p.P358L	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	358	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGGCCAGCGGGGTGATGGC	0.761		NaN											0	0	0	0.047766	0	8	14				
KLF5	688	broad.mit.edu	37	13	73649881	73649881	+	Missense_Mutation	SNP	G	G	T	rs144543104		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649881G>T	uc001vje.2	+	4	1555	c.1231G>T	c.(1231-1233)GAC>TAC	p.D411Y	KLF5_uc001vjd.2_Missense_Mutation_p.D320Y	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	411	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAAGGCTGCGACTGGAGGTT	0.577		NaN											1	0	9.90819e-18	0.048971	1.04997e-17	54	137		Valid		
KLF5	688	broad.mit.edu	37	13	73649892	73649892	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649892C>T	uc001vje.2	+	4	1566	c.1242C>T	c.(1240-1242)TTC>TTT	p.F414F	KLF5_uc001vjd.2_Silent_p.F323F	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	414	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACTGGAGGTTCGCGCGATCGG	0.582		NaN											0	0	0	0.11126	0	43	108				
ABCC4	10257	broad.mit.edu	37	13	95813572	95813572	+	Missense_Mutation	SNP	C	C	T	rs146708960		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:95813572C>T	uc001vmd.3	-	19	2445	c.2326G>A	c.(2326-2328)GTT>ATT	p.V776I	ABCC4_uc010afk.2_Missense_Mutation_p.V729I|ABCC4_uc001vme.2_Missense_Mutation_p.V776I|ABCC4_uc010tih.1_Missense_Mutation_p.V701I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	776	ABC transmembrane type-1 2.|Helical; (Potential).		V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type).		platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAAAAAGAACGGTAGCTACA	0.358		NaN											0	0	0	0.058154	0	10	39				
COL4A1	1282	broad.mit.edu	37	13	110830437	110830437	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:110830437C>T	uc001vqw.3	-	32	2722	c.2600G>A	c.(2599-2601)GGG>GAG	p.G867E	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	867	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCAGGAGCCCCCTGCTGTCC	0.547		NaN											0	0	0	0.048971	0	50	109				
RNASE3	6037	broad.mit.edu	37	14	21359944	21359944	+	Silent	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:21359944G>T	uc001vyj.2	+	2	153	c.99G>T	c.(97-99)ACG>ACT	p.T33T		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	33					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CACAGTTTACGAGGGCTCAGT	0.507		NaN											1	0	3.70713e-34	0.048971	4.0702e-34	47	109				
C14orf21	161424	broad.mit.edu	37	14	24769970	24769970	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:24769970C>T	uc001wol.1	+	2	667	c.604C>T	c.(604-606)CAT>TAT	p.H202Y	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	202	Pumilio 2.						RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		TGGAGACACACATGGCAGCTT	0.527		NaN											0	0	0	0.048971	0	54	107				
ARHGAP5	394	broad.mit.edu	37	14	32561150	32561150	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:32561150G>C	uc001wrl.2	+	2	1514	c.1275G>C	c.(1273-1275)AAG>AAC	p.K425N	ARHGAP5_uc001wrm.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wrn.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	425					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCGAGAAGAGGAGGGTGG	0.393		NaN											0	0	0	0.069456	0	38	58				
PPM1A	5494	broad.mit.edu	37	14	60750068	60750068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:60750068C>T	uc010apn.2	+	3	1049	c.647C>T	c.(646-648)TCA>TTA	p.S216L	PPM1A_uc001xew.3_Missense_Mutation_p.S289L|PPM1A_uc001xex.3_Missense_Mutation_p.S216L|PPM1A_uc001xey.3_Missense_Mutation_p.S216L	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	216					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CAGCTTGTCTCACCAGAGCCT	0.443		NaN											0	0	0	0.048971	0	55	112				
ZFP36L1	677	broad.mit.edu	37	14	69256761	69256761	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:69256761T>C	uc001xkh.1	-	2	636	c.506A>G	c.(505-507)TAC>TGC	p.Y169C	ZFP36L1_uc001xki.1_Missense_Mutation_p.Y169C	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	169	C3H1-type 2.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCGGGGCCCGTAGGGGCAAAA	0.672		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.042209	0	38	83		Valid		
C14orf49	161176	broad.mit.edu	37	14	95884264	95884264	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:95884264G>A	uc001yei.3	-	17	2842	c.2827C>T	c.(2827-2829)CTG>TTG	p.L943L	C14orf49_uc010avi.2_Silent_p.L938L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	943	Helical; Anchor for type IV membrane protein; (Potential).|KASH.				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		ATTGGGagcaggaacagcagg	0.493		NaN											0	0	0	0.048971	0	47	74				
HHIPL1	84439	broad.mit.edu	37	14	100118593	100118593	+	Silent	SNP	C	C	T	rs142575301		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:100118593C>T	uc010avs.2	+	2	353	c.288C>T	c.(286-288)GAC>GAT	p.D96D	HHIPL1_uc001ygl.1_Silent_p.D96D	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	96					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				ACCTCTATGACGCCGAGGACC	0.522		NaN											0	0	0	0.099896	0	27	68				
UNC13C	440279	broad.mit.edu	37	15	54793159	54793159	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:54793159A>C	uc002ack.2	+	20	5284	c.5284A>C	c.(5284-5286)ATG>CTG	p.M1762L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1762	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTCACTTAATGAGAAGATT	0.368		NaN											0	0	0	0.045515	0	44	75				
TLN2	83660	broad.mit.edu	37	15	63128203	63128203	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63128203C>G	uc002alb.3	+	54	7305	c.7305C>G	c.(7303-7305)TCC>TCG	p.S2435S	TLN2_uc002alc.3_Silent_p.S828S|TLN2_uc010uic.1_Silent_p.S36S|uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2435	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TCGCCGCTTCCACGGCTCAGC	0.612		NaN											0	0	0	0.105934	0	14	25				
HERC1	8925	broad.mit.edu	37	15	63927026	63927026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63927026C>T	uc002amp.2	-	66	12624	c.12476G>A	c.(12475-12477)GGG>GAG	p.G4159E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4159	RCC1 11.				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						GTCACCATTCCCAAAGGTGAA	0.448		NaN											0	0	0	0.105934	0	14	18				
THSD4	79875	broad.mit.edu	37	15	72030322	72030322	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:72030322G>C	uc002atb.1	+	10	1961	c.1882G>C	c.(1882-1884)GAA>CAA	p.E628Q	THSD4_uc010ukg.1_Missense_Mutation_p.E268Q|THSD4_uc002ate.2_Missense_Mutation_p.E268Q	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	628						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGGGACAACAGAATGTTCCAC	0.587		NaN											0	0	0	0.055883	0	20	43				
NEO1	4756	broad.mit.edu	37	15	73428236	73428236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:73428236G>A	uc002avm.3	+	5	1025	c.883G>A	c.(883-885)GAA>AAA	p.E295K	NEO1_uc010ukx.1_Missense_Mutation_p.E295K|NEO1_uc010uky.1_Missense_Mutation_p.E295K|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	295	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ACACAGCTCTGAAAGATTGGT	0.338		NaN											0	0	0	0.02938	0	5	8				
SRRM2	23524	broad.mit.edu	37	16	2820448	2820448	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:2820448C>T	uc002crk.2	+	13	8666	c.8117C>T	c.(8116-8118)TCA>TTA	p.S2706L		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2706	Ser-rich.|Arg-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCCAGCCCTCACCACGGGAC	0.642		NaN											0	0	0	0.02938	0	7	12				
MEFV	4210	broad.mit.edu	37	16	3297033	3297033	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:3297033C>T	uc002cun.1	-	5	1610	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	524					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGTTCCCATTCTGACTGGCAC	0.617		NaN											0	0	0	0.048971	0	51	74				
TNRC6A	27327	broad.mit.edu	37	16	24826603	24826603	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:24826603C>G	uc002dmm.2	+	19	4922	c.4808C>G	c.(4807-4809)TCT>TGT	p.S1603C	TNRC6A_uc010bxs.2_Missense_Mutation_p.S1350C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1301C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1242C|TNRC6A_uc002dmp.2_Missense_Mutation_p.S204C|TNRC6A_uc002dmq.2_Missense_Mutation_p.S270C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1603					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTAACGGCTCTAGCAGTGTT	0.433		NaN											0	0	0	0.0918	0	26	34				
MYLK3	91807	broad.mit.edu	37	16	46744549	46744549	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46744549C>T	uc002eei.3	-	11	2383	c.2267G>A	c.(2266-2268)AGC>AAC	p.S756N	MYLK3_uc010vge.1_Missense_Mutation_p.S415N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	756	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGAAAGGTACCTCTTCTCTTT	0.532		NaN											0	0	0	0.045515	0	43	101				
MYLK3	91807	broad.mit.edu	37	16	46766181	46766181	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46766181C>A	uc002eei.3	-	4	1517	c.1401G>T	c.(1399-1401)CCG>CCT	p.P467P	MYLK3_uc010vge.1_Silent_p.P126P|MYLK3_uc002eej.1_Silent_p.P126P	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	467					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCTCTCACCGGAGCCCTGG	0.657		NaN											1	0	5.60225e-13	0.041601	5.84941e-13	32	61				
ZNF423	23090	broad.mit.edu	37	16	49671231	49671231	+	Missense_Mutation	SNP	T	T	A	rs114911915	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:49671231T>A	uc002efs.2	-	5	2130	c.1832A>T	c.(1831-1833)GAG>GTG	p.E611V	ZNF423_uc010vgn.1_Missense_Mutation_p.E494V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	611					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGAAGACACCTCCACATCGGA	0.547		NaN											0	0	0	0.048971	0	46	60				
PARD6A	50855	broad.mit.edu	37	16	67695399	67695399	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:67695399G>A	uc002ett.2	+	2	196	c.105G>A	c.(103-105)TCG>TCA	p.S35S	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S35S|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCGCGCTTCGGTGAGCGGCT	0.657		NaN											0	0	0	0.039052	0	38	87				
LDHD	197257	broad.mit.edu	37	16	75149486	75149487	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:75149486_75149487CC>TT	uc002fdm.2	-	2	191_192	c.144_145GG>AA	c.(142-147)GCGGTG>GCAATG	p.V49M	LDHD_uc002fdn.2_Missense_Mutation_p.V49M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	49							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						TCTCGGACCACCGCGGCAGTGG	0.649		NaN											0	0	0	0.004672	0	7	38				
RPL13	6137	broad.mit.edu	37	16	89629441	89629441	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:89629441G>T	uc002fnm.1	+	6	678	c.627G>T	c.(625-627)AAG>AAT	p.K209N	RPL13_uc010vpj.1_Missense_Mutation_p.K162N|RPL13_uc002fnn.1_Missense_Mutation_p.K209N|RPL13_uc002fno.1_3'UTR	NM_000977	NP_000968	P26373	RL13_HUMAN	ribosomal protein L13	209					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome				0		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		ATGTTGAAAAGAAAAAATAAA	0.557		NaN											1	0	2.10051e-16	0.09319	2.21489e-16	12	21				
RILP	83547	broad.mit.edu	37	17	1551226	1551226	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:1551226G>A	uc002ftd.2	-	6	1141	c.847C>T	c.(847-849)CCC>TCC	p.P283S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	283	Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGGCCGGGGACCCGGTGG	0.602		NaN											0	0	0	0.0918	0	25	36				
TP53	7157	broad.mit.edu	37	17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	rs1042522	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:7579472G>C	uc002gim.2	-	4	409	c.215C>G	c.(214-216)CCC>CGC	p.P72R	TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72	Interaction with WWOX.|Interaction with HRMT1L2.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGCCACGGGGGGAGCAGC	0.607		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.09319	0	12	141		Invalid		
GAS2L2	246176	broad.mit.edu	37	17	34073278	34073278	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:34073278C>T	uc002hjv.1	-	6	1266	c.1238G>A	c.(1237-1239)AGG>AAG	p.R413K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	413					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCCTTCCCCTGGGGAGTTC	0.597		NaN											0	0	0	0.048971	0	154	150				
STARD3	10948	broad.mit.edu	37	17	37809815	37809815	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:37809815G>A	uc002hsd.2	+	2	155	c.31G>A	c.(31-33)GAC>AAC	p.D11N	STARD3_uc010weg.1_Missense_Mutation_p.D11N|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.D11N|STARD3_uc010wei.1_Missense_Mutation_p.D11N|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	11	Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGACCCGAGACTTGGAGCG	0.716		NaN									OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.043863	0	16	74				
NSF	4905	broad.mit.edu	37	17	44827187	44827187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:44827187C>A	uc002iku.2	+	18	2061	c.1957C>A	c.(1957-1959)CAG>AAG	p.Q653K	NSF_uc010wke.1_Missense_Mutation_p.Q559K|NSF_uc010wkf.1_Missense_Mutation_p.Q559K|NSF_uc010wkg.1_Missense_Mutation_p.Q648K	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	653					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGATGTCCTTCAGGAGATGGA	0.448		NaN											1	0	6.00712e-18	0.050027	6.39759e-18	29	109				
COIL	8161	broad.mit.edu	37	17	55023818	55023818	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:55023818G>A	uc002iuu.2	-	5	1574	c.1543C>T	c.(1543-1545)CTT>TTT	p.L515F		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	515	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					AAGGATGAAAGAATTTCTATA	0.308		NaN											0	0	0	0.048971	0	47	161				
SMARCD2	6603	broad.mit.edu	37	17	61910950	61910950	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:61910950G>A	uc010deb.1	-	10	1631	c.1314C>T	c.(1312-1314)GTC>GTT	p.V438V	SMARCD2_uc010wpt.1_Silent_p.V390V|SMARCD2_uc010dea.1_Silent_p.V363V|SMARCD2_uc010dec.1_Silent_p.V417V	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						GGCCCACCTTGACATCAAGGG	0.577		NaN											0	0	0	0.045515	0	40	121				
ABCA8	10351	broad.mit.edu	37	17	66915581	66915581	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:66915581A>G	uc002jhp.2	-	13	1828	c.1649T>C	c.(1648-1650)ATG>ACG	p.M550T	ABCA8_uc002jhq.2_Missense_Mutation_p.M550T|ABCA8_uc010wqq.1_Missense_Mutation_p.M550T|ABCA8_uc010wqr.1_Missense_Mutation_p.M489T|ABCA8_uc002jhr.2_Missense_Mutation_p.M550T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	550	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TAGGTCAGCCATTTCTGAAAG	0.368		NaN											0	0	0	0.062417	0	19	82				
DCC	1630	broad.mit.edu	37	18	50985651	50985651	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:50985651C>A	uc002lfe.1	+	24	4029	c.3442C>A	c.(3442-3444)CTC>ATC	p.L1148I	DCC_uc010dpf.1_Missense_Mutation_p.L783I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1148	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGAAGGACCTCCGACCCCC	0.493		NaN											1	0	1.49552e-23	0.048971	1.63357e-23	70	27				
SERPINB11	89778	broad.mit.edu	37	18	61383320	61383320	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:61383320G>A	uc002ljk.3	+	6	471	c.409G>A	c.(409-411)GAT>AAT	p.D137N	SERPINB11_uc010xes.1_Intron|SERPINB11_uc010dqd.2_Missense_Mutation_p.D23N|SERPINB11_uc002ljj.3_Missense_Mutation_p.D23N|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	137					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				GCAAACTGTGGATTTTGAACA	0.343		NaN											0	0	0	0.049695	0	18	10				
POLRMT	5442	broad.mit.edu	37	19	619039	619039	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:619039G>A	uc002lpf.1	-	15	3281	c.3225C>T	c.(3223-3225)GGC>GGT	p.G1075G		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1075	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGCCCAGGGGTG	0.647		NaN											0	0	0	0.049695	0	20	21				
AP3D1	8943	broad.mit.edu	37	19	2110148	2110148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:2110148G>A	uc002luz.2	-	26	3288	c.3065C>T	c.(3064-3066)TCC>TTC	p.S1022F	AP3D1_uc010dsv.2_Missense_Mutation_p.S112F|AP3D1_uc002luy.2_Missense_Mutation_p.S981F|AP3D1_uc002lva.2_Missense_Mutation_p.S1084F	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1022					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAATGAAGGACAGGGTCCC	0.632		NaN											0	0	0	0.069288	0	21	42				
SAFB	6294	broad.mit.edu	37	19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:5668195G>A	uc002mcf.2	+	21	2694	c.2641G>A	c.(2641-2643)GGG>AGG	p.G881R	SAFB_uc002mcg.2_Missense_Mutation_p.G883R|SAFB_uc002mce.3_Missense_Mutation_p.G882R|SAFB_uc010xir.1_Missense_Mutation_p.G880R|SAFB_uc010xis.1_Missense_Mutation_p.G814R|SAFB_uc010xit.1_Missense_Mutation_p.G725R|SAFB_uc010xiu.1_Missense_Mutation_p.G682R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Interaction with SAFB2.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682		NaN											0	0	0	0.048971	0	46	78				
ICAM3	3385	broad.mit.edu	37	19	10445321	10445321	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:10445321G>C	uc002mob.2	-	5	1130	c.1075C>G	c.(1075-1077)CAA>GAA	p.Q359E	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.Q282E	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	359	Extracellular (Potential).|Ig-like C2-type 4.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTGAAGTTGAGCTGGCTGC	0.632		NaN											0	0	0	0.074837	0	32	67				
ZNF799	90576	broad.mit.edu	37	19	12491949	12491949	+	Missense_Mutation	SNP	T	T	C	rs11668955	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491949T>C	uc002mts.3	-	4	593	c.127A>G	c.(127-129)ACC>GCC	p.T43A				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TAACTGAAGGTTTTCCAAAAT	0.403		NaN											0	0	0	0.004672	0	3	24				
ZNF799	90576	broad.mit.edu	37	19	12491955	12491955	+	Missense_Mutation	SNP	A	A	C	rs11668074	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491955A>C	uc002mts.3	-	4	587	c.121T>G	c.(121-123)TGG>GGG	p.W41G				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AAGGTTTTCCAAAATTGTTTA	0.408		NaN											0	0	0	0.004672	0	3	20				
SLC5A5	6528	broad.mit.edu	37	19	17992856	17992856	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17992856A>T	uc002nhr.3	+	9	1493	c.1146A>T	c.(1144-1146)AAA>AAT	p.K382N		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	382	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CACCCAGGAAACTCGTGATTA	0.577		NaN											0	0	0	0.108266	0	28	52				
MAST3	23031	broad.mit.edu	37	19	18234408	18234408	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:18234408G>A	uc002nhz.3	+	7	489	c.489G>A	c.(487-489)GGG>GGA	p.G163G		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	163							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGCAACGGGGACCTTCGACA	0.602		NaN											0	0	0	0.014758	0	5	10				
PDCD2L	84306	broad.mit.edu	37	19	34895679	34895679	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:34895679C>T	uc002nvj.2	+	2	267	c.234C>T	c.(232-234)TTC>TTT	p.F78F		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	78						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCACGTGTTCGCGTGCGCCT	0.711		NaN											0	0	0	0.09319	0	10	10				
ZNF841	284371	broad.mit.edu	37	19	52568806	52568806	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:52568806G>A	uc002pyl.1	-	5	2533	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	ZNF841_uc010ydh.1_Missense_Mutation_p.R777C|ZNF841_uc010epk.1_Missense_Mutation_p.R353C	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	661	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGCCTGAGCGATAACGGAAG	0.428		NaN											0	0	0	0.020292	0	15	29				
LAIR1	3903	broad.mit.edu	37	19	54871634	54871634	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:54871634G>A	uc002qfk.1	-	4	720	c.410C>T	c.(409-411)TCA>TTA	p.S137L	LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S136L|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Missense_Mutation_p.S130L|LAIR1_uc002qfo.2_Missense_Mutation_p.S119L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	137	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGACCAGCTGAGGAGCCGGG	0.627		NaN											0	0	0	0.024245	0	12	30				
NLRP2	55655	broad.mit.edu	37	19	55512138	55512138	+	Missense_Mutation	SNP	G	G	C	rs144393067		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:55512138G>C	uc002qij.2	+	13	3147	c.3061G>C	c.(3061-3063)GAT>CAT	p.D1021H	NLRP2_uc010yfp.1_Missense_Mutation_p.D998H|NLRP2_uc010esn.2_Missense_Mutation_p.D997H|NLRP2_uc010eso.2_Missense_Mutation_p.D1018H|NLRP2_uc010esp.2_Missense_Mutation_p.D999H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1021	LRR 8.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTGAAAATCGATGACTTTAA	0.393		NaN											0	0	0	0.09836	0	36	53				
MAP4K3	8491	broad.mit.edu	37	2	39505628	39505628	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:39505628C>T	uc002rro.2	-	24	1806	c.1715_splice	c.e24-1	p.D572_splice	MAP4K3_uc002rrp.2_Splice_Site_p.D551_splice|MAP4K3_uc010yns.1_Splice_Site_p.D125_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				AAGTACTGATCTGAAATAAAA	0.254		NaN											0	0	0	0.045705	0	31	27				
KLRAQ1	129285	broad.mit.edu	37	2	48698230	48698230	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:48698230C>T	uc002rwm.2	+	10	1087	c.902C>T	c.(901-903)TCA>TTA	p.S301L	KLRAQ1_uc002rwi.1_Missense_Mutation_p.S301L|KLRAQ1_uc002rwj.2_Missense_Mutation_p.S301L|KLRAQ1_uc002rwl.2_Missense_Mutation_p.S255L|KLRAQ1_uc002rwk.2_Missense_Mutation_p.S301L|KLRAQ1_uc010yok.1_Missense_Mutation_p.S301L	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	301										ovary(1)	1						GTTTAGTTCTCACAATACCTT	0.363		NaN											0	0	0	0.054565	0	31	29				
ASB3	51130	broad.mit.edu	37	2	53897698	53897698	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:53897698T>C	uc002rxg.1	-	10	1634	c.1499A>G	c.(1498-1500)TAT>TGT	p.Y500C	ASB3_uc002rxh.1_Missense_Mutation_p.Y427C|ASB3_uc002rxi.3_Missense_Mutation_p.Y538C|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	500	SOCS box.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACGTCTTCATAGAGCAAATA	0.388		NaN											0	0	0	0.080935	0	11	35				
ALMS1	7840	broad.mit.edu	37	2	73717138	73717138	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:73717138A>G	uc002sje.1	+	12	8166	c.8055A>G	c.(8053-8055)GTA>GTG	p.V2685V	ALMS1_uc002sjf.1_Silent_p.V2641V|ALMS1_uc002sjg.2_Silent_p.V2071V|ALMS1_uc002sjh.1_Silent_p.V2071V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2683					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CAGAATTAGTAGAACCTGCTT	0.398		NaN											0	0	0	0.048971	0	173	126				
GPAT2	150763	broad.mit.edu	37	2	96690055	96690055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:96690055C>T	uc002svf.2	-	16	1923	c.1700G>A	c.(1699-1701)AGA>AAA	p.R567K	GPAT2_uc002svd.2_Missense_Mutation_p.R386K|GPAT2_uc002sve.2_Missense_Mutation_p.R369K|GPAT2_uc002svg.2_Missense_Mutation_p.R446K|GPAT2_uc010yuh.1_Missense_Mutation_p.R496K|GPAT2_uc002svh.2_Missense_Mutation_p.R567K	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	567					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GGGCGGCACTCTGCCTGCCAG	0.642		NaN											0	0	0	0.050027	0	25	23				
GLI2	2736	broad.mit.edu	37	2	121708927	121708927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:121708927C>G	uc010flp.2	+	3	393	c.363C>G	c.(361-363)TAC>TAG	p.Y121*	GLI2_uc010yyu.1_Nonsense_Mutation_p.Y121*|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Nonsense_Mutation_p.Y121*	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	121					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCCACCCGTACGTGAACCCCC	0.657		NaN											0	0	0	0.038147	0	8	84				
ZRANB3	84083	broad.mit.edu	37	2	136107676	136107676	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:136107676C>G	uc002tum.2	-	5	586	c.469G>C	c.(469-471)GAT>CAT	p.D157H	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D157H|ZRANB3_uc002tun.1_Missense_Mutation_p.D97H	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	157	DEAH box.|Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTGATTCATCCACTATAACT	0.408		NaN											0	0	0	0.080935	0	12	14				
TTN	7273	broad.mit.edu	37	2	179610937	179610937	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:179610937G>A	uc002unb.2	-	46	16414	c.16190C>T	c.(16189-16191)GCT>GTT	p.A5397V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8905							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATACAGCATCTGAATT	0.328		NaN											0	0	0	0.069288	0	23	30				
FARSB	10056	broad.mit.edu	37	2	223436667	223436667	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:223436667G>A	uc002vne.1	-	17	1728	c.1693C>T	c.(1693-1695)CAT>TAT	p.H565Y	FARSB_uc010zlq.1_Missense_Mutation_p.H585Y|FARSB_uc002vnf.1_Missense_Mutation_p.H466Y	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	565					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)	ACGTCAGGATGAAGGACCCCA	0.488		NaN											0	0	0	0.069288	0	21	17				
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:240061422C>T	uc002vyk.3	-	9	1728	c.936G>A	c.(934-936)GCG>GCA	p.A312A	HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCGTTCTCCGCGCTGACGC	0.662		NaN											0	0	0	0.09319	0	11	124				
PASK	23178	broad.mit.edu	37	2	242065894	242065894	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:242065894C>T	uc002wao.1	-	10	2528	c.2436G>A	c.(2434-2436)CGG>CGA	p.R812R	PASK_uc010zol.1_Silent_p.R626R|PASK_uc010zom.1_Silent_p.R777R|PASK_uc010fzl.1_Silent_p.R812R|PASK_uc010zon.1_Silent_p.R593R|PASK_uc002wap.2_Silent_p.R355R|PASK_uc002waq.2_Silent_p.R812R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	812					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCTCCCGGAACCGTCGGCCTT	0.562		NaN											0	0	0	0.041601	0	31	33				
CSNK2A1	1457	broad.mit.edu	37	20	472991	472991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:472991C>T	uc002wdw.1	-	9	921	c.528G>A	c.(526-528)TGG>TGA	p.W176*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.W176*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.W40*	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	176	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAGCCAAACCCCAGTCTATTA	0.393		NaN											0	0	0	0.080935	0	11	43				
PIGU	128869	broad.mit.edu	37	20	33162908	33162908	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:33162908C>T	uc002xas.2	-	11	1394	c.1194G>A	c.(1192-1194)CAG>CAA	p.Q398Q	PIGU_uc010zul.1_Silent_p.Q398Q|PIGU_uc002xat.2_Silent_p.Q378Q	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	398	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0						TCCCTCTTACCTGCCCAACGT	0.483		NaN											0	0	0	0.086207	0	37	81				
TGM2	7052	broad.mit.edu	37	20	36760817	36760817	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:36760817G>A	uc002xhr.2	-	11	1801	c.1701C>T	c.(1699-1701)CTC>CTT	p.L567L	TGM2_uc002xhq.2_Silent_p.L168L|TGM2_uc010zvx.1_Silent_p.L486L|TGM2_uc010zvy.1_Silent_p.L507L|TGM2_uc002xhs.1_Silent_p.L543L	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	567					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTGGCTCCACGAGGAGGGCCC	0.557		NaN											0	0	0	0.048971	0	93	216				
KCNB1	3745	broad.mit.edu	37	20	47991418	47991418	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:47991418G>A	uc002xur.1	-	2	843	c.679C>T	c.(679-681)CCC>TCC	p.P227S	KCNB1_uc002xus.1_Missense_Mutation_p.P227S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	227					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGCTGGGGGTTGTCTGTG	0.572		NaN											0	0	0	0.041601	0	31	41				
DIDO1	11083	broad.mit.edu	37	20	61541160	61541160	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:61541160G>A	uc002ydr.1	-	4	1316	c.1052C>T	c.(1051-1053)ACA>ATA	p.T351I	DIDO1_uc002yds.1_Missense_Mutation_p.T351I|DIDO1_uc002ydt.1_Missense_Mutation_p.T351I|DIDO1_uc002ydu.1_Missense_Mutation_p.T351I|DIDO1_uc002ydv.1_Missense_Mutation_p.T351I|DIDO1_uc002ydw.1_Missense_Mutation_p.T351I|DIDO1_uc002ydx.1_Missense_Mutation_p.T351I|DIDO1_uc011aao.1_Missense_Mutation_p.T351I	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	351					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TCCTATACTTGTACAATCGGT	0.453		NaN											0	0	0	0.048971	0	69	102				
KRTAP19-2	337969	broad.mit.edu	37	21	31859546	31859546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:31859546G>T	uc011acy.1	-	1	122	c.122C>A	c.(121-123)TCA>TAA	p.S41*		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	41						intermediate filament					0						TCTGTAGCATGATGGGCAGCA	0.453		NaN											1	0	2.08937e-45	0.048971	2.30589e-45	78	138				
SLC5A3	6526	broad.mit.edu	37	21	35468622	35468622	+	Silent	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:35468622G>C	uc002yto.2	+	2	1637	c.1125G>C	c.(1123-1125)CTG>CTC	p.L375L	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	375	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						TTGCAGCTCTGATGAGTGACT	0.493		NaN											0	0	0	0.0918	0	24	45				
RRP1B	23076	broad.mit.edu	37	21	45106729	45106729	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:45106729G>T	uc002zdk.2	+	12	1168	c.1054G>T	c.(1054-1056)GAT>TAT	p.D352Y	RRP1B_uc002zdl.2_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	352					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CATTTCTGCTGATGAAGATGA	0.428		NaN											1	0	2.47316e-13	0.059317	2.59499e-13	35	84				
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:30200815C>T	uc003agr.2	-	13	1270	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E389K|ASCC2_uc011akr.1_Missense_Mutation_p.E313K	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547		NaN											0	0	0	0.048971	0	97	315				
IL2RB	3560	broad.mit.edu	37	22	37524480	37524480	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:37524480G>C	uc003aqv.1	-	10	1443	c.1312C>G	c.(1312-1314)CCC>GCC	p.P438A		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	438	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGGCTGGGGCCACCGAGG	0.672		NaN											0	0	0	0.076483	0	23	23				
LRRN1	57633	broad.mit.edu	37	3	3887651	3887651	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:3887651G>A	uc003bpt.3	+	2	2087	c.1326G>A	c.(1324-1326)ACG>ACA	p.T442T	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	442	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGGCACGACGGTTTTCCTAG	0.448		NaN											0	0	0	0.045705	0	31	102				
ATG7	10533	broad.mit.edu	37	3	11340868	11340868	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:11340868T>C	uc003bwc.2	+	3	310	c.193T>C	c.(193-195)TTG>CTG	p.L65L	ATG7_uc003bwd.2_Silent_p.L65L|ATG7_uc011aum.1_Silent_p.L65L	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	65					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						TCGCTTAACATTGGAGTTCAG	0.393		NaN											0	0	0	0.048971	0	50	147				
LRRFIP2	9209	broad.mit.edu	37	3	37125241	37125241	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37125241C>A	uc003cgp.2	-	20	1587	c.1164G>T	c.(1162-1164)CAG>CAT	p.Q388H	LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q204H|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q132H	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	388	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CATTGTCTAACTGTGCATTGG	0.348		NaN											1	0	2.4624e-09	0.049695	2.53377e-09	19	74				
GOLGA4	2803	broad.mit.edu	37	3	37336557	37336557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37336557C>G	uc003cgv.2	+	6	974	c.670C>G	c.(670-672)CTC>GTC	p.L224V	GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.L246V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L105V	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	224	Potential.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TATCAGTGTTCTCCAAACTCA	0.363		NaN											0	0	0	0.064281	0	36	85				
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs144180122	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:51743211G>A	uc010hlv.2	+	2	451	c.212G>A	c.(211-213)CGC>CAC	p.R71H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	71	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGGACCGCATCAACCGT	0.632		NaN											0	0	0	0.048971	0	52	202				
ERC2	26059	broad.mit.edu	37	3	56468686	56468686	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:56468686T>C	uc003dhr.1	-	2	606	c.350A>G	c.(349-351)TAC>TGC	p.Y117C		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	117						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGATCTGTGTATGAAAGGAC	0.507		NaN											0	0	0	0.048971	0	69	174				
MGLL	11343	broad.mit.edu	37	3	127439916	127439916	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:127439916C>G	uc003ejx.2	-	5	605	c.460G>C	c.(460-462)GAA>CAA	p.E154Q	MGLL_uc003ejw.2_Missense_Mutation_p.E164Q|MGLL_uc011bko.1_Missense_Mutation_p.E164Q|MGLL_uc010hsp.1_Missense_Mutation_p.E154Q|MGLL_uc003ejv.2_Missense_Mutation_p.E128Q	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	monoglyceride lipase isoform 2	154					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity				0						GTTGCAGATTCAGGATTGGCA	0.537		NaN											0	0	0	0.037714	0	26	85				
ECE2	9718	broad.mit.edu	37	3	183995773	183995773	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:183995773C>G	uc003fni.3	+	5	931	c.893C>G	c.(892-894)TCT>TGT	p.S298C	ECE2_uc011brg.1_Missense_Mutation_p.S226C|ECE2_uc011brh.1_Missense_Mutation_p.S151C|ECE2_uc003fnl.3_Missense_Mutation_p.S226C|ECE2_uc003fnm.3_Missense_Mutation_p.S180C|ECE2_uc003fnk.3_Missense_Mutation_p.S151C|ECE2_uc011bri.1_Missense_Mutation_p.S213C|ECE2_uc010hxv.2_Translation_Start_Site	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	298	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTACCTATCTTGCCTACAG	0.562		NaN											0	0	0	0.086207	0	40	115				
ST6GAL1	6480	broad.mit.edu	37	3	186760727	186760727	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:186760727G>T	uc003frb.2	+	4	668	c.236G>T	c.(235-237)GGC>GTC	p.G79V	ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.G79V	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	79	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CAGACCCTCGGCAGTCTCAGA	0.567		NaN											1	0	9.85913e-13	0.11126	1.02439e-12	43	137				
LMLN	89782	broad.mit.edu	37	3	197726164	197726164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:197726164C>G	uc011buo.1	+	11	1205	c.1183C>G	c.(1183-1185)CAG>GAG	p.Q395E	LMLN_uc003fyt.2_Missense_Mutation_p.Q343E|LMLN_uc010iar.2_Missense_Mutation_p.Q395E|LMLN_uc010ias.2_Missense_Mutation_p.Q343E|LMLN_uc003fyu.2_Missense_Mutation_p.Q155E	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	395					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCACACTCAGAATCGAGT	0.388		NaN											0	0	0	0.043863	0	17	58				
RNF212	285498	broad.mit.edu	37	4	1107304	1107304	+	Translation_Start_Site	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:1107304A>T	uc003gcj.2	-	1	279	c.-51T>A	c.(-53--49)CCTTG>CCATG		RNF212_uc003gci.2_Translation_Start_Site|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Translation_Start_Site|RNF212_uc003gck.2_Translation_Start_Site	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a								zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		AGCCCACGCAAGGTTGGGACC	0.736		NaN											0	0	0	0.080935	0	10	17				
KIAA0232	9778	broad.mit.edu	37	4	6862671	6862671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:6862671C>G	uc003gjr.3	+	7	1025	c.562C>G	c.(562-564)CTG>GTG	p.L188V	KIAA0232_uc003gjq.3_Missense_Mutation_p.L188V	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	188							ATP binding			ovary(2)	2						ACCAGTTTGCCTGCAAGAAAT	0.408		NaN											0	0	0	0.048971	0	50	97				
CC2D2A	57545	broad.mit.edu	37	4	15542459	15542459	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:15542459G>A	uc010idv.2	+	18	2249	c.2004_splice	c.e18-1	p.R668_splice	CC2D2A_uc003gnx.2_Splice_Site_p.R619_splice|CC2D2A_uc003gnz.1_Splice_Site|CC2D2A_uc003goa.1_Splice_Site	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform						cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						TCCTTTTGCAGAGCGGAGGTC	0.433		NaN											0	0	0	0.004672	0	3	10				
UCHL1	7345	broad.mit.edu	37	4	41263746	41263746	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:41263746C>T	uc003gvo.2	+	5	436	c.340C>T	c.(340-342)CTG>TTG	p.L114L	UCHL1_uc003gvp.2_Silent_p.L33L|UCHL1_uc003gvq.2_Silent_p.L33L|UCHL1_uc003gvr.2_Silent_p.L33L|UCHL1_uc003gvs.2_Silent_p.L33L	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	114					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|skin(1)	2						TGGATCAGTTCTGAAACAGTT	0.343		NaN											0	0	0	0.038395	0	18	41				
LPHN3	23284	broad.mit.edu	37	4	62813863	62813863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:62813863T>C	uc010ihh.2	+	14	2643	c.2470T>C	c.(2470-2472)TCC>CCC	p.S824P	LPHN3_uc003hcq.3_Missense_Mutation_p.S824P|LPHN3_uc003hct.2_Missense_Mutation_p.S217P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	811	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTGGAGCTACTCCAAGCGTAC	0.373		NaN											0	0	0	0.02938	0	6	15				
SHROOM3	57619	broad.mit.edu	37	4	77357255	77357255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:77357255C>G	uc011cbx.1	+	1	1003	c.50C>G	c.(49-51)TCT>TGT	p.S17C		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	17					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			ACATTAAACTCTAACACGGCC	0.483		NaN											0	0	0	0.048971	0	66	131				
ATOH1	474	broad.mit.edu	37	4	94750250	94750250	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:94750250G>T	uc003hta.1	+	1	173	c.173G>T	c.(172-174)AGC>ATC	p.S58I		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	58					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCCTGGACAGCACCGACCCA	0.677		NaN											1	0	1.16021e-09	0.034045	1.19963e-09	27	47				
ADCY2	108	broad.mit.edu	37	5	7695949	7695949	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:7695949C>G	uc003jdz.1	+	6	1021	c.954C>G	c.(952-954)CTC>CTG	p.L318L	ADCY2_uc011cmo.1_Silent_p.L138L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	318	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGAATGAGCTCTTTGGAAAGT	0.433		NaN											0	0	0	0.0333	0	14	33				
MARCH11	441061	broad.mit.edu	37	5	16067768	16067768	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:16067768T>C	uc003jfo.2	-	4	1234	c.1021A>G	c.(1021-1023)AGT>GGT	p.S341G	MARCH11_uc010itw.1_Missense_Mutation_p.S97G	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	341						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						AAAGTCCTACTTGTGGAAGAC	0.473		NaN											0	0	0	0.108266	0	28	62				
BASP1	10409	broad.mit.edu	37	5	17275799	17275799	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:17275799C>T	uc003jfx.2	+	2	653	c.474C>T	c.(472-474)GCC>GCT	p.A158A		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	158					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						CAGCTCCTGCCGCCCAGGAGA	0.517		NaN											0	0	0	0.02938	0	6	15				
ANKRD55	79722	broad.mit.edu	37	5	55407474	55407475	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:55407474_55407475CC>AA	uc003jqu.2	-	10	1252_1253	c.1100_1101GG>TT	c.(1099-1101)AGG>ATT	p.R367I	ANKRD55_uc003jqt.2_Missense_Mutation_p.R79I	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	366										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTATCGGTCCCTGCTGGGATC	0.505		NaN											0	0	0	0.004672	0	81	185				
ZNF608	57507	broad.mit.edu	37	5	123983602	123983602	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:123983602T>C	uc003ktq.1	-	4	2598	c.2475A>G	c.(2473-2475)AAA>AAG	p.K825K	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.K825K|ZNF608_uc003ktt.1_Silent_p.K825K	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	825						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCCCGTCTCTTTCCCTTCTT	0.473		NaN											0	0	0	0.048971	0	76	174				
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:127674667C>T	uc003kuu.2	-	26	3869	c.3430G>A	c.(3430-3432)GAA>AAA	p.E1144K	FBN2_uc003kuv.2_Missense_Mutation_p.E1111K	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1144	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507		NaN											0	0	0	0.054565	0	32	84				
REEP2	51308	broad.mit.edu	37	5	137777134	137777134	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:137777134G>A	uc003lcz.2	+	3	288	c.166G>A	c.(166-168)GAT>AAT	p.D56N	REEP2_uc003lda.2_Missense_Mutation_p.D56N|REEP2_uc011cyt.1_Missense_Mutation_p.D17N	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	56						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACGCTCACGGATATAGTGCT	0.602		NaN											0	0	0	0.050027	0	29	57				
PCDHA4	56144	broad.mit.edu	37	5	140188665	140188665	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140188665C>T	uc003lhi.2	+	1	1994	c.1893C>T	c.(1891-1893)ATC>ATT	p.I631I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.I631I|PCDHA4_uc011daa.1_Silent_p.I631I	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	631	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGAGATCAGCACAACGC	0.682		NaN											0	0	0	0.048971	0	59	132				
PCDHGB1	56104	broad.mit.edu	37	5	140730728	140730728	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140730728G>A	uc003ljo.1	+	1	901	c.901G>A	c.(901-903)GGC>AGC	p.G301S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.G301S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	301	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAACCAATGGCACATTGGA	0.418		NaN											0	0	0	0.048971	0	47	97				
FOXC1	2296	broad.mit.edu	37	6	1612318	1612318	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:1612318C>T	uc003mtp.2	+	1	1638	c.1638C>T	c.(1636-1638)TTC>TTT	p.F546F		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	546					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CCGGAGCTTTCGTCTACGACT	0.498		NaN											0	0	0	0.105934	0	14	21				
HLA-DMB	3109	broad.mit.edu	37	6	32906580	32906580	+	Missense_Mutation	SNP	G	G	A	rs12176347		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:32906580G>A	uc003ocl.1	-	2	451	c.218C>T	c.(217-219)GCG>GTG	p.A73V	HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	73	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						GAGGACATTCGCCAAGCTATT	0.527		NaN											0	0	0	0.045515	0	47	80				
RWDD2A	112611	broad.mit.edu	37	6	83905938	83905938	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:83905938G>C	uc003pjx.3	+	3	1097	c.826G>C	c.(826-828)GAG>CAG	p.E276Q	PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.E201Q	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	276											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GCACAAAAGTGAGCATGTTTT	0.363		NaN											0	0	0	0.069288	0	23	55				
PRSS35	167681	broad.mit.edu	37	6	84234199	84234199	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:84234199G>A	uc003pjz.2	+	2	1202	c.1039G>A	c.(1039-1041)GGT>AGT	p.G347S	PRSS35_uc010kbm.2_Missense_Mutation_p.G347S	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	347	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTCCACCGGTTCGGGGGT	0.512		NaN											0	0	0	0.048971	0	52	72				
SFRS18	25957	broad.mit.edu	37	6	99848724	99848724	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:99848724A>G	uc003ppo.3	-	12	2338	c.2110T>C	c.(2110-2112)TTC>CTC	p.F704L	SFRS18_uc003ppl.2_Missense_Mutation_p.F250L|SFRS18_uc003ppp.3_Missense_Mutation_p.F704L|SFRS18_uc011eag.1_Missense_Mutation_p.F704L	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	704						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TGACTACTGAACTTAAAATCt	0.169		NaN											0	0	0	0.105934	0	14	29				
LAMA2	3908	broad.mit.edu	37	6	129794495	129794495	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:129794495G>C	uc003qbn.2	+	51	7542	c.7437G>C	c.(7435-7437)TTG>TTC	p.L2479F	LAMA2_uc003qbo.2_Missense_Mutation_p.L2479F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2479	Laminin G-like 2.				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)		TGAGAAACTTGAGGTAATTTA	0.333		NaN											0	0	0	0.099896	0	26	48				
OLIG3	167826	broad.mit.edu	37	6	137815072	137815072	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:137815072T>A	uc003qhp.1	-	1	460	c.236A>T	c.(235-237)CAG>CTG	p.Q79L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	79	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGTAGGTCCTGCTCCGACAG	0.597		NaN											0	0	0	0.048971	0	63	120				
TWISTNB	221830	broad.mit.edu	37	7	19738064	19738064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:19738064C>T	uc003sup.1	-	4	913	c.892G>A	c.(892-894)GAC>AAC	p.D298N		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	298	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						CCACTGGAGTCACTGCCTTGG	0.423		NaN											0	0	0	0.048971	0	208	207				
DNAH11	8701	broad.mit.edu	37	7	21857887	21857887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:21857887G>A	uc003svc.2	+	66	10673	c.10642G>A	c.(10642-10644)GAA>AAA	p.E3548K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3548	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CATCTTAATTGAAAATCTCGA	0.328		NaN							Kartagener_syndrome				0	0	0	0.104719	0	38	22				
AMPH	273	broad.mit.edu	37	7	38475976	38475976	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:38475976C>T	uc003tgu.2	-	12	1099	c.1030G>A	c.(1030-1032)GAG>AAG	p.E344K	AMPH_uc003tgv.2_Missense_Mutation_p.E344K|AMPH_uc003tgt.2_Missense_Mutation_p.E97K	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	344					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TTCTTCACCTCAGGGACTTCA	0.428		NaN											0	0	0	0.050027	0	32	33				
GRB10	2887	broad.mit.edu	37	7	50663213	50663213	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:50663213C>A	uc003tpi.2	-	15	1590	c.1559G>T	c.(1558-1560)CGT>CTT	p.R520L	GRB10_uc003tph.3_Missense_Mutation_p.R462L|GRB10_uc003tpj.2_Missense_Mutation_p.R474L|GRB10_uc003tpk.2_Missense_Mutation_p.R520L|GRB10_uc010kzb.2_Missense_Mutation_p.R462L|GRB10_uc003tpl.2_Missense_Mutation_p.R514L|GRB10_uc003tpm.2_Missense_Mutation_p.R462L|GRB10_uc003tpn.2_Missense_Mutation_p.R462L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	520	SH2.			R->K: No effect on NEDD4-binding. No effect on the disruption of the interaction between INSR and IRS1 and IRS2.	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	p.R520H(1)		lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CTGGCTGTCACGGAGGAGAAA	0.303		NaN							Russell-Silver_syndrome				1	0	6.95862e-65	0.048971	7.71972e-65	137	152				
MUC17	140453	broad.mit.edu	37	7	100681563	100681563	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100681563C>T	uc003uxp.1	+	3	6919	c.6866C>T	c.(6865-6867)ACG>ATG	p.T2289M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2289	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.478		NaN											0	0	0	0.048971	0	292	342				
RELN	5649	broad.mit.edu	37	7	103368593	103368593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:103368593C>T	uc003vca.2	-	7	878	c.718G>A	c.(718-720)GTC>ATC	p.V240I	RELN_uc010liz.2_Missense_Mutation_p.V240I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	240					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAAGGTGACGGCATTGCCA	0.433		NaN											0	0	0	0.048971	0	50	59				
OR2F1	26211	broad.mit.edu	37	7	143657782	143657782	+	Missense_Mutation	SNP	C	C	A	rs73464588	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:143657782C>A	uc003wds.1	+	1	763	c.719C>A	c.(718-720)ACG>AAG	p.T240K		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GCTTTCCACACGTGTGCCTCT	0.507		NaN											1	0	8.70839e-23	0.048971	9.41567e-23	80	90				
ZNF862	643641	broad.mit.edu	37	7	149558887	149558887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:149558887G>A	uc010lpn.2	+	7	2830	c.2638G>A	c.(2638-2640)GAG>AAG	p.E880K	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CGTGGCACTGGAGAGCCTCCG	0.602		NaN											0	0	0	0.069456	0	39	37				
DPP6	1804	broad.mit.edu	37	7	154564587	154564587	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:154564587C>T	uc003wlk.2	+	10	1200	c.1071C>T	c.(1069-1071)CAC>CAT	p.H357H	DPP6_uc003wli.2_Silent_p.H293H|DPP6_uc003wlm.2_Silent_p.H295H|DPP6_uc011kvq.1_Silent_p.H250H	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	357	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTCCCTACACGTTATTGGCT	0.453		NaN											0	0	0	0.038395	0	17	13				
MYOM2	9172	broad.mit.edu	37	8	2044236	2044236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:2044236G>A	uc003wpx.3	+	18	2413	c.2275G>A	c.(2275-2277)GAG>AAG	p.E759K	MYOM2_uc011kwi.1_Missense_Mutation_p.E184K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	759	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAACTGGCACGAGGTCAATTC	0.493		NaN											0	0	0	0.069288	0	23	49				
DOCK5	80005	broad.mit.edu	37	8	25267711	25267711	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:25267711C>G	uc003xeg.2	+	51	5638	c.5501C>G	c.(5500-5502)TCC>TGC	p.S1834C	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1834	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGAGGAACTCCACTGAGGTA	0.592		NaN											0	0	0	0.024245	0	15	29				
RB1CC1	9821	broad.mit.edu	37	8	53568651	53568651	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:53568651T>C	uc003xre.3	-	15	4296	c.3738A>G	c.(3736-3738)CTA>CTG	p.L1246L	RB1CC1_uc003xrf.3_Silent_p.L1246L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1246	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAAATTCTTTTAGGGCAGTCT	0.328		NaN											0	0	0	0.041601	0	30	46				
C8orf44	56260	broad.mit.edu	37	8	67590131	67590131	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:67590131A>G	uc003xwo.1	+	2	341	c.188A>G	c.(187-189)AAA>AGA	p.K63R	SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.K63R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	63											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggagttcgaaaccagcctgg	0.035		NaN											0	0	0	0.02938	0	5	29				
SLCO5A1	81796	broad.mit.edu	37	8	70588853	70588853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:70588853G>A	uc003xyl.2	-	9	2787	c.2080C>T	c.(2080-2082)CGA>TGA	p.R694*	SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.R639*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	694	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAAGTGTTCGCAACAAAACA	0.418		NaN											0	0	0	0.043863	0	20	48				
PDP1	54704	broad.mit.edu	37	8	94934630	94934630	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:94934630A>G	uc003yge.2	+	2	612	c.343A>G	c.(343-345)AAT>GAT	p.N115D	PDP1_uc003ygf.2_Missense_Mutation_p.N140D|PDP1_uc010max.2_Missense_Mutation_p.N140D|PDP1_uc011lgm.1_Missense_Mutation_p.N115D|PDP1_uc011lgn.1_Missense_Mutation_p.N174D	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	115				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480).	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						ATTTGACAGCAATCAGCTGCC	0.468		NaN											0	0	0	0.104719	0	41	117				
COL22A1	169044	broad.mit.edu	37	8	139609214	139609214	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:139609214C>T	uc003yvd.2	-	62	4813	c.4366_splice	c.e62-1	p.G1456_splice	COL22A1_uc011ljo.1_Splice_Site_p.G736_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGACTCCCCCTAGGAGGGAG	0.507		NaN								HNSCC(7;0.00092)			0	0	0	0.11126	0	44	84				
ZNF510	22869	broad.mit.edu	37	9	99522006	99522006	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:99522006C>T	uc004awn.1	-	6	1295	c.1106G>A	c.(1105-1107)AGA>AAA	p.R369K	ZNF510_uc004awo.1_Missense_Mutation_p.R369K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				AGTCTGTGTTCTGTCATTACT	0.388		NaN											0	0	0	0.048971	0	56	41				
HSDL2	84263	broad.mit.edu	37	9	115171290	115171290	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115171290C>T	uc004bga.1	+	4	477	c.384C>T	c.(382-384)GGC>GGT	p.G128G	HSDL2_uc011lwv.1_Silent_p.G7G|HSDL2_uc004bgb.1_Intron|HSDL2_uc004bgc.1_Intron|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	128						peroxisome	oxidoreductase activity|sterol binding				0						ACACCAGAGGCACCTACCTTG	0.418		NaN											0	0	0	0.050027	0	28	59				
ZFP37	7539	broad.mit.edu	37	9	115805288	115805288	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805288C>G	uc004bgm.1	-	4	1638	c.1610G>C	c.(1609-1611)AGA>ACA	p.R537T	ZFP37_uc011lwz.1_Missense_Mutation_p.R552T|ZFP37_uc011lxa.1_Missense_Mutation_p.R538T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	537	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AGTATGAACTCTCTGATGTTG	0.403		NaN											0	0	0	0.041601	0	30	47				
ZFP37	7539	broad.mit.edu	37	9	115805738	115805738	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805738C>G	uc004bgm.1	-	4	1188	c.1160G>C	c.(1159-1161)AGA>ACA	p.R387T	ZFP37_uc011lwz.1_Missense_Mutation_p.R402T|ZFP37_uc011lxa.1_Missense_Mutation_p.R388T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	387	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TGAGCTGTGTCTGAAGGTTTT	0.413		NaN											0	0	0	0.092188	0	41	82				
ZFP37	7539	broad.mit.edu	37	9	115806346	115806346	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806346C>T	uc004bgm.1	-	4	580	c.552G>A	c.(550-552)TTG>TTA	p.L184L	ZFP37_uc011lwz.1_Silent_p.L199L|ZFP37_uc011lxa.1_Silent_p.L185L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AATTCTGTTTCAAAATTTTTC	0.333		NaN											0	0	0	0.069456	0	39	63				
ZFP37	7539	broad.mit.edu	37	9	115806541	115806541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806541C>G	uc004bgm.1	-	4	385	c.357G>C	c.(355-357)CAG>CAC	p.Q119H	ZFP37_uc011lwz.1_Missense_Mutation_p.Q134H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q120H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	119						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CATCATCTTTCTGGACTTCTA	0.353		NaN											0	0	0	0.0918	0	26	54				
LRSAM1	90678	broad.mit.edu	37	9	130217858	130217858	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:130217858C>G	uc004brb.1	+	5	478	c.133C>G	c.(133-135)CCA>GCA	p.P45A	LRSAM1_uc010mxk.1_Missense_Mutation_p.P45A|LRSAM1_uc004brc.1_Missense_Mutation_p.P45A|LRSAM1_uc004brd.1_Missense_Mutation_p.P45A	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	45	LRR 1.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						ATCTTAGATTCCATTTGGAGC	0.438		NaN											0	0	0	0.030593	0	29	60				
FAM78A	286336	broad.mit.edu	37	9	134136337	134136337	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:134136337T>G	uc004cak.2	-	2	1064	c.724A>C	c.(724-726)ATC>CTC	p.I242L	FAM78A_uc004caj.2_Missense_Mutation_p.I239L	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	242										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TTGCTCAGGATTTTGGGCTGG	0.682		NaN											0	0	0	0.048971	0	58	111				
GTF3C4	9329	broad.mit.edu	37	9	135555086	135555086	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:135555086G>A	uc010mzv.2	+	2	2338	c.2080G>A	c.(2080-2082)GAA>AAA	p.E694K	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	694					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGTCTTAGGAGAAGTGTATCT	0.478		NaN											0	0	0	0.030593	0	30	53				
FAM9B	171483	broad.mit.edu	37	X	8997436	8997436	+	Missense_Mutation	SNP	G	G	A	rs12839241		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:8997436G>A	uc011mhu.1	-	5	394	c.305C>T	c.(304-306)TCT>TTT	p.S102F	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.S142F	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	102						nucleus					0		Hepatocellular(5;0.219)				CAACTTCAGAGAATGTATATA	0.294		NaN											0	0	0	0.09319	0	12	36				
TSPAN6	7105	broad.mit.edu	37	X	99888429	99888429	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:99888429C>T	uc004ega.1	-	5	661	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	TSPAN6_uc010nna.1_Silent_p.Q92Q	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	186	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						CTGCATCTCTCTGTGGAGTAC	0.338		NaN											0	0	0	0.037714	0	29	19				
LAMP2	3920	broad.mit.edu	37	X	119589270	119589270	+	Silent	SNP	G	G	A	rs147369153	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:119589270G>A	uc004est.3	-	3	519	c.339C>T	c.(337-339)AGC>AGT	p.S113S	LAMP2_uc004ess.3_Silent_p.S113S|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Silent_p.S66S|LAMP2_uc010nqp.1_Silent_p.S113S	NM_002294	NP_002285	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	113	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1						AAAATGAGACGCTGTCAATTG	0.403		NaN											0	0	0	0.064281	0	35	24				
MAGEC1	9947	broad.mit.edu	37	X	140993238	140993238	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140993238G>C	uc004fbt.2	+	4	334	c.48G>C	c.(46-48)CAG>CAC	p.Q16H	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	16							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTCCAGAGTTCCTCTG	0.463		NaN								HNSCC(15;0.026)			0	0	0	0.039052	0	45	48				
MAGEC1	9947	broad.mit.edu	37	X	140995384	140995384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140995384C>T	uc004fbt.2	+	4	2480	c.2194C>T	c.(2194-2196)CAG>TAG	p.Q732*	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	732							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCTCCTCAGGGGGAGGA	0.542		NaN								HNSCC(15;0.026)			0	0	0	0.048971	0	100	84				
MTMR1	8776	broad.mit.edu	37	X	149900044	149900044	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:149900044G>A	uc004fei.2	+	8	955	c.820G>A	c.(820-822)GAT>AAT	p.D274N	MTMR1_uc011mya.1_Missense_Mutation_p.D180N|MTMR1_uc004feg.1_Missense_Mutation_p.D274N|MTMR1_uc004feh.1_Missense_Mutation_p.D282N|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	274	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAAAGATGATGACCTTTC	0.358		NaN											0	0	0	0.048971	0	52	30				
DUSP9	1852	broad.mit.edu	37	X	152915679	152915679	+	Silent	SNP	G	G	T	rs139744131	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:152915679G>T	uc004fhx.3	+	4	1278	c.1074G>T	c.(1072-1074)GGG>GGT	p.G358G	DUSP9_uc004fhy.3_Silent_p.G358G	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	358	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGGGGGGCAGGCATCTG	0.672		NaN											1	0	0.00198382	0.02938	0.00199318	7	117				
ARID1A	8289	broad.mit.edu	37	1	27107085	27107102	+	In_Frame_Del	DEL	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCGGGCTGCCCGCGCGCT	-	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT	uc001bmv.1	+	20	7069_7086	c.6696_6713delGCGGGCTGCCCGCGCGCT	c.(6694-6714)CGGCGGGCTGCCCGCGCGCTG>CGG	p.RAARAL2233del	ARID1A_uc001bmu.1_In_Frame_Del_p.RAARAL2016del|ARID1A_uc001bmx.1_In_Frame_Del_p.RAARAL1079del|ARID1A_uc009vsm.1_In_Frame_Del_p.RAARAL561del|ARID1A_uc009vsn.1_In_Frame_Del_p.RAARAL475del	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2233_2238					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	p.L2238fs*40(1)|p.A2235fs*32(1)		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)		ACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTG	0.573		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	27	123	---	Valid	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:120612003_120612004delGG	uc001eik.2	-	1	273_274	c.17_18delCC	c.(16-18)CCCfs	p.P6fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.663		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				NaN	NaN	NaN	NaN	NaN	7	32	---		---	---
PLEKHA7	144100	broad.mit.edu	37	11	16838371	16838390	+	Frame_Shift_Del	DEL	CCTTGGAGAATCCCCCAGCG	CCTTGGAGAATCCCCCAGCG	-	rs142792914		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG	uc001mmo.2	-	11	1838_1857	c.1823_1842delCGCTGGGGGATTCTCCAAGG	c.(1822-1842)TCGCTGGGGGATTCTCCAAGGfs	p.S608fs	PLEKHA7_uc010rcu.1_Frame_Shift_Del_p.S608fs|PLEKHA7_uc010rcv.1_Frame_Shift_Del_p.S182fs|PLEKHA7_uc001mmn.2_Frame_Shift_Del_p.S316fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	608_614	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CCCGTGCCCTCCTTGGAGAATCCCCCAGCGAGATGTCCAC	0.641		NaN											NaN	NaN	NaN	NaN	NaN	9	72	---		---	---
MBD6	114785	broad.mit.edu	37	12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:57920934delC	uc001soj.1	+	7	2230	c.2006delC	c.(2005-2007)GCCfs	p.A669fs	MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCACTTTCAGCCCCCCCTACC	0.642		NaN											NaN	NaN	NaN	NaN	NaN	28	24	---		---	---
FLT3	2322	broad.mit.edu	37	13	28609758	28609759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:28609758_28609759insT	uc001urw.2	-	12	1552_1553	c.1470_1471insA	c.(1468-1473)AAAGTGfs	p.K490fs	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Ins_p.K490fs	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	490_491	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAAACACTTTTCTGTTAG	0.426		NaN	Mis|O		AML|ALL								NaN	NaN	NaN	NaN	NaN	60	126	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38060758	38060762	+	Frame_Shift_Del	DEL	GCTCC	GCTCC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCTCC	-	GCTCC	GCTCC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:38060758_38060762delGCTCC	uc001wuf.2	-	2	1539_1543	c.1227_1231delGGAGC	c.(1225-1233)TCGGAGCAGfs	p.S409fs	FOXA1_uc010tpz.1_Frame_Shift_Del_p.S376fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	409_411					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTATGCTGCTGCTCCGAGGAGGACA	0.6		NaN											NaN	NaN	NaN	NaN	NaN	11	49	---	Valid	---	---
ITGAE	3682	broad.mit.edu	37	17	3661102	3661104	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:3661102_3661104delGAC	uc002fwo.3	-	9	1015_1017	c.916_918delGTC	c.(916-918)GTCdel	p.V306del		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	306	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCACCACCATGACCTTGGATGCC	0.532		NaN											NaN	NaN	NaN	NaN	NaN	13	300	---		---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17160706_17160707delGA	uc002nfe.2	-	11	1320_1321	c.1209_1210delTC	c.(1207-1212)TCTCGTfs	p.S403fs	HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	403_404					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						CTCCCTGAACGAGAGAGAGAGG	0.495		NaN											NaN	NaN	NaN	NaN	NaN	7	261	---		---	---
ZNF223	7766	broad.mit.edu	37	19	44564985	44564985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:44564985delG	uc002oyf.1	+	4	479	c.226delG	c.(226-228)GGGfs	p.G76fs	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				CCAAAGGGAAGGGAATTCAGG	0.338		NaN											NaN	NaN	NaN	NaN	NaN	46	146	---		---	---
ZFP36L2	678	broad.mit.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:43452831_43452832insC	uc002rsv.3	-	2	402_403	c.111_112insG	c.(109-114)GGGACGfs	p.G37fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	37_38					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	21	19	---		---	---
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:49005998delC	uc003cvb.2	+	7	882	c.570delC	c.(568-570)CTCfs	p.L190fs	ARIH2_uc003cvc.2_Frame_Shift_Del_p.L190fs|ARIH2_uc003cvf.2_Frame_Shift_Del_p.L108fs|ARIH2_uc010hkl.2_Frame_Shift_Del_p.L190fs	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.378		NaN											NaN	NaN	NaN	NaN	NaN	151	155	---		---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:42196333delT	uc003osd.2	-	18	3916	c.3353delA	c.(3352-3354)AAGfs	p.K1118fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542		NaN											NaN	NaN	NaN	NaN	NaN	8	554	---		---	---
GIGYF1	64599	broad.mit.edu	37	7	100283947	100283948	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100283947_100283948insC	uc003uwg.1	-	8	1812_1813	c.803_804insG	c.(802-804)GGAfs	p.G268fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	268	Poly-Gly.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCTCCCCCTCCCCGCCCCTC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	7	186	---		---	---
