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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ESPN	83715	broad.mit.edu	37	1	6488379	6488379	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:6488379G>A	uc001amy.2	+	2	556	c.388G>A	c.(388-390)GAC>AAC	p.D130N		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	130	ANK 4.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGGTGGGGACCCCACCGC	0.632			NA											33	63					0	0	0.010818	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13718412	13718412	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:13718412A>G	uc009vnz.1	+	3	905	c.875A>G	c.(874-876)AAG>AGG	p.K292R		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	PRAME family member 17	292											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCCTCAAGAACCCCTTG	0.493			NA											15	196					0	0	0.021523	0	0
PRDM2	7799	broad.mit.edu	37	1	14108929	14108929	+	Missense_Mutation	SNP	C	C	T	rs144820187	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:14108929C>T	uc001avi.2	+	8	5495	c.4639C>T	c.(4639-4641)CCC>TCC	p.P1547S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P1547S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P1346S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1547						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGTCCCACTTCCCTCCTCATC	0.547			NA											6	91					0	0	0.021553	0	0
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:23418835C>T	uc001bgk.2	-	4	2304	c.1920G>A	c.(1918-1920)CCG>CCA	p.P640P	LUZP1_uc010odv.1_Silent_p.P640P|LUZP1_uc001bgl.2_Silent_p.P640P|LUZP1_uc001bgm.1_Silent_p.P640P	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468			NA											5	261					0	0	0.014758	0	0
FUCA1	2517	broad.mit.edu	37	1	24194554	24194554	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:24194554C>G	uc001bie.2	-	1	268	c.223G>C	c.(223-225)GAG>CAG	p.E75Q	FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	NM_000147	NP_000138	P04066	FUCO_HUMAN	fucosidase, alpha-L-1, tissue precursor	75					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGAACCACTCGCTGCCCCAG	0.687			NA											5	21					0	0	0.021553	0	0
C1orf63	57035	broad.mit.edu	37	1	25573111	25573111	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:25573111G>C	uc001bjw.2	-	2	596	c.344C>G	c.(343-345)TCC>TGC	p.S115C		NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	hypothetical protein LOC57035	115	Arg-rich.									pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGCTACGGGACCGGGACCG	0.677			NA											27	64					0	0	0.024334	0	0
EYA3	2140	broad.mit.edu	37	1	28384528	28384528	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:28384528C>G	uc001bpi.1	-	2	175	c.10G>C	c.(10-12)GAG>CAG	p.E4Q	EYA3_uc010ofs.1_5'UTR|EYA3_uc010oft.1_Missense_Mutation_p.E4Q|EYA3_uc001bpj.2_Missense_Mutation_p.E4Q|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	4					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAATCTTGCTCTTCTTCCATG	0.313			NA											21	203					0	0	0.024334	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069903	29069903	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:29069903C>T	uc001brc.2	+	4	1618	c.1121C>T	c.(1120-1122)TCT>TTT	p.S374F	YTHDF2_uc001brd.2_Missense_Mutation_p.S371F|YTHDF2_uc010ofx.1_Missense_Mutation_p.S324F|YTHDF2_uc001bre.2_Missense_Mutation_p.S324F	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	374					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGGACAGTCTCAGGCTGGT	0.527			NA											37	78					0	0	0.017118	0	0
MYCL1	4610	broad.mit.edu	37	1	40363105	40363105	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:40363105C>G	uc001cer.1	-	3	1251	c.1034G>C	c.(1033-1035)AGA>ACA	p.R345T	MYCL1_uc001ces.1_Missense_Mutation_p.R345T	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	345	Leucine-zipper.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGGAGCTGTCTTTTCTCTGT	0.522			NA	A		small cell lung 								60	98					0	0	0.01441	0	0
EIF2B3	8891	broad.mit.edu	37	1	45347297	45347297	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:45347297C>T	uc001cmt.1	-	7	898	c.771G>A	c.(769-771)GAG>GAA	p.E257E	EIF2B3_uc001cmu.1_Silent_p.E257E|EIF2B3_uc001cmv.1_Silent_p.E257E|EIF2B3_uc001cmw.2_Silent_p.E257E	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	257					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGGACTTCAGCTCCTTTTTCT	0.468	Colon(26;357 658 2581 11857 12657)		NA											63	173					0	0	0.01441	0	0
MYSM1	114803	broad.mit.edu	37	1	59139252	59139252	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:59139252G>A	uc009wab.1	-	11	1588	c.1565C>T	c.(1564-1566)ACG>ATG	p.T522M	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	522					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TACCTCAAACGTTTGTCCTTC	0.383			NA											4	69					0	0	0.014758	0	0
DOCK7	85440	broad.mit.edu	37	1	63113915	63113915	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:63113915C>G	uc001daq.2	-	6	628	c.594G>C	c.(592-594)TTG>TTC	p.L198F	DOCK7_uc001dan.2_Missense_Mutation_p.L90F|DOCK7_uc001dao.2_Missense_Mutation_p.L90F|DOCK7_uc001dap.2_Missense_Mutation_p.L198F|DOCK7_uc009wah.1_Missense_Mutation_p.L198F	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	198					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						GTGAATTTTTCAAGTCAAAGA	0.383			NA											42	66					0	0	0.010771	0	0
LRRC40	55631	broad.mit.edu	37	1	70611554	70611554	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:70611554G>T	uc001der.1	-	15	1790	c.1738C>A	c.(1738-1740)CCT>ACT	p.P580T		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	580	LRR 20.									ovary(1)	1						GCTGCTCGAGGAACTCGGAAT	0.348			NA											9	60					2.74318e-10	3.12335e-10	0.006214	1	0
CLCA4	22802	broad.mit.edu	37	1	87031004	87031004	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:87031004G>A	uc009wcs.2	+	5	649	c.605G>A	c.(604-606)GGA>GAA	p.G202E	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_Missense_Mutation_p.G22E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	202						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAGTGTCAAGGAGGCAGCTGT	0.358			NA											4	87					0	0	0.009096	0	0
RPL5	6125	broad.mit.edu	37	1	93306114	93306114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:93306114G>T	uc001doz.2	+	7	790	c.712G>T	c.(712-714)GAG>TAG	p.E238*	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Nonsense_Mutation_p.E188*|RPL5_uc001dpd.2_Nonsense_Mutation_p.E39*|SNORA66_uc009wdi.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5	238					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCAGATGGAGGAGATGTATAA	0.363			NA											34	99					6.53348e-20	7.93486e-20	0.017118	1	0
ABCA4	24	broad.mit.edu	37	1	94508894	94508894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:94508894G>C	uc001dqh.2	-	21	3292	c.3188C>G	c.(3187-3189)TCA>TGA	p.S1063*		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1063	Cytoplasmic.|ABC transporter 1.		S -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGAGCACCTGATAGGTCCTG	0.592			NA											10	60					0	0	0.008291	0	0
RTCD1	8634	broad.mit.edu	37	1	100757055	100757055	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:100757055C>T	uc001dtc.2	+	11	1314	c.1096C>T	c.(1096-1098)CTA>TTA	p.L366L	RTCD1_uc001dtd.2_Silent_p.L379L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	366					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		AAATCCAAATCTATAGAGTAT	0.303			NA											8	252					0	0	0.00308	0	0
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:101186146G>A	uc001dti.2	+	2	299	c.179G>A	c.(178-180)AGA>AAA	p.R60K	VCAM1_uc001dtj.2_Missense_Mutation_p.R60K|VCAM1_uc010ouj.1_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	60	Ig-like C2-type 1.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478			NA											22	55					0	0	0.010504	0	0
COL11A1	1301	broad.mit.edu	37	1	103462666	103462666	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:103462666T>C	uc001dul.2	-	26	2529	c.2211A>G	c.(2209-2211)AAA>AAG	p.K737K	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.K749K|COL11A1_uc001dun.2_Silent_p.K698K|COL11A1_uc009weh.2_Silent_p.K621K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	737	Triple-helical 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)		ACTGGCCTTCTTTCCCAGGAT	0.328			NA											7	445					0	0	0.008291	0	0
AMPD2	271	broad.mit.edu	37	1	110172893	110172893	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:110172893C>T	uc009wfh.1	+	17	2726	c.2184C>T	c.(2182-2184)ATC>ATT	p.I728I	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.I647I|AMPD2_uc001dyc.1_Silent_p.I728I|AMPD2_uc010ovr.1_Silent_p.I653I|AMPD2_uc001dyd.1_Silent_p.I609I|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	728					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCCCAGATCGGCATCGCCA	0.652			NA											65	129					0	0	0.01441	0	0
SYCP1	6847	broad.mit.edu	37	1	115456644	115456644	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:115456644C>G	uc001efr.2	+	20	1905	c.1696C>G	c.(1696-1698)CAA>GAA	p.Q566E	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Q566E|SYCP1_uc009wgw.2_Missense_Mutation_p.Q566E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	566	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAATCTTCAAGAAACAGA	0.239			NA											18	36					0	0	0.007413	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302756	145302756	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:145302756C>T	uc001end.3	+	8	1229	c.1194C>T	c.(1192-1194)CTC>CTT	p.L398L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L127L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGCATCTCCAGGCCCTCC	0.552			NA											12	344					0	0	0.013537	0	0
POLR3C	10623	broad.mit.edu	37	1	145598609	145598609	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:145598609C>T	uc001eoh.2	-	8	1045	c.884G>A	c.(883-885)AGA>AAA	p.R295K	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Missense_Mutation_p.R308K|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.R295K	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	295					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGGTAGGGATCTGAAGATCTA	0.343			NA											42	139					0	0	0.009718	0	0
MTMR11	10903	broad.mit.edu	37	1	149901597	149901597	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:149901597G>A	uc001etl.3	-	16	2110	c.1859C>T	c.(1858-1860)CCA>CTA	p.P620L	SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.P548L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	620	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGCAGCCCTGGAGGTAAAGG	0.587			NA											35	170					0	0	0.013726	0	0
RFX5	5993	broad.mit.edu	37	1	151314991	151314991	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:151314991C>T	uc001exv.1	-	11	1736	c.1522G>A	c.(1522-1524)GAA>AAA	p.E508K	RFX5_uc001exw.1_Missense_Mutation_p.E508K|RFX5_uc009wmr.1_Missense_Mutation_p.E508K|RFX5_uc010pcx.1_Missense_Mutation_p.E468K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	508						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTGCCTTCCCCTCCTGAG	0.577			NA											72	210					0	0	0.01441	0	0
CD1A	909	broad.mit.edu	37	1	158225933	158225933	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158225933G>T	uc001frt.2	+	3	998	c.465G>T	c.(463-465)GGG>GGT	p.G155G		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	155	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTGGCTGGGAATATGGCCA	0.443			NA											33	90					1.22384e-17	1.46511e-17	0.013726	1	0
OR10R2	343406	broad.mit.edu	37	1	158450025	158450025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158450025C>T	uc010pik.1	+	1	358	c.358C>T	c.(358-360)CAA>TAA	p.Q120*	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TTGTGCTCTTCAAATGTTCTT	0.453			NA											121	354					0	0	0.01441	0	0
SPTA1	6708	broad.mit.edu	37	1	158596652	158596652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158596652G>T	uc001fst.1	-	41	6009	c.5810C>A	c.(5809-5811)GCT>GAT	p.A1937D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1937	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TACCACATCAGCCTTCCAGTT	0.463			NA											15	274					1.3612e-06	1.48527e-06	0.024245	1	0
MNDA	4332	broad.mit.edu	37	1	158815572	158815572	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158815572T>C	uc001fsz.1	+	5	966	c.766T>C	c.(766-768)TTG>CTG	p.L256L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	256	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					CGACATCAACTTGAAAGAGAA	0.363			NA											6	59					0	0	0.021553	0	0
IFI16	3428	broad.mit.edu	37	1	159019381	159019381	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:159019381T>G	uc001ftg.2	+	8	1779	c.1489T>G	c.(1489-1491)TTA>GTA	p.L497V	IFI16_uc010pis.1_Missense_Mutation_p.L497V|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	497					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.498			NA											37	248					0	0	0.01441	0	0
FCER1A	2205	broad.mit.edu	37	1	159277622	159277622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:159277622C>G	uc001ftq.2	+	6	773	c.674C>G	c.(673-675)TCA>TGA	p.S225*		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	225	Cytoplasmic (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTATTTATCTCAACTCAGCAG	0.438			NA											30	80					0	0	0.008361	0	0
DUSP27	92235	broad.mit.edu	37	1	167097297	167097297	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:167097297A>G	uc001geb.1	+	5	2929	c.2929A>G	c.(2929-2931)AGT>GGT	p.S977G		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	977	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TAAATCCTCCAGTTACAAGTT	0.498			NA											20	75					0	0	0.008871	0	0
SELE	6401	broad.mit.edu	37	1	169697307	169697307	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:169697307C>G	uc001ggm.3	-	8	1328	c.1171G>C	c.(1171-1173)GGG>CGG	p.G391R	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	391	Sushi 4.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					CAGCTGGACCCATAACGGAAA	0.532			NA											29	143					0	0	0.009535	0	0
PRRX1	5396	broad.mit.edu	37	1	170695456	170695456	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:170695456C>T	uc001ghf.2	+	3	560	c.513C>T	c.(511-513)GAC>GAT	p.D171D	PRRX1_uc001ghe.2_Silent_p.D171D	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTCAGGAGACGTGACTGCTG	0.557			NA											10	52					0	0	0.006214	0	0
C1orf129	80133	broad.mit.edu	37	1	170934337	170934337	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:170934337A>G	uc001ghg.2	+	7	551	c.421A>G	c.(421-423)AGA>GGA	p.R141G	C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.R141G	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	141							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGCAAGAGAGAATAATGGT	0.363			NA											30	151					0	0	0.017118	0	0
SLC9A11	284525	broad.mit.edu	37	1	173472449	173472449	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:173472449G>A	uc001giz.2	-	27	3750	c.3327C>T	c.(3325-3327)GTC>GTT	p.V1109V	SLC9A11_uc009wwe.2_Silent_p.V667V	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	1109					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GTTGTTCAAAGACCGTGTTGA	0.294			NA											16	60					0	0	0.028581	0	0
ASTN1	460	broad.mit.edu	37	1	176853571	176853571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:176853571C>A	uc001glc.2	-	19	3342	c.3130G>T	c.(3130-3132)GAA>TAA	p.E1044*	ASTN1_uc001glb.1_Nonsense_Mutation_p.E1044*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1044*	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1052	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TCTGAGTGTTCCCACTCCAGG	0.537			NA											16	106					3.41278e-10	3.85433e-10	0.00499	1	0
FAM5C	339479	broad.mit.edu	37	1	190424018	190424018	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:190424018C>G	uc001gse.1	-	2	235	c.3G>C	c.(1-3)ATG>ATC	p.M1I	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	1						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TTCGCCATATCATGCTTCCAC	0.463			NA											10	34					0	0	0.008291	0	0
KCNT2	343450	broad.mit.edu	37	1	196309587	196309587	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:196309587G>T	uc001gtd.1	-	16	1727	c.1667C>A	c.(1666-1668)ACC>AAC	p.T556N	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T506N|KCNT2_uc001gtf.1_Missense_Mutation_p.T556N|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T556N|KCNT2_uc001gth.1_Missense_Mutation_p.T77N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	556	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CTCTTCTTTGGTAATATTAAT	0.358			NA											5	136					1.23904e-05	1.34497e-05	0.014758	1	0
CENPF	1063	broad.mit.edu	37	1	214830338	214830338	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:214830338C>T	uc001hkm.2	+	18	8722	c.8548C>T	c.(8548-8550)CTT>TTT	p.L2850F		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2946	Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAGAAACTCTTGAAGAAAA	0.368	Colon(80;575 1284 11000 14801 43496)		NA											15	62					0	0	0.024245	0	0
USH2A	7399	broad.mit.edu	37	1	216371906	216371906	+	Missense_Mutation	SNP	G	G	C	rs150978513	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:216371906G>C	uc001hku.1	-	18	4219	c.3832C>G	c.(3832-3834)CTA>GTA	p.L1278V	USH2A_uc001hkv.2_Missense_Mutation_p.L1278V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1278	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCATGTATAGTTCATATCTT	0.388			NA								HNSCC(13;0.011)			13	50					0	0	0.028581	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125264	226125264	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:226125264C>A	uc001hpt.1	-	4	1058	c.978G>T	c.(976-978)ATG>ATT	p.M326I	LEFTY2_uc010pvk.1_Missense_Mutation_p.M292I|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	326					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					TGCTGACGATCATGGGCAGCG	0.662	Colon(172;116 2643 9098 43333)		NA											15	49					1.3612e-06	1.48527e-06	0.024245	1	0
MTR	4548	broad.mit.edu	37	1	237057846	237057846	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237057846C>T	uc001hyi.3	+	30	3817	c.3394C>T	c.(3394-3396)CGG>TGG	p.R1132W	MTR_uc010pxw.1_Missense_Mutation_p.R725W|MTR_uc010pxx.1_Missense_Mutation_p.R1081W|MTR_uc010pxy.1_Missense_Mutation_p.R986W	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1132	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTGGGGGACCGGCTGGCAGA	0.612			NA											10	82					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237806644	237806644	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237806644G>C	uc001hyl.1	+	48	7359	c.7239G>C	c.(7237-7239)AAG>AAC	p.K2413N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2413	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCGGGAAGGGAGAAGCCA	0.413			NA											65	223					0	0	0.01441	0	0
RYR2	6262	broad.mit.edu	37	1	237947171	237947171	+	Missense_Mutation	SNP	G	G	C	rs41267517		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237947171G>C	uc001hyl.1	+	90	12279	c.12159G>C	c.(12157-12159)GAG>GAC	p.E4053D	RYR2_uc010pya.1_Missense_Mutation_p.E468D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4053	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCGATGGAGAGCCATAAGC	0.448			NA											4	40					0	0	0.009096	0	0
SCCPDH	51097	broad.mit.edu	37	1	246922379	246922379	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:246922379C>G	uc001ibr.2	+	7	1086	c.739C>G	c.(739-741)CCT>GCT	p.P247A		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	247						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTATTCCATTCCTTTTATGGG	0.363			NA											41	172					0	0	0.011902	0	0
AHCTF1	25909	broad.mit.edu	37	1	247068858	247068858	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:247068858T>C	uc001ibu.1	-	5	873	c.866A>G	c.(865-867)CAG>CGG	p.Q289R	AHCTF1_uc001ibv.1_Missense_Mutation_p.Q298R	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	289	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGTGTAGACTGAACAGCCCA	0.264	Colon(145;197 1800 4745 15099 26333)		NA											29	73					0	0	0.012213	0	0
OR1C1	26188	broad.mit.edu	37	1	247921160	247921160	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:247921160A>G	uc010pza.1	-	1	549	c.549T>C	c.(547-549)CCT>CCC	p.P183P		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTGCAGGAGAGGATTGAGAT	0.468			NA											13	36					0	0	0.028581	0	0
OR2M4	26245	broad.mit.edu	37	1	248402282	248402282	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248402282T>G	uc010pzh.1	+	1	52	c.52T>G	c.(52-54)TTC>GTC	p.F18V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGGGAATCTTCAATCACAG	0.438			NA											15	177					0	0	0.007413	0	0
OR2T2	401992	broad.mit.edu	37	1	248616758	248616758	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248616758G>A	uc001iek.1	+	1	660	c.660G>A	c.(658-660)ACG>ACA	p.T220T		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCTACACGCACATCCTCC	0.527			NA											31	17					0	0	0.007291	0	0
OR2T10	127069	broad.mit.edu	37	1	248756476	248756476	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248756476G>A	uc010pzn.1	-	1	594	c.594C>T	c.(592-594)TTC>TTT	p.F198F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAAGTACATGAAAATCTTGT	0.448			NA											20	92					0	0	0.007413	0	0
LARP4B	23185	broad.mit.edu	37	10	875438	875438	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:875438C>T	uc001ifs.1	-	10	1053	c.1012G>A	c.(1012-1014)GCG>ACG	p.A338T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	338							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AACGACGTCGCGTAGCGCTGC	0.532			NA											5	52					0	0	0.014758	0	0
KLF6	1316	broad.mit.edu	37	10	3822298	3822298	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:3822298C>A	uc001iha.2	-	3	1067	c.800G>T	c.(799-801)AGG>ATG	p.R267M	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.R225M	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	267	C2H2-type 3.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		AGGCACGTACCTGTCACAGTG	0.552			NA											12	33					1.5842e-08	1.77008e-08	0.016723	1	0
DCLRE1C	64421	broad.mit.edu	37	10	14987175	14987175	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:14987175G>C	uc001inn.2	-	3	260	c.175C>G	c.(175-177)CTA>GTA	p.L59V	DCLRE1C_uc010qbx.1_Missense_Mutation_p.L59V|DCLRE1C_uc001inl.2_Translation_Start_Site|DCLRE1C_uc009xji.2_Translation_Start_Site|DCLRE1C_uc001inm.2_Translation_Start_Site|DCLRE1C_uc001ino.2_Translation_Start_Site|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Translation_Start_Site|DCLRE1C_uc001inq.2_Translation_Start_Site|DCLRE1C_uc001inr.2_Intron	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	59					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GAACAGTATAGATAAACCTTC	0.299			NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					23	27					0	0	0.00632	0	0
CUBN	8029	broad.mit.edu	37	10	16994356	16994356	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:16994356C>T	uc001ioo.2	-	33	4940	c.4888G>A	c.(4888-4890)GAT>AAT	p.D1630N		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1630	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACAGTATCAAATGAGCTG	0.433			NA											21	106					0	0	0.010504	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762918	24762918	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:24762918C>T	uc001iru.3	+	6	2011	c.1608C>T	c.(1606-1608)CTC>CTT	p.L536L	KIAA1217_uc001irs.2_Silent_p.L456L|KIAA1217_uc001irt.3_Silent_p.L536L|KIAA1217_uc010qcy.1_Silent_p.L536L|KIAA1217_uc010qcz.1_Silent_p.L536L|KIAA1217_uc001irv.1_Silent_p.L386L|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.L254L|KIAA1217_uc001irz.2_Silent_p.L254L|KIAA1217_uc001irx.2_Silent_p.L254L|KIAA1217_uc001iry.2_Silent_p.L254L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	536					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TTGTAGACCTCGGCCCTCCTC	0.557			NA											7	78					0	0	0.004482	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762928	24762928	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:24762928C>G	uc001iru.3	+	6	2021	c.1618C>G	c.(1618-1620)CTA>GTA	p.L540V	KIAA1217_uc001irs.2_Missense_Mutation_p.L460V|KIAA1217_uc001irt.3_Missense_Mutation_p.L540V|KIAA1217_uc010qcy.1_Missense_Mutation_p.L540V|KIAA1217_uc010qcz.1_Missense_Mutation_p.L540V|KIAA1217_uc001irv.1_Missense_Mutation_p.L390V|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.L258V|KIAA1217_uc001irz.2_Missense_Mutation_p.L258V|KIAA1217_uc001irx.2_Missense_Mutation_p.L258V|KIAA1217_uc001iry.2_Missense_Mutation_p.L258V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	540					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CGGCCCTCCTCTAATGGAGAA	0.552			NA											5	76					0	0	0.001984	0	0
Unknown	0	broad.mit.edu	37	10	48902261	48902261	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:48902261C>T	uc009xnv.2	-	3	718	c.612G>A	c.(610-612)AAG>AAA	p.K204K		NM_001077686	NP_001071154			ArfGAP with GTPase domain, ankyrin repeat and PH												NA						TGGTGCTTTTCTTCTTTAGGT	0.527			NA											22	26					0	0	0.010818	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391780	75391780	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:75391780G>C	uc001jur.2	-	6	1173	c.808C>G	c.(808-810)CGA>GGA	p.R270G		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	270					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					ATAGGGGTTCGATTGAAAGAA	0.537			NA											21	33					0	0	0.010504	0	0
VWA2	340706	broad.mit.edu	37	10	116045881	116045881	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:116045881C>T	uc001lbl.1	+	11	1502	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	VWA2_uc001lbk.1_Missense_Mutation_p.A394V|VWA2_uc009xyf.1_Missense_Mutation_p.A90V	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	394	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGCTGGTGGCGGTGCCTGTG	0.667			NA											9	97					0	0	0.006214	0	0
KNDC1	85442	broad.mit.edu	37	10	135038376	135038376	+	Missense_Mutation	SNP	G	G	A	rs141333921		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:135038376G>A	uc001llz.1	+	30	5233	c.5232G>A	c.(5230-5232)ATG>ATA	p.M1744I		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1744					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACGGAGGATGAAGGCTACAT	0.612			NA											3	19					0	0	0.004672	0	0
MUC2	4583	broad.mit.edu	37	11	1096391	1096391	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:1096391G>A	uc001lsx.1	+	37	13529	c.13502G>A	c.(13501-13503)GGC>GAC	p.G4501D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4501	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCTACCAGGGCAACTGCACC	0.602			NA											3	55					0	0	0.004672	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929522	2929522	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:2929522C>T	uc001lwx.2	+	3	422	c.204C>T	c.(202-204)TTC>TTT	p.F68F	SLC22A18_uc001lwy.2_Silent_p.F68F|SLC22A18_uc001lwz.2_Silent_p.F68F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	68	Helical; (Potential).				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAACCACCTTCGGGGTGCTGC	0.627			NA											7	46					0	0	0.008291	0	0
OR52R1	119695	broad.mit.edu	37	11	4825130	4825130	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:4825130G>T	uc010qym.1	-	1	718	c.718C>A	c.(718-720)CCC>ACC	p.P240T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	161	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCAGAAGGGGCTCACCCAC	0.562			NA											18	62					3.41278e-10	3.85433e-10	0.00499	1	0
OR51A4	401666	broad.mit.edu	37	11	4967632	4967632	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:4967632C>A	uc010qys.1	-	1	699	c.699G>T	c.(697-699)AAG>AAT	p.K233N		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCTGCTCCTTTTTGGATG	0.468			NA											33	50					8.16721e-17	9.66684e-17	0.010818	1	0
OR2D2	120776	broad.mit.edu	37	11	6913260	6913260	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:6913260C>A	uc010rau.1	-	1	472	c.472G>T	c.(472-474)GTA>TTA	p.V158L		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGTGTCTACCACAGACACC	0.498			NA											19	51					1.67942e-08	1.87148e-08	0.006122	1	0
TPH1	7166	broad.mit.edu	37	11	18057575	18057575	+	Missense_Mutation	SNP	G	G	C	rs146455709	byFrequency	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:18057575G>C	uc001mnp.2	-	2	258	c.232C>G	c.(232-234)CAT>GAT	p.H78D	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	78	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCAGCAGATGAAAAATATCA	0.323			NA											4	76					0	0	0.014758	0	0
NAV2	89797	broad.mit.edu	37	11	19970312	19970312	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:19970312G>T	uc010rdm.1	+	11	2761	c.2400G>T	c.(2398-2400)AGG>AGT	p.R800S	NAV2_uc001mpp.2_Missense_Mutation_p.R713S|NAV2_uc001mpr.3_Missense_Mutation_p.R777S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	800						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGACAGGGAGGCCCACACCTC	0.572			NA											11	60					3.07112e-06	3.34233e-06	0.010729	1	0
PAMR1	25891	broad.mit.edu	37	11	35453913	35453913	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:35453913A>G	uc001mwg.2	-	11	2197	c.2154T>C	c.(2152-2154)AAT>AAC	p.N718N	PAMR1_uc001mwf.2_Silent_p.N735N|PAMR1_uc010rew.1_Silent_p.N607N|PAMR1_uc010rex.1_Silent_p.N678N	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	718	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						TTCATTTCATATTTCTTTCAA	0.463			NA											6	61					0	0	0.001984	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36103258	36103258	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:36103258T>C	uc001mwk.1	+	3	286	c.249T>C	c.(247-249)CAT>CAC	p.H83H	LDLRAD3_uc010rey.1_Silent_p.H34H|LDLRAD3_uc010rez.1_5'UTR	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	83	Extracellular (Potential).|LDL-receptor class A 2.					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GCGGCATCCATTGCATCATTG	0.517			NA											8	110					0	0	0.00308	0	0
OR5L2	26338	broad.mit.edu	37	11	55594902	55594902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55594902G>A	uc001nhy.1	+	1	208	c.208G>A	c.(208-210)GAT>AAT	p.D70N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GTCCTTTGTAGATTTCTGCTA	0.463			NA								HNSCC(27;0.073)			91	194					0	0	0.01441	0	0
OR5I1	10798	broad.mit.edu	37	11	55703807	55703807	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55703807C>T	uc010ris.1	-	1	70	c.70G>A	c.(70-72)GAA>AAA	p.E24K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATCTGCAGTTCAGGGCGAGTT	0.378			NA											4	30					0	0	0.021553	0	0
OR8J3	81168	broad.mit.edu	37	11	55904846	55904846	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55904846C>A	uc010riz.1	-	1	349	c.349G>T	c.(349-351)GTG>TTG	p.V117L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TAGGCCATCACAGCCAGCATC	0.488			NA											37	93					5.43694e-19	6.58404e-19	0.023175	1	0
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:56043714T>A	uc001nio.1	+	1	600	c.600T>A	c.(598-600)TCT>TCA	p.S200S		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	200	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398			NA											19	242					0	0	0.008871	0	0
OR5M3	219482	broad.mit.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	G	rs148100298	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:56237502T>G	uc010rjk.1	-	1	472	c.472A>C	c.(472-474)ACA>CCA	p.T158P		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)		ovary(2)	2	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428			NA											4	143					0	0	0.009096	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714087	60714087	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:60714087G>C	uc001nqn.2	-	2	999	c.765C>G	c.(763-765)CCC>CCG	p.P255P	SLC15A3_uc001nqo.2_Silent_p.P255P	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	255					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						TGCCCATCGGGGGCTTGGTGA	0.587			NA											23	59					0	0	0.01892	0	0
RBM14	10432	broad.mit.edu	37	11	66391877	66391877	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:66391877G>A	uc001oit.2	+	2	669	c.530G>A	c.(529-531)GGA>GAA	p.G177E	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	177					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GCCTTCCCTGGAACTGGTGGC	0.597			NA											21	33					0	0	0.012319	0	0
CCND1	595	broad.mit.edu	37	11	69458698	69458699	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:69458698_69458699GG>TA	uc001opa.2	+	3	722_723	c.513_514GG>TA	c.(511-516)GCGGAG>GCTAAG	p.E172K		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	172					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCCAGAGGCGGAGGAGAACAA	0.589	Pancreas(65;393 884 2788 21700 24360 27795 36895)		NA	T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			27	36					0	0	0.004672	0	0
RNF121	55298	broad.mit.edu	37	11	71701662	71701662	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:71701662A>G	uc001ora.2	+	6	866	c.526A>G	c.(526-528)ATG>GTG	p.M176V	RNF121_uc001ord.2_Missense_Mutation_p.M95V|RNF121_uc001orb.2_Missense_Mutation_p.M144V|RNF121_uc009yst.2_Missense_Mutation_p.M144V	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	176	Helical; (Potential).					integral to membrane	zinc ion binding				0						AGAAGATGCCATGGACTTTGG	0.473			NA											53	119					0	0	0.01441	0	0
NUMA1	4926	broad.mit.edu	37	11	71727042	71727042	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:71727042G>A	uc001orl.1	-	15	1679	c.1507C>T	c.(1507-1509)CTG>TTG	p.L503L	NUMA1_uc009ysw.1_Silent_p.L66L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L503L|NUMA1_uc001orn.2_Silent_p.L66L|NUMA1_uc009ysx.1_Silent_p.L503L|NUMA1_uc001oro.1_Silent_p.L503L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	503	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TCAGAGGTCAGAGAGGCCACC	0.612			NA	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	116					0	0	0.028581	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73075516	73075516	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:73075516G>C	uc001otu.2	+	18	5442	c.5421G>C	c.(5419-5421)CAG>CAC	p.Q1807H		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1807					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGGACCCCCAGAACTTCAAAT	0.448			NA											25	86					0	0	0.01892	0	0
RSF1	51773	broad.mit.edu	37	11	77388035	77388035	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:77388035C>T	uc001oyn.2	-	13	3263	c.3143G>A	c.(3142-3144)CGA>CAA	p.R1048Q	RSF1_uc001oym.2_Missense_Mutation_p.R796Q	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1048					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCTTTTCCTCGGCCAACTCC	0.418			NA											7	117					0	0	0.00308	0	0
DDI1	414301	broad.mit.edu	37	11	103908057	103908057	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:103908057A>C	uc001phr.2	+	1	750	c.507A>C	c.(505-507)GAA>GAC	p.E169D	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	169					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTTGGCGGAAGCCCTGCTCA	0.602			NA											6	67					0	0	0.021553	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558341	106558341	+	Silent	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:106558341A>C	uc001pjg.1	-	8	2523	c.2133T>G	c.(2131-2133)TCT>TCG	p.S711S	GUCY1A2_uc010rvo.1_Silent_p.S732S|GUCY1A2_uc009yxn.1_Silent_p.S742S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	711					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTCGACGAAGAAAGAGAAG	0.478			NA											14	214					0	0	0.020292	0	0
USP28	57646	broad.mit.edu	37	11	113675628	113675628	+	Silent	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:113675628C>A	uc001poh.2	-	20	2574	c.2541G>T	c.(2539-2541)CTG>CTT	p.L847L	USP28_uc001pog.2_Silent_p.L523L|USP28_uc010rwy.1_Silent_p.L690L|USP28_uc001poi.2_Silent_p.L170L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	847					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAAACTGTTCCAGAAGGGTTC	0.448	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)		NA											25	53					1.64293e-13	1.9069e-13	0.01892	1	0
TM7SF3	51768	broad.mit.edu	37	12	27128447	27128447	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:27128447C>T	uc010sjl.1	-	11	1670	c.1432G>A	c.(1432-1434)GTG>ATG	p.V478M		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	478						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					TGAAAAGGCACATTTGTGAAA	0.433			NA											21	56					0	0	0.008871	0	0
OVCH1	341350	broad.mit.edu	37	12	29617518	29617518	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:29617518C>A	uc001rix.1	-	18	2047	c.2047G>T	c.(2047-2049)GTA>TTA	p.V683L		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	683	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGGAGACATACTGGCCTCACC	0.463			NA											22	49					2.89027e-11	3.32698e-11	0.014323	1	0
TUBA1A	7846	broad.mit.edu	37	12	49578828	49578828	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:49578828C>G	uc009zlf.2	-	4	1593	c.1321G>C	c.(1321-1323)GAA>CAA	p.E441Q	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.E441Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.E288Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.E288Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.E288Q	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	441					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CCCTCTCCTTCAACAGAATCC	0.463	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)		NA											11	242					0	0	0.010729	0	0
TROAP	10024	broad.mit.edu	37	12	49724414	49724414	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:49724414G>A	uc001rtx.3	+	13	1953	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	TROAP_uc009zlh.2_Missense_Mutation_p.E596K|TROAP_uc001rty.2_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	596	Cys-rich.|4 X 33 AA approximate tandem repeats.|3.				cell adhesion	cytoplasm				ovary(1)	1						CTGTAGGATTGAGCCTGAGAT	0.627			NA											8	88					0	0	0.006214	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514975	56514975	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:56514975G>A	uc001sjp.1	+	3	818	c.629G>A	c.(628-630)CGG>CAG	p.R210Q		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	210							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAAAACGCCGGCGAGGTGGA	0.557			NA											4	68					0	0	0.009096	0	0
CNPY2	10330	broad.mit.edu	37	12	56708678	56708678	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:56708678C>A	uc001sku.1	-	3	702	c.161G>T	c.(160-162)GGA>GTA	p.G54V	CNPY2_uc001skv.2_Missense_Mutation_p.G54V	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog precursor	54	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0						CCGGAAAGATCCCATCTGAAT	0.507			NA											46	87					1.19451e-25	1.48077e-25	0.01441	1	0
OSBPL8	114882	broad.mit.edu	37	12	76763494	76763494	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:76763494T>A	uc001sye.1	-	20	2643	c.2163A>T	c.(2161-2163)AAA>AAT	p.K721N	OSBPL8_uc001syf.1_Missense_Mutation_p.K679N|OSBPL8_uc001syg.1_Missense_Mutation_p.K679N|OSBPL8_uc001syh.1_Missense_Mutation_p.K696N	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	721					lipid transport		lipid binding			ovary(1)	1						CATTTTTTGTTTTCCGATCCC	0.388			NA											13	78					0	0	0.024245	0	0
TSPAN19	144448	broad.mit.edu	37	12	85411261	85411261	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:85411261C>T	uc009zsj.2	-	7	669	c.568G>A	c.(568-570)GAG>AAG	p.E190K		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	tetraspanin 19	190						integral to membrane				ovary(1)	1						TTCAGTGGCTCATCACAAAAC	0.289			NA											8	17					0	0	0.004482	0	0
ATP2B1	490	broad.mit.edu	37	12	89992965	89992965	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:89992965C>T	uc001tbh.2	-	19	3461	c.3280G>A	c.(3280-3282)GAT>AAT	p.D1094N	ATP2B1_uc001tbg.2_Missense_Mutation_p.D1094N|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Missense_Mutation_p.D728N	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1094	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCAGCGTGATCAATCTCTTCA	0.453			NA											30	102					0	0	0.007291	0	0
USP44	84101	broad.mit.edu	37	12	95927518	95927518	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:95927518C>T	uc001teg.2	-	2	659	c.515G>A	c.(514-516)GGA>GAA	p.G172E	USP44_uc001teh.2_Missense_Mutation_p.G172E|USP44_uc009zte.2_Missense_Mutation_p.G169E	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	172					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						CTTTTTTCTTCCAATGGGTGA	0.363			NA											30	78					0	0	0.013726	0	0
GOLGA2B	55592	broad.mit.edu	37	12	100551822	100551822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:100551822G>A	uc001tgs.2	-	3	475	c.31C>T	c.(31-33)CAG>TAG	p.Q11*	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Nonsense_Mutation_p.Q11*	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						GGCATGGGCTGAGGCACCTCC	0.642			NA											10	32					0	0	0.006214	0	0
DRAM1	55332	broad.mit.edu	37	12	102302092	102302092	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:102302092C>T	uc001tix.2	+	4	934	c.471C>T	c.(469-471)TGC>TGT	p.C157C	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	157					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TCTCGACATGCCACATACGGA	0.443			NA											4	164					0	0	0.009096	0	0
IFT81	28981	broad.mit.edu	37	12	110618328	110618328	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:110618328G>A	uc001tqi.2	+	12	1420	c.1290G>A	c.(1288-1290)AGG>AGA	p.R430R	IFT81_uc001tqh.2_Silent_p.R430R|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	430	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TTTTGCAGAGGACTGAAGAAC	0.343			NA											10	50					0	0	0.013537	0	0
SDS	10993	broad.mit.edu	37	12	113830941	113830941	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:113830941G>T	uc001tvg.2	-	8	914	c.792C>A	c.(790-792)ATC>ATA	p.I264I		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	264					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTCCACCAGGATCTTCTCAT	0.632			NA											36	72					3.66082e-28	4.56513e-28	0.023175	1	0
RBM19	9904	broad.mit.edu	37	12	114397877	114397877	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:114397877G>A	uc009zwi.2	-	3	470	c.326C>T	c.(325-327)CCA>CTA	p.P109L	RBM19_uc001tvn.3_Missense_Mutation_p.P109L|RBM19_uc001tvm.2_Missense_Mutation_p.P109L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	109					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTAATTTCTGGAGTAGTAGA	0.532			NA											30	87					0	0	0.009535	0	0
TESC	54997	broad.mit.edu	37	12	117513112	117513112	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:117513112C>A	uc001twh.2	-	2	256	c.251G>T	c.(250-252)AGA>ATA	p.R84I	TESC_uc001twi.2_RNA	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	tescalcin	31					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CTGCTTAAATCTCCGATGGAG	0.498			NA											29	70					3.76114e-14	4.402e-14	0.019004	1	0
CCDC60	160777	broad.mit.edu	37	12	119909847	119909847	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:119909847G>C	uc001txe.2	+	3	684	c.219G>C	c.(217-219)CTG>CTC	p.L73L	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	73	Potential.									ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTGCTATTCTGAGGGAAGAGA	0.458			NA											50	105					0	0	0.01441	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353279	133353279	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:133353279G>A	uc001ukz.1	-	21	4478	c.3919C>T	c.(3919-3921)CTG>TTG	p.L1307L	GOLGA3_uc001ula.1_Silent_p.L1307L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1307	Potential.|Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCAAGTCCAGCTGCTGCTTC	0.527			NA											43	77					0	0	0.013114	0	0
IFT88	8100	broad.mit.edu	37	13	21265279	21265279	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:21265279G>C	uc001unh.2	+	28	2863	c.2467G>C	c.(2467-2469)GAT>CAT	p.D823H	IFT88_uc001uni.2_Missense_Mutation_p.D814H|IFT88_uc001unj.2_Missense_Mutation_p.D813H|IFT88_uc010tcq.1_Missense_Mutation_p.D794H	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	823					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGATTTTGCTGATGAAGAATT	0.373			NA											29	61					0	0	0.027356	0	0
ATP8A2	51761	broad.mit.edu	37	13	26043143	26043143	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:26043143G>A	uc001uqk.2	+	2	247	c.105G>A	c.(103-105)AAG>AAA	p.K35K	ATP8A2_uc010tdi.1_5'UTR|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_5'UTR	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	Error:Variant_position_missing_in_Q9NTI2_after_alignment					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGGCTATAAGAAGGCAGAGG	0.557			NA											9	76					0	0	0.004482	0	0
ATP8A2	51761	broad.mit.edu	37	13	26436463	26436463	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:26436463A>C	uc001uqk.2	+	33	3242	c.3100A>C	c.(3100-3102)AGC>CGC	p.S1034R	ATP8A2_uc010tdi.1_Missense_Mutation_p.S969R|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.S584R	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	994	Helical; (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTCTGGGGAAGCATGCTGAC	0.527			NA											10	84					0	0	0.010729	0	0
USPL1	10208	broad.mit.edu	37	13	31232310	31232310	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:31232310A>T	uc001utc.2	+	9	2528	c.2096A>T	c.(2095-2097)GAC>GTC	p.D699V	USPL1_uc001utd.2_Missense_Mutation_p.D370V|USPL1_uc001ute.1_Missense_Mutation_p.D370V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	699					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATTGAGAAGGACGCTCAGTTA	0.348	Ovarian(60;318 1180 1554 28110 31601)		NA											13	33					0	0	0.016723	0	0
DCLK1	9201	broad.mit.edu	37	13	36379850	36379850	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:36379850G>A	uc001uvf.2	-	15	2163	c.1930C>T	c.(1930-1932)CAT>TAT	p.H644Y	DCLK1_uc001uve.3_Missense_Mutation_p.H337Y|DCLK1_uc010teh.1_Missense_Mutation_p.H337Y|DCLK1_uc010abk.2_Missense_Mutation_p.H164Y	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	644	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCCAGGGATGCTCAAGTACT	0.408			NA											53	119					0	0	0.01441	0	0
ENOX1	55068	broad.mit.edu	37	13	43788178	43788178	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:43788178G>A	uc001uza.3	-	17	2180	c.1880C>T	c.(1879-1881)ACG>ATG	p.T627M	ENOX1_uc001uzb.3_Missense_Mutation_p.T627M|ENOX1_uc001uzc.3_Missense_Mutation_p.T627M|ENOX1_uc001uyz.3_Missense_Mutation_p.T236M	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	627					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTTTTCCAGCGTGGCTCCCAC	0.438			NA											33	79					0	0	0.012213	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752734	49752734	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:49752734G>C	uc001vcm.2	+	14	1866	c.1561G>C	c.(1561-1563)GAA>CAA	p.E521Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.E521Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E447Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E465Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	521	Fibronectin type-III 3.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATATGATGGAGAAGATCTTGC	0.323			NA											30	77					0	0	0.012213	0	0
NALCN	259232	broad.mit.edu	37	13	101910917	101910917	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:101910917C>A	uc001vox.1	-	11	1332	c.1143G>T	c.(1141-1143)ATG>ATT	p.M381I	NALCN_uc001voy.2_Missense_Mutation_p.M96I|NALCN_uc001voz.2_Missense_Mutation_p.M381I|NALCN_uc001vpa.2_Missense_Mutation_p.M381I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	381	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGATGACCGCATCATTTTCT	0.463			NA											4	47					0.00909568	0.00964833	0.009096	1	0
GRK1	6011	broad.mit.edu	37	13	114322111	114322111	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:114322111G>A	uc010tkf.1	+	1	518	c.410G>A	c.(409-411)GGG>GAG	p.G137E		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	137	RGS.|N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTTAAGGAGGGGCCTGTGGAG	0.637			NA											4	11					0	0	0.009096	0	0
RNASE10	338879	broad.mit.edu	37	14	20978765	20978765	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:20978765G>T	uc010tlj.1	+	1	135	c.135G>T	c.(133-135)TGG>TGT	p.W45C	RNASE10_uc001vxp.2_Missense_Mutation_p.W73C	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	45						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ATGAATTTTGGTCCAGTGACT	0.398			NA											57	85					6.75472e-32	8.49919e-32	0.01441	1	0
DACT1	51339	broad.mit.edu	37	14	59105173	59105173	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:59105173C>T	uc001xdw.2	+	1	417	c.253C>T	c.(253-255)CGC>TGC	p.R85C	DACT1_uc010trv.1_Intron|DACT1_uc001xdx.2_Missense_Mutation_p.R85C|DACT1_uc010trw.1_5'Flank	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	85					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						cgctgcgccccgcgcTGGGGA	0.478			NA											6	6					0	0	0.001984	0	0
RGS6	9628	broad.mit.edu	37	14	72945014	72945014	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:72945014G>C	uc001xna.3	+	12	1354	c.831G>C	c.(829-831)TTG>TTC	p.L277F	RGS6_uc010ttn.1_Missense_Mutation_p.L277F|RGS6_uc001xmx.3_Missense_Mutation_p.L277F|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L277F|RGS6_uc010ttp.1_Missense_Mutation_p.L208F|RGS6_uc001xmz.1_Missense_Mutation_p.L138F	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	277	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GACATTGTTTGAAAATGTCCA	0.338	Ovarian(143;1926 2468 21071 48641)		NA											6	34					0	0	0.021553	0	0
DNAL1	83544	broad.mit.edu	37	14	74154042	74154042	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:74154042G>A	uc001xoq.3	+	6	510	c.345G>A	c.(343-345)AAG>AAA	p.K115K	DNAL1_uc010aru.2_Silent_p.K76K|DNAL1_uc010arv.2_RNA	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	115	LRR 3.										0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		ACATAATGAAGAAATTGAAGA	0.388			NA											17	35					0	0	0.028581	0	0
NRXN3	9369	broad.mit.edu	37	14	79175708	79175708	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:79175708A>C	uc001xun.2	+	4	742	c.251A>C	c.(250-252)TAC>TCC	p.Y84S	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.Y218S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	457	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGAGGCTTACATCAGCTTG	0.502			NA											3	71					0	0	0.004672	0	0
BAG5	9529	broad.mit.edu	37	14	104026973	104026973	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:104026973C>T	uc001yni.1	-	2	763	c.529G>A	c.(529-531)GAG>AAG	p.E177K	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E218K|BAG5_uc001ynj.1_Missense_Mutation_p.E177K|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	177					apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			TGTGCATCCTCGGAAAGCGGC	0.493	NSCLC(171;1832 2055 18950 31566 41632)		NA											22	84					0	0	0.014323	0	0
GJD2	57369	broad.mit.edu	37	15	35044898	35044898	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:35044898C>G	uc001zis.1	-	2	747	c.747G>C	c.(745-747)GAG>GAC	p.E249D	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	249	Extracellular (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGACAGTCTTCTCAGTTGGCC	0.493			NA											21	51					0	0	0.008871	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42378515	42378515	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:42378515C>T	uc001zox.2	-	4	378	c.283G>A	c.(283-285)GAG>AAG	p.E95K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	95	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACTGAGTCCTCATCATAGATG	0.493			NA											8	114					0	0	0.004482	0	0
C15orf43	145645	broad.mit.edu	37	15	45270711	45270711	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:45270711A>G	uc001zuk.2	+	7	565	c.548A>G	c.(547-549)AAG>AGG	p.K183R		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	183											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GATGCCATGAAGAAATTCCTT	0.294			NA											24	78					0	0	0.024334	0	0
MYEF2	50804	broad.mit.edu	37	15	48446077	48446078	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:48446077_48446078GC>AA	uc001zwi.3	-	10	1122_1123	c.998_999GC>TT	c.(997-999)GGC>GTT	p.G333V	MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Missense_Mutation_p.G333V|MYEF2_uc001zwl.2_Missense_Mutation_p.G173V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	333	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCATCCCAATGCCTCCAAGACC	0.386			NA											4	23					0	0	0.004672	0	0
ACAN	176	broad.mit.edu	37	15	89399981	89399981	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:89399981G>C	uc010upo.1	+	12	4539	c.4165G>C	c.(4165-4167)GAG>CAG	p.E1389Q	ACAN_uc010upp.1_Missense_Mutation_p.E1389Q|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1389					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCTGGAGTAGAGGACATCAG	0.542			NA											6	222					0	0	0.016723	0	0
POLG	5428	broad.mit.edu	37	15	89862318	89862318	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:89862318C>G	uc002bns.3	-	20	3399	c.3117G>C	c.(3115-3117)AAG>AAC	p.K1039N	POLG_uc002bnr.3_Missense_Mutation_p.K1039N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1039					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTCCCACTTCTTCCACTGTG	0.502	Colon(73;648 1203 11348 18386 27782)		NA						DNA_polymerases_(catalytic_subunits)					27	70					0	0	0.007291	0	0
MCTP2	55784	broad.mit.edu	37	15	94858848	94858848	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:94858848G>T	uc002btj.2	+	3	684	c.619G>T	c.(619-621)GTT>TTT	p.V207F	MCTP2_uc010urg.1_Missense_Mutation_p.V207F|MCTP2_uc002bti.2_Missense_Mutation_p.V207F|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.V207F|MCTP2_uc002btg.3_Missense_Mutation_p.V207F|MCTP2_uc002bth.3_Missense_Mutation_p.V207F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	207	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGAACCTGGTTGTCCGAGA	0.527			NA											14	32					6.31663e-08	6.98329e-08	0.024245	1	0
LRRK1	79705	broad.mit.edu	37	15	101593183	101593183	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:101593183G>A	uc002bwr.2	+	25	4065	c.3746G>A	c.(3745-3747)GGC>GAC	p.G1249D	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1249	ATP (By similarity).|Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCGTCCTGGGCCAGGGCGGC	0.632			NA											25	44					0	0	0.00632	0	0
TELO2	9894	broad.mit.edu	37	16	1555456	1555456	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:1555456G>T	uc002cly.2	+	16	2179	c.1888G>T	c.(1888-1890)GGG>TGG	p.G630W		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	630						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				TGGGTGCCTCGGGAGGACTCC	0.677			NA											23	19					7.41877e-09	8.31141e-09	0.012319	1	0
CIITA	4261	broad.mit.edu	37	16	10996625	10996625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:10996625G>T	uc002dai.3	+	8	872	c.739G>T	c.(739-741)GGA>TGA	p.G247*	CIITA_uc002daj.3_Nonsense_Mutation_p.G248*|CIITA_uc002dak.3_Nonsense_Mutation_p.G198*|CIITA_uc002dag.2_Nonsense_Mutation_p.G247*|CIITA_uc002dah.2_Nonsense_Mutation_p.G199*|CIITA_uc010bup.1_Nonsense_Mutation_p.G247*	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	247					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CTCTGAGGCTGGAACAGGGGT	0.592			NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								26	45					1.85244e-09	2.08089e-09	0.01892	1	0
PRKCB	5579	broad.mit.edu	37	16	23847514	23847514	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:23847514G>T	uc002dmd.2	+	1	215	c.18G>T	c.(16-18)GCG>GCT	p.A6A	PRKCB_uc002dme.2_Silent_p.A6A	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	6					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	ACCCGGCTGCGGGGCCGCCGC	0.512			NA											5	15					5.9392e-07	6.51446e-07	0.021553	1	0
RBBP6	5930	broad.mit.edu	37	16	24582309	24582309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:24582309G>T	uc002dmh.2	+	18	4962	c.3922G>T	c.(3922-3924)GAA>TAA	p.E1308*	RBBP6_uc002dmi.2_Nonsense_Mutation_p.E1274*|RBBP6_uc010bxr.2_Nonsense_Mutation_p.E468*|RBBP6_uc002dmk.2_Nonsense_Mutation_p.E1141*	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CGCGCCAGCTGAAGATGTTAT	0.378			NA											7	47					0.00198382	0.00211506	0.001984	1	0
ABCC11	85320	broad.mit.edu	37	16	48201504	48201504	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:48201504A>T	uc002eff.1	-	28	4309	c.3959T>A	c.(3958-3960)ATC>AAC	p.I1320N	ABCC11_uc002efg.1_Missense_Mutation_p.I1320N|ABCC11_uc002efh.1_Missense_Mutation_p.I1282N|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1320	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGCTTCACGGATTGTGCGCTG	0.532			NA							Cerumen_Type				46	98					0	0	0.01441	0	0
SALL1	6299	broad.mit.edu	37	16	51174300	51174300	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:51174300T>G	uc010vgs.1	-	2	1864	c.1833A>C	c.(1831-1833)GAA>GAC	p.E611D	SALL1_uc010vgr.1_Missense_Mutation_p.E514D|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	611					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCTTCGGCTTCCTCTGGGA	0.622	GBM(103;1352 1446 1855 4775 8890)		NA											4	41					0	0	0.014758	0	0
CCDC135	84229	broad.mit.edu	37	16	57765098	57765098	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:57765098G>T	uc002emi.2	+	18	2642	c.2553G>T	c.(2551-2553)CTG>CTT	p.L851L	CCDC135_uc002emj.2_Silent_p.L851L|CCDC135_uc002emk.2_Silent_p.L786L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	851						cytoplasm				central_nervous_system(1)	1						TGGCCCCACTGAAGTACCTGG	0.572			NA											24	46					1.38267e-23	1.69894e-23	0.027356	1	0
CDH8	1006	broad.mit.edu	37	16	61859003	61859003	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:61859003C>A	uc002eog.1	-	5	1000	c.748G>T	c.(748-750)GGT>TGT	p.G250C	CDH8_uc002eoh.2_Missense_Mutation_p.G19C	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	250	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTGTCCACCCATATCTTTG	0.448			NA											43	60					3.05275e-18	3.67558e-18	0.013114	1	0
SMPD3	55512	broad.mit.edu	37	16	68405584	68405584	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:68405584G>T	uc002ewa.2	-	3	923	c.501C>A	c.(499-501)ATC>ATA	p.I167I	SMPD3_uc010cfe.2_Silent_p.I167I|SMPD3_uc010vlh.1_Silent_p.I167I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	167	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGTAAATTTTGATCTGGGGCC	0.632			NA											4	51					0.00024832	0.000266785	0.009096	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77465343	77465343	+	Missense_Mutation	SNP	G	G	A	rs145596475		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:77465343G>A	uc002ffc.3	-	3	763	c.344C>T	c.(343-345)TCG>TTG	p.S115L	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	115					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CAAAATCGCCGAGGGCTTAAG	0.488			NA											42	136					0	0	0.025465	0	0
BCMO1	53630	broad.mit.edu	37	16	81324006	81324006	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:81324006C>T	uc002fgn.1	+	11	1686	c.1468C>T	c.(1468-1470)CTC>TTC	p.L490F	BCMO1_uc010vnp.1_Missense_Mutation_p.L421F	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	490					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						GCCTTTTCTGCTCATTCTGGA	0.433			NA											37	73					0	0	0.007835	0	0
SLC7A5	8140	broad.mit.edu	37	16	87866630	87866630	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:87866630G>C	uc002fkm.2	-	10	1542	c.1470C>G	c.(1468-1470)TTC>TTG	p.F490L		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	490					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		CGGTCGTGGAGACTGTCAGGA	0.657			NA											30	125					0	0	0.007291	0	0
DPEP1	1800	broad.mit.edu	37	16	89703660	89703660	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:89703660C>T	uc010cin.2	+	7	843	c.640C>T	c.(640-642)CAC>TAC	p.H214Y	DPEP1_uc002fnr.3_Missense_Mutation_p.H214Y|DPEP1_uc002fns.3_Missense_Mutation_p.H214Y	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	214		Zinc 2; catalytic.			proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CGACTTGGCTCACGTGTCTGT	0.662			NA											8	41					0	0	0.00308	0	0
RILP	83547	broad.mit.edu	37	17	1552103	1552103	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:1552103G>C	uc002ftd.2	-	4	959	c.665C>G	c.(664-666)CCT>CGT	p.P222R		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	222					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)		CGGGTCCTCAGGGTTCCCTGG	0.577			NA											3	9					0	0	0.004672	0	0
DPH1	1801	broad.mit.edu	37	17	1936833	1936833	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:1936833C>T	uc002fts.2	+	2	129	c.111C>T	c.(109-111)ATC>ATT	p.I37I	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.I32I|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Silent_p.I47I	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	37					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						CCAATCAGATCCCCCCTGAGA	0.527			NA											24	68					0	0	0.024334	0	0
GLP2R	9340	broad.mit.edu	37	17	9792772	9792772	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:9792772T>G	uc002gmd.1	+	13	1412	c.1412T>G	c.(1411-1413)TTC>TGC	p.F471C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	471	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGGAAGGACTTCCGGTTCCTA	0.587			NA											24	43					0	0	0.024334	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008931	27008931	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:27008931G>A	uc002hby.2	+	13	1620	c.1530G>A	c.(1528-1530)CAG>CAA	p.Q510Q	SUPT6H_uc010crt.2_Silent_p.Q510Q	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	510					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ATGAGGAGCAGAGGGGGCCTG	0.517			NA											5	32					0	0	0.014758	0	0
STAT3	6774	broad.mit.edu	37	17	40498730	40498730	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:40498730C>T	uc002hzl.1	-	3	370	c.130G>A	c.(130-132)GCA>ACA	p.A44T	STAT3_uc002hzk.1_Missense_Mutation_p.A44T|STAT3_uc002hzm.1_Missense_Mutation_p.A44T|STAT3_uc010wgh.1_5'UTR|STAT3_uc002hzn.1_Missense_Mutation_p.A44T	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	44					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCGCATATGCCCTAGGAAAA	0.428			NA							Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				4	267					0	0	0.009096	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398804	42398804	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:42398804C>A	uc002ign.2	-	7	669	c.515G>T	c.(514-516)CGC>CTC	p.R172L	SLC25A39_uc002igm.2_Missense_Mutation_p.R164L|SLC25A39_uc002igo.2_Missense_Mutation_p.R164L|SLC25A39_uc010wiw.1_Missense_Mutation_p.R149L|SLC25A39_uc010czu.2_Missense_Mutation_p.R40L|SLC25A39_uc010wix.1_Missense_Mutation_p.R164L|SLC25A39_uc010wiy.1_Missense_Mutation_p.R157L	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	172	Solcar 2.|Helical; Name=3; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGCTCACGGCGGGCCAGCGC	0.632			NA											21	48					1.28384e-07	1.4156e-07	0.012319	1	0
KIAA1267	284058	broad.mit.edu	37	17	44117133	44117133	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:44117133C>T	uc002ikb.2	-	7	2223	c.2138G>A	c.(2137-2139)GGC>GAC	p.G713D	KIAA1267_uc002ikc.2_Missense_Mutation_p.G713D|KIAA1267_uc002ikd.2_Missense_Mutation_p.G713D|KIAA1267_uc010dav.2_Missense_Mutation_p.G713D|KIAA1267_uc010wkb.1_Missense_Mutation_p.G44D|KIAA1267_uc010wkc.1_Missense_Mutation_p.G44D	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	713						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				TGGCAGACTGCCCGGCATGGG	0.502			NA											5	124					0	0	0.014758	0	0
HOXB3	3213	broad.mit.edu	37	17	46629586	46629586	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:46629586G>A	uc002inn.2	-	1	651	c.251C>T	c.(250-252)TCG>TTG	p.S84L	HOXB3_uc010wlm.1_Missense_Mutation_p.S11L|HOXB3_uc010dbf.2_Missense_Mutation_p.S84L|HOXB3_uc010dbg.2_Missense_Mutation_p.S84L|HOXB3_uc002ino.2_Missense_Mutation_p.S84L|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Missense_Mutation_p.S11L	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	84					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGCGGGGCCGACAGGGGCTC	0.682			NA											36	70					0	0	0.015359	0	0
NME1-NME2	654364	broad.mit.edu	37	17	49245626	49245626	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:49245626G>A	uc002itk.2	+	7	823	c.570G>A	c.(568-570)CAG>CAA	p.Q190Q	NME1-NME2_uc002itj.2_Silent_p.Q165Q|NME2_uc002itl.2_Silent_p.Q50Q|NME2_uc002itm.2_Silent_p.Q50Q|NME2_uc002itn.2_Silent_p.Q50Q|NME2_uc002ito.2_Silent_p.Q50Q	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	50	Interaction with AKAP13.				cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ACCTGAAGCAGCACTACATTG	0.542			NA											6	110					0	0	0.001984	0	0
KIF2B	84643	broad.mit.edu	37	17	51901606	51901606	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:51901606G>T	uc002iua.2	+	1	1368	c.1212G>T	c.(1210-1212)GTG>GTT	p.V404V	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	404	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TGAACCTGGTGGAAATAGGGA	0.522			NA											26	60					4.59853e-10	5.17953e-10	0.027356	1	0
ARMC7	79637	broad.mit.edu	37	17	73125037	73125037	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:73125037C>T	uc002jmw.1	+	3	803	c.501C>T	c.(499-501)TTC>TTT	p.F167F	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	167							binding			pancreas(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TGGAGGACTTCTGCTCCCCCC	0.701			NA											5	14					0	0	0.014758	0	0
RNF213	57674	broad.mit.edu	37	17	78321478	78321478	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:78321478G>A	uc002jyh.1	+	4	3785	c.3562G>A	c.(3562-3564)GCA>ACA	p.A1188T		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTCTACGACGCACTCAACCA	0.562			NA											22	65					0	0	0.012319	0	0
FAM38B	63895	broad.mit.edu	37	18	10691237	10691237	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:10691237G>C	uc002kor.3	-	6	1007	c.867C>G	c.(865-867)CTC>CTG	p.L289L	FAM38B_uc002koq.2_Silent_p.L187L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2332	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						GGAATAAGAAGAGGTTGACGT	0.498			NA											43	75					0	0	0.01441	0	0
CEP76	79959	broad.mit.edu	37	18	12695285	12695285	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:12695285G>C	uc002kri.2	-	6	928	c.772C>G	c.(772-774)CAA>GAA	p.Q258E	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.Q80E|CEP76_uc010wzz.1_Missense_Mutation_p.Q183E|CEP76_uc010xaa.1_Missense_Mutation_p.Q80E	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	258					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						GATAACGTTTGATTGAGTGGT	0.299			NA											4	18					0	0	0.009096	0	0
LAMA3	3909	broad.mit.edu	37	18	21526203	21526203	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:21526203C>T	uc002kuq.2	+	70	9392	c.9306C>T	c.(9304-9306)ATC>ATT	p.I3102I	LAMA3_uc002kur.2_Silent_p.I3046I|LAMA3_uc002kus.3_Silent_p.I1493I|LAMA3_uc002kut.3_Silent_p.I1437I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3102	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCAGCATCAGAGCGCCAG	0.502			NA											11	73					0	0	0.010729	0	0
ZNF521	25925	broad.mit.edu	37	18	22806029	22806029	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:22806029T>G	uc002kvk.2	-	4	2100	c.1853A>C	c.(1852-1854)AAG>ACG	p.K618T	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K618T|ZNF521_uc002kvl.2_Missense_Mutation_p.K398T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	618					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGCATCATCTTAAGAGATGT	0.468			NA	T	PAX5	ALL								12	55					0	0	0.013537	0	0
DSC2	1824	broad.mit.edu	37	18	28660165	28660165	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:28660165G>T	uc002kwl.3	-	10	1871	c.1417C>A	c.(1417-1419)CCT>ACT	p.P473T	DSC2_uc002kwk.3_Missense_Mutation_p.P473T	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	473	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTATTGGAGGGTTACACTCA	0.443			NA											24	126					7.76418e-22	9.48453e-22	0.027356	1	0
ASXL3	80816	broad.mit.edu	37	18	31323324	31323324	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:31323324A>T	uc010dmg.1	+	12	3567	c.3512A>T	c.(3511-3513)AAG>ATG	p.K1171M	ASXL3_uc002kxq.2_Missense_Mutation_p.K878M	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CCTAGCAACAAGTCTGCCCAC	0.458			NA											5	36					0	0	0.014758	0	0
RIT2	6014	broad.mit.edu	37	18	40323480	40323480	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:40323480T>G	uc002lav.2	-	5	805	c.632A>C	c.(631-633)AAG>ACG	p.K211T	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	211					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						TTCTCTCTTCTTCTTCAAAGA	0.388			NA											15	108					0	0	0.024245	0	0
ZNF532	55205	broad.mit.edu	37	18	56648817	56648817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:56648817G>T	uc002lho.2	+	10	3926	c.3379G>T	c.(3379-3381)GAG>TAG	p.E1127*	ZNF532_uc002lhp.2_Nonsense_Mutation_p.E1125*|ZNF532_uc010xeg.1_Nonsense_Mutation_p.E1125*|ZNF532_uc002lhr.2_Nonsense_Mutation_p.E1125*|ZNF532_uc002lhs.2_Nonsense_Mutation_p.E1125*|ZNF532_uc010xeh.1_Nonsense_Mutation_p.E215*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TGCCACCAATGAGGAGGAAAC	0.418			NA											32	45					8.16721e-17	9.66684e-17	0.010818	1	0
CDH19	28513	broad.mit.edu	37	18	64218487	64218487	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:64218487T>C	uc002lkc.1	-	5	757	c.619A>G	c.(619-621)AGA>GGA	p.R207G	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.R207G|CDH19_uc002lkd.2_Missense_Mutation_p.R207G	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	207	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GAAGATATTCTTATGACTCCT	0.313			NA											22	77					0	0	0.010504	0	0
SAFB	6294	broad.mit.edu	37	19	5651059	5651059	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:5651059G>C	uc002mcf.2	+	9	1322	c.1269G>C	c.(1267-1269)AAG>AAC	p.K423N	SAFB_uc002mcg.2_Missense_Mutation_p.K423N|SAFB_uc002mce.3_Missense_Mutation_p.K423N|SAFB_uc010xir.1_Missense_Mutation_p.K423N|SAFB_uc010xis.1_Missense_Mutation_p.K354N|SAFB_uc010xit.1_Missense_Mutation_p.K266N|SAFB_uc010xiu.1_Missense_Mutation_p.K222N	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	423	RRM.				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)		CAGATTTGAAGAATCTTTTCA	0.423	Colon(88;338 1345 6184 8214 20897)		NA											14	40					0	0	0.016723	0	0
DNMT1	1786	broad.mit.edu	37	19	10287991	10287991	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:10287991G>A	uc002mng.2	-	5	678	c.498C>T	c.(496-498)ACC>ACT	p.T166T	DNMT1_uc010xlc.1_Silent_p.T182T|DNMT1_uc002mnh.2_Silent_p.T61T|DNMT1_uc010xld.1_Silent_p.T166T|DNMT1_uc010dxb.1_RNA	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	166	Interaction with PCNA.|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).			T->A: Abolishes interaction with PCNA.	chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGATGTGATGGTGGTTTGCC	0.443			NA											5	30					0	0	0.014758	0	0
KEAP1	9817	broad.mit.edu	37	19	10602775	10602775	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:10602775A>G	uc002moq.1	-	3	959	c.803T>C	c.(802-804)CTG>CCG	p.L268P	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.L268P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	268	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACGGCCCGCAGCAGCGCCTG	0.627			NA											9	33					0	0	0.008291	0	0
SMARCA4	6597	broad.mit.edu	37	19	11168983	11168983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:11168983G>T	uc002mqf.3	+	31	4761	c.4477G>T	c.(4477-4479)GAG>TAG	p.E1493*	SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1493*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1525*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1460*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1459*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1463*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1462*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E583*	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1493	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCGCGAAAGGAGCTGCCCGA	0.637			NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				13	15					0.000219431	0.000236963	0.020292	1	0
ZNF98	148198	broad.mit.edu	37	19	22574557	22574557	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:22574557C>G	uc002nqt.2	-	4	1602	c.1480G>C	c.(1480-1482)GAA>CAA	p.E494Q		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	494	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCACATTCTTCACATTTG	0.403			NA											4	74					0	0	0.009096	0	0
PSG7	5676	broad.mit.edu	37	19	43430044	43430044	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:43430044G>C	uc002ovl.3	-	6	1226	c.1124C>G	c.(1123-1125)TCA>TGA	p.S375*	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Nonsense_Mutation_p.S288*|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Nonsense_Mutation_p.S101*|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Nonsense_Mutation_p.S288*|PSG7_uc010xwl.1_Nonsense_Mutation_p.S253*	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	375	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.463			NA											102	252					0	0	0.01441	0	0
IRGC	56269	broad.mit.edu	37	19	44223520	44223520	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:44223520C>T	uc002oxh.2	+	2	957	c.810C>T	c.(808-810)ACC>ACT	p.T270T		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	270						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				TCCTCAAGACCGCCCTGGTGT	0.657	Colon(189;350 2037 11447 13433 38914)		NA											6	49					0	0	0.00308	0	0
ZNF283	284349	broad.mit.edu	37	19	44351997	44351997	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:44351997G>T	uc002oxr.3	+	7	1512	c.1244G>T	c.(1243-1245)GGA>GTA	p.G415V	ZNF283_uc002oxp.3_Missense_Mutation_p.G276V	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	415	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TTTAATTGCGGATCAAGTCTT	0.388			NA											45	104					1.7489e-18	2.11179e-18	0.011902	1	0
SFRS16	11129	broad.mit.edu	37	19	45567459	45567459	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:45567459C>T	uc002pak.2	+	12	1193	c.1095C>T	c.(1093-1095)CCC>CCT	p.P365P	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.P303P|SFRS16_uc002pam.2_Silent_p.P365P|SFRS16_uc002pan.1_RNA	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	365					mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGGCGGCCCCGCCCCGGGAC	0.756			NA											7	7					0	0	0.001984	0	0
SYMPK	8189	broad.mit.edu	37	19	46319126	46319126	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46319126C>G	uc002pdn.2	-	26	3915	c.3670G>C	c.(3670-3672)GAG>CAG	p.E1224Q	RSPH6A_uc002pdm.2_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	1224					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGGGGCCCTCGAGACTAGAG	0.672			NA											4	16					0	0	0.009096	0	0
IGFL2	147920	broad.mit.edu	37	19	46663876	46663876	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46663876G>T	uc010xxv.1	+	3	115	c.79G>T	c.(79-81)GCT>TCT	p.A27S	IGFL2_uc002peb.2_Missense_Mutation_p.A38S	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	27						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCCAGCTCCCGCTGGCTCAGA	0.572			NA											74	85					1.62783e-20	1.98273e-20	0.01441	1	0
PNMAL1	55228	broad.mit.edu	37	19	46973432	46973432	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46973432C>T	uc002peq.3	-	2	1167	c.861G>A	c.(859-861)CCG>CCA	p.P287P	PNMAL1_uc002per.3_Silent_p.P287P	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	287											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGCCCTTGATCGGCTCTGAGA	0.537			NA											76	68					0	0	0.01441	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974056	46974056	+	Silent	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46974056C>G	uc002peq.3	-	2	543	c.237G>C	c.(235-237)CTG>CTC	p.L79L	PNMAL1_uc002per.3_Silent_p.L79L	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	79											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ggatggtgctcagattcacac	0			NA											8	20					0	0	0.00308	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48255844	48255844	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:48255844C>G	uc002phm.2	+	6	769	c.745C>G	c.(745-747)CCA>GCA	p.P249A	GLTSCR2_uc002phk.2_Missense_Mutation_p.P249A|GLTSCR2_uc002phl.2_Missense_Mutation_p.P249A|GLTSCR2_uc010elj.2_Missense_Mutation_p.P249A|GLTSCR2_uc010elk.1_RNA	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	249						nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTACAATCCATCCTTTGA	0.632	Colon(58;613 1041 9473 10089 15241)		NA											6	22					0	0	0.001984	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655729	40655729	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:40655729A>G	uc002rrx.2	-	1	1716	c.1692T>C	c.(1690-1692)TCT>TCC	p.S564S	SLC8A1_uc002rry.2_Silent_p.S564S|SLC8A1_uc002rrz.2_Silent_p.S564S|SLC8A1_uc002rsa.2_Silent_p.S564S|SLC8A1_uc002rsd.3_Silent_p.S564S|SLC8A1_uc002rsb.1_Silent_p.S564S|SLC8A1_uc010fan.1_Silent_p.S564S|SLC8A1_uc002rsc.1_Silent_p.S564S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	564	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCGAGCTCCAGATGTTCTCA	0.458			NA											11	201					0	0	0.010729	0	0
THADA	63892	broad.mit.edu	37	2	43519314	43519314	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:43519314C>G	uc002rsw.3	-	33	5218	c.4866G>C	c.(4864-4866)CAG>CAC	p.Q1622H	THADA_uc010far.2_Missense_Mutation_p.Q817H|THADA_uc002rsx.3_Missense_Mutation_p.Q1622H|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1622							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGTGCTCCGTCTGGGGAAGCC	0.478			NA											7	23					0	0	0.004482	0	0
ADD2	119	broad.mit.edu	37	2	70933523	70933523	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:70933523G>T	uc002sgz.2	-	3	483	c.18C>A	c.(16-18)GTC>GTA	p.V6V	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.V6V|ADD2_uc002sha.2_Silent_p.V6V|ADD2_uc002sgx.2_Silent_p.V6V|ADD2_uc010fdt.1_Silent_p.V6V|ADD2_uc002shc.1_Silent_p.V6V|ADD2_uc002shd.1_Silent_p.V6V|ADD2_uc010fdu.1_Silent_p.V22V	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	6					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CAGCCTCGGGGACCGTCTCTT	0.647			NA											27	70					9.39395e-14	1.0964e-13	0.00632	1	0
SNRNP200	23020	broad.mit.edu	37	2	96944390	96944390	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:96944390C>A	uc002svu.2	-	38	5469	c.5383G>T	c.(5383-5385)GAC>TAC	p.D1795Y	SNRNP200_uc002svt.2_Missense_Mutation_p.D405Y|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1795						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TGCTCCAGGTCACTCAGGGTC	0.567			NA											25	55					1.64293e-13	1.9069e-13	0.01892	1	0
POTEF	728378	broad.mit.edu	37	2	130877669	130877669	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:130877669C>T	uc010fmh.2	-	3	820	c.420G>A	c.(418-420)CTG>CTA	p.L140L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	140						cell cortex	ATP binding			skin(3)|ovary(2)	5						GGAGCTTGTCCAGATCTTCTC	0.572			NA											31	101					0	0	0.027894	0	0
POTEE	445582	broad.mit.edu	37	2	131976395	131976395	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:131976395G>A	uc002tsn.2	+	1	472	c.420G>A	c.(418-420)CTG>CTA	p.L140L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	140							ATP binding				0						GAGAAGATCTGGACAAGCTCC	0.577			NA											6	139					0	0	0.016723	0	0
LRP1B	53353	broad.mit.edu	37	2	141081555	141081555	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:141081555G>C	uc002tvj.1	-	81	13393	c.12421C>G	c.(12421-12423)CAA>GAA	p.Q4141E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4141	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAATTTTTGAACTCGAAAT	0.308	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			31	137					0	0	0.009535	0	0
LY75	4065	broad.mit.edu	37	2	160661621	160661621	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:160661621G>A	uc002ubc.3	-	35	5172	c.5103C>T	c.(5101-5103)TTC>TTT	p.F1701F	LY75_uc002ubb.3_Intron|LY75_uc010fos.2_Intron	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1701	Cytoplasmic (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		GAACTGATGAGAAACCCGCCA	0.408			NA											19	50					0	0	0.008871	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884750	160884750	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:160884750G>A	uc002ube.1	-	6	1285	c.1078C>T	c.(1078-1080)CAC>TAC	p.H360Y	PLA2R1_uc010zcp.1_Missense_Mutation_p.H360Y|PLA2R1_uc002ubf.2_Missense_Mutation_p.H360Y	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	360	Extracellular (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TGATCAATGTGGTTTAGATAT	0.343			NA											8	105					0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	165947525	165947525	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:165947525C>A	uc002ucx.2	-	28	5630	c.5138G>T	c.(5137-5139)GGA>GTA	p.G1713V	SCN3A_uc010zcy.1_Missense_Mutation_p.G196V|SCN3A_uc002ucy.2_Missense_Mutation_p.G1664V|SCN3A_uc002ucz.2_Missense_Mutation_p.G1664V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1713						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TGCTAGCAATCCATCCCAGCC	0.468			NA											75	169					1.51875e-23	1.8607e-23	0.01441	1	0
XIRP2	129446	broad.mit.edu	37	2	168096470	168096470	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:168096470G>A	uc002udx.2	+	5	982	c.964G>A	c.(964-966)GAA>AAA	p.E322K	XIRP2_uc010fpn.2_Missense_Mutation_p.E355K|XIRP2_uc010fpo.2_Missense_Mutation_p.E322K|XIRP2_uc010fpp.2_Missense_Mutation_p.E322K|XIRP2_uc002udy.2_Missense_Mutation_p.E147K|XIRP2_uc010fpq.2_Missense_Mutation_p.E100K|XIRP2_uc010fpr.2_Missense_Mutation_p.E100K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	147					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCATGGAACAGAAATGGTAAC	0.378			NA											7	62					0	0	0.001984	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794750	176794750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:176794750C>A	uc002ukc.1	-	13	1425	c.1232G>T	c.(1231-1233)GGA>GTA	p.G411V	KIAA1715_uc010zer.1_Missense_Mutation_p.G442V|KIAA1715_uc010fqw.1_Missense_Mutation_p.G477V|KIAA1715_uc010zes.1_Missense_Mutation_p.G413V|KIAA1715_uc002ukd.1_Missense_Mutation_p.G288V|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	411	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGAATCAGCTCCAGGAACTGT	0.433			NA											43	76					1.76056e-25	2.17603e-25	0.011902	1	0
HOXD3	3232	broad.mit.edu	37	2	177034065	177034065	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:177034065C>A	uc002ukt.1	+	2	399	c.223C>A	c.(223-225)CCT>ACT	p.P75T		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	75					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GAGCTCTGCCCCTCTGAGAGC	0.667			NA											25	58					5.35356e-11	6.14559e-11	0.016522	1	0
RBM45	129831	broad.mit.edu	37	2	178981066	178981066	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:178981066G>A	uc002ulv.2	+	2	470	c.378G>A	c.(376-378)ATG>ATA	p.M126I		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	126	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCTTTGTTATGATACCAAAGT	0.373			NA											29	159					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179438325	179438325	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179438325T>G	uc010zfg.1	-	275	65054	c.64830A>C	c.(64828-64830)CAA>CAC	p.Q21610H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q15305H|TTN_uc010zfi.1_Missense_Mutation_p.Q15238H|TTN_uc010zfj.1_Missense_Mutation_p.Q15113H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22537							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q15113H(1)		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)			GCTTTGTTACTTGGACTTCTG	0.423			NA											9	515					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179579143	179579143	+	Silent	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179579143A>C	uc010zfg.1	-	88	22850	c.22626T>G	c.(22624-22626)TCT>TCG	p.S7542S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4203S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8469							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)			TTTCTGAATAAGAAATCCATA	0.413			NA											9	83					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179579856C>T	uc010zfg.1	-	87	22549	c.22325G>A	c.(22324-22326)GGC>GAC	p.G7442D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8369							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)			GTACTTCTTGCCGCTCCTAAG	0.443			NA											5	362					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179604934	179604934	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179604934T>C	uc010zfh.1	-	46	12737	c.12513A>G	c.(12511-12513)AAA>AAG	p.K4171K	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.K4104K|TTN_uc010zfj.1_Silent_p.K3979K|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGCTCTTCTTTGAGCAGTA	0.473			NA											4	156					0	0	0.009096	0	0
DUSP19	142679	broad.mit.edu	37	2	183943759	183943759	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:183943759A>G	uc002upd.2	+	1	473	c.98A>G	c.(97-99)GAA>GGA	p.E33G	DUSP19_uc010frp.2_Missense_Mutation_p.E33G|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Missense_Mutation_p.E33G	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19 isoform 1	33					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			ovary(4)|pancreas(1)	5						AAAATTATAGAAACATGGAAA	0.453			NA											18	35					0	0	0.010504	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:185802437C>T	uc002uph.2	+	4	2908	c.2314C>T	c.(2314-2316)CGT>TGT	p.R772C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CTATCGAAAACGTAGACAACA	0.343			NA											29	75					0	0	0.009535	0	0
FZD7	8324	broad.mit.edu	37	2	202899457	202899457	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:202899457C>T	uc002uyw.1	+	1	148	c.87C>T	c.(85-87)GGC>GGT	p.G29G		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	29					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TGTCCGCGGGCGCCGGGGCGC	0.731			NA											28	36					0	0	0.024334	0	0
PARD3B	117583	broad.mit.edu	37	2	205969185	205969185	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:205969185G>C	uc002var.1	+	5	747	c.540G>C	c.(538-540)TTG>TTC	p.L180F	PARD3B_uc010fub.1_Missense_Mutation_p.L180F|PARD3B_uc002vao.1_Missense_Mutation_p.L180F|PARD3B_uc002vap.1_Missense_Mutation_p.L180F|PARD3B_uc002vaq.1_Missense_Mutation_p.L180F	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	180					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGAAGTTTTGAATGGTGTAC	0.333			NA											33	113					0	0	0.023175	0	0
PARD3B	117583	broad.mit.edu	37	2	206036935	206036935	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:206036935G>A	uc002var.1	+	12	1828	c.1621G>A	c.(1621-1623)GAT>AAT	p.D541N	PARD3B_uc010fub.1_Missense_Mutation_p.D541N|PARD3B_uc002vao.1_Missense_Mutation_p.D541N|PARD3B_uc002vap.1_Missense_Mutation_p.D479N|PARD3B_uc002vaq.1_Missense_Mutation_p.D541N	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	541	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGCCTTAGGATGGTCGTCT	0.398			NA											13	75					0	0	0.020292	0	0
PTH2R	5746	broad.mit.edu	37	2	209355384	209355384	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:209355384C>T	uc002vdb.2	+	12	1449	c.1236C>T	c.(1234-1236)ATC>ATT	p.I412I	PTH2R_uc010zjb.1_Silent_p.I423I|PTH2R_uc010fuo.1_RNA	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	412	Helical; Name=7; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTCTATCATCTACTGCTACT	0.443			NA											66	111					0	0	0.01441	0	0
BARD1	580	broad.mit.edu	37	2	215646023	215646023	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:215646023G>A	uc002veu.2	-	4	710	c.575C>T	c.(574-576)TCT>TTT	p.S192F	BARD1_uc010zjm.1_Missense_Mutation_p.S48F	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	192					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCCTCTCAGAAACATCTGC	0.383			NA							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				42	112					0	0	0.011902	0	0
MARCH4	57574	broad.mit.edu	37	2	217234653	217234653	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:217234653G>A	uc002vgb.2	-	1	2098	c.331C>T	c.(331-333)CCA>TCA	p.P111S		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	111	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAAGGTGGCAAGGGGGGT	0.672			NA											7	15					0	0	0.00308	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115640	220115640	+	Missense_Mutation	SNP	G	G	A	rs147946711		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:220115640G>A	uc002vkt.1	-	4	839	c.781C>T	c.(781-783)CCC>TCC	p.P261S	TUBA4A_uc010zkz.1_Missense_Mutation_p.P246S|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	261					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGGTAGGGCACCAGGTTG	0.562			NA											42	64					0	0	0.011902	0	0
MAVS	57506	broad.mit.edu	37	20	3838387	3838387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:3838387G>A	uc002wjw.3	+	3	392	c.223G>A	c.(223-225)GCA>ACA	p.A75T	MAVS_uc002wjv.2_Missense_Mutation_p.A75T|MAVS_uc010zqn.1_Missense_Mutation_p.A75T|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	75	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CTTCATTGCGGCACTGAGGGG	0.632			NA											4	145					0	0	0.009096	0	0
CHD6	84181	broad.mit.edu	37	20	40040832	40040832	+	Silent	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:40040832C>G	uc002xka.1	-	36	7381	c.7203G>C	c.(7201-7203)CTG>CTC	p.L2401L	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2401					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTCCCCGCTCAGGGAGCTGA	0.517			NA											21	78					0	0	0.012319	0	0
STX16	8675	broad.mit.edu	37	20	57243142	57243142	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:57243142G>A	uc002xzi.2	+	4	1087	c.352G>A	c.(352-354)GAG>AAG	p.E118K	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Missense_Mutation_p.E101K|STX16_uc002xzm.2_Missense_Mutation_p.E114K|STX16_uc002xzj.2_Missense_Mutation_p.E97K|STX16_uc002xzl.2_5'UTR	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	118	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CAGCAGCGAAGAGGAACATGC	0.483			NA											4	63					0	0	0.021553	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030051	34030051	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:34030051C>A	uc002yqh.2	-	19	2553	c.2553G>T	c.(2551-2553)AGG>AGT	p.R851S	SYNJ1_uc011ads.1_Missense_Mutation_p.R807S|SYNJ1_uc002yqf.2_Missense_Mutation_p.R812S|SYNJ1_uc002yqg.2_Missense_Mutation_p.R807S|SYNJ1_uc002yqi.2_Missense_Mutation_p.R851S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	812	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GCCATTTCCTCCTTCTCCAAA	0.423			NA											32	55					2.42023e-17	2.8809e-17	0.015359	1	0
MX2	4600	broad.mit.edu	37	21	42748999	42748999	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:42748999G>T	uc002yzf.1	+	2	270	c.166G>T	c.(166-168)GCT>TCT	p.A56S	MX2_uc011aer.1_RNA	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	56					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGAGAAGGACGCTGCTTTCCT	0.527			NA											43	96					3.61848e-18	4.34425e-18	0.007835	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011473	46011473	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:46011473C>A	uc002zfm.2	-	1	914	c.893G>T	c.(892-894)TGC>TTC	p.C298F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	298	29 X 5 AA repeats of C-C-X(3).|27.					keratin filament					0						GGAGGGTCTGCAGCAGGAGGC	0.677			NA											54	75					6.3237e-29	7.93302e-29	0.01441	1	0
MCM3AP	8888	broad.mit.edu	37	21	47663461	47663461	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:47663461C>T	uc002zir.1	-	24	5250	c.5214G>A	c.(5212-5214)GAG>GAA	p.E1738E	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.E233E|MCM3AP_uc002zip.1_Silent_p.E479E|MCM3AP_uc002ziq.1_Silent_p.E665E|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1738					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCCATGGGATCTCCATGACCG	0.562			NA											7	108					0	0	0.00308	0	0
THAP7	80764	broad.mit.edu	37	22	21354220	21354220	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:21354220C>T	uc002ztr.1	-	5	909	c.879G>A	c.(877-879)CTG>CTA	p.L293L	THAP7_uc002zts.1_Silent_p.L293L|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	293					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGCTCCTTCAGAGTCTGGC	0.657			NA											7	49					0	0	0.001984	0	0
HIC2	23119	broad.mit.edu	37	22	21800810	21800810	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:21800810C>T	uc002zur.3	+	3	1856	c.1626C>T	c.(1624-1626)TTC>TTT	p.F542F	HIC2_uc002zus.3_Silent_p.F542F	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	542	C2H2-type 3.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCAAAATGTTCACGCAGCGCG	0.632	NSCLC(23;437 858 2282 27947 40366)		NA											16	35					0	0	0.028581	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996548	39996548	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:39996548C>T	uc003ayc.2	+	3	372	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CACNA1I_uc003ayd.2_Silent_p.I124I|CACNA1I_uc003aye.2_Silent_p.I39I|CACNA1I_uc003ayf.2_Silent_p.I39I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	124	I.|Helical; Name=S2 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCTTTATCTTCTTTGCCA	0.557			NA											7	51					0	0	0.004482	0	0
ZBED4	9889	broad.mit.edu	37	22	50277565	50277565	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:50277565G>A	uc003bix.2	+	2	725	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	85						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACTATGGCGCGCTGTTCTCCC	0.627			NA											21	112					0	0	0.012319	0	0
LRRN1	57633	broad.mit.edu	37	3	3888070	3888070	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:3888070A>C	uc003bpt.3	+	2	2506	c.1745A>C	c.(1744-1746)AAC>ACC	p.N582T	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	582	Fibronectin type-III.|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)		CATGAATACAACCTAACGCAT	0.433			NA											34	271					0	0	0.013726	0	0
PPARG	5468	broad.mit.edu	37	3	12393098	12393098	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:12393098G>A	uc003bwx.2	+	1	98	c.7G>A	c.(7-9)GAA>AAA	p.E3K	PPARG_uc003bwr.2_Intron|PPARG_uc003bws.2_Intron|PPARG_uc003bwu.2_Intron|PPARG_uc003bwv.2_Intron|PPARG_uc003bwq.1_Intron|PPARG_uc010hdz.1_Intron|PPARG_uc003bwt.1_Intron|PPARG_uc003bww.1_Missense_Mutation_p.E3K	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	3					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGTTATGGGTGAAACTCTGGG	0.393			NA	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						24	39					0	0	0.014323	0	0
NEK10	152110	broad.mit.edu	37	3	27152782	27152782	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:27152782T>C	uc010hfk.2	-	17	1665	c.1436A>G	c.(1435-1437)AAT>AGT	p.N479S	NEK10_uc010hfj.2_Missense_Mutation_p.N422S			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1167							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GGTTGGGTGATTCTTGGTCCC	0.368			NA											5	54					0	0	0.014758	0	0
NEK10	152110	broad.mit.edu	37	3	27204078	27204078	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:27204078C>T	uc010hfk.2	-	10	1049	c.820G>A	c.(820-822)GAC>AAC	p.D274N	NEK10_uc003cds.1_Missense_Mutation_p.D359N|NEK10_uc010hfj.2_Intron			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	962							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						AGAAGCAGGTCAAGAGGCAGC	0.433			NA											6	56					0	0	0.021553	0	0
XYLB	9942	broad.mit.edu	37	3	38401862	38401862	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:38401862G>C	uc003cic.2	+	3	282	c.173G>C	c.(172-174)GGG>GCG	p.G58A	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	58					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CACAAGGATGGGCTGACGGTC	0.532			NA											36	90					0	0	0.00874	0	0
ZNF35	7584	broad.mit.edu	37	3	44701145	44701145	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:44701145C>T	uc003cnq.2	+	4	1511	c.1290C>T	c.(1288-1290)CTC>CTT	p.L430L	ZNF35_uc003cnr.2_Silent_p.L270L	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	430	C2H2-type 8.			Missing (in Ref. 1; CAA30268).	cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TCAGTCAGCTCTCTTGCCTTA	0.443			NA											19	74					0	0	0.008871	0	0
CELSR3	1951	broad.mit.edu	37	3	48686568	48686568	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48686568C>T	uc003cul.2	-	17	6834	c.6553G>A	c.(6553-6555)GAG>AAG	p.E2185K	CELSR3_uc003cuf.1_Missense_Mutation_p.E2255K|CELSR3_uc010hkg.2_Missense_Mutation_p.E168K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2185	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGACTGAGCTCTCGAAAGGCA	0.607			NA											7	14					0	0	0.004482	0	0
CELSR3	1951	broad.mit.edu	37	3	48696534	48696534	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48696534G>C	uc003cul.2	-	1	3815	c.3534C>G	c.(3532-3534)AAC>AAG	p.N1178K	CELSR3_uc003cuf.1_Missense_Mutation_p.N1248K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1178	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATACATAGTTGTTGAAGA	0.547			NA											4	69					0	0	0.009096	0	0
IP6K2	51447	broad.mit.edu	37	3	48725789	48725789	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48725789C>T	uc003cup.2	-	6	1442	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.E400K	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	400					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						TCCTGGCCCTCATGCACCACG	0.557			NA											26	40					0	0	0.009535	0	0
ACOX2	8309	broad.mit.edu	37	3	58508312	58508312	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:58508312C>A	uc003dkl.2	-	12	1718	c.1543G>T	c.(1543-1545)GTG>TTG	p.V515L		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	515					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AAATGCTGCACTGAGTCCTTT	0.527			NA											15	62					3.27435e-08	3.62951e-08	0.020292	1	0
FHIT	2272	broad.mit.edu	37	3	59737985	59737985	+	Silent	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:59737985T>A	uc003dkx.3	-	9	782	c.411A>T	c.(409-411)GCA>GCT	p.A137A	FHIT_uc003dky.2_Silent_p.A137A|FHIT_uc010hnn.1_Silent_p.A137A	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	137					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CTGCGGCTTCTGCTGCCATTT	0.517			NA	T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				6	77					0	0	0.004482	0	0
MITF	4286	broad.mit.edu	37	3	69987181	69987181	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:69987181A>C	uc003dnz.2	+	3	679	c.563A>C	c.(562-564)AAC>ACC	p.N188T	MITF_uc011bgb.1_Missense_Mutation_p.N136T|MITF_uc003doa.2_Missense_Mutation_p.N187T|MITF_uc003dob.2_Missense_Mutation_p.N172T|MITF_uc003dod.2_Missense_Mutation_p.N163T|MITF_uc003doe.2_Missense_Mutation_p.N81T|MITF_uc003dof.2_Missense_Mutation_p.N81T	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	188					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTACGCTTAACTCCAACTGT	0.493	Melanoma(29;269 969 31479 41502 42961)		NA	A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						11	42					0	0	0.016723	0	0
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:101060619G>A	uc003dut.2	-	15	2222	c.2111C>T	c.(2110-2112)TCA>TTA	p.S704L	SENP7_uc003duu.2_Missense_Mutation_p.S639L|SENP7_uc003duv.2_Missense_Mutation_p.S671L|SENP7_uc003duw.2_Missense_Mutation_p.S638L|SENP7_uc003dux.2_Missense_Mutation_p.S540L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	704					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATCTGTGTTTGAGGGCTGACA	0.418			NA											4	43					0	0	0.009096	0	0
POLQ	10721	broad.mit.edu	37	3	121230866	121230866	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:121230866G>A	uc003eee.3	-	10	1608	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	493	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TACAAATTAAGATACTCTCGC	0.378	Pancreas(152;907 1925 26081 31236 36904)		NA						DNA_polymerases_(catalytic_subunits)					10	46					0	0	0.006214	0	0
ABCC5	10057	broad.mit.edu	37	3	183639187	183639187	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:183639187C>T	uc003fmg.2	-	30	4380	c.4215G>A	c.(4213-4215)GTG>GTA	p.V1405V	ABCC5_uc011bqt.1_Silent_p.V933V|ABCC5_uc010hxl.2_Silent_p.V1362V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1405	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAACTCCACCACCTGCAAAA	0.557			NA											10	39					0	0	0.008291	0	0
EPHB3	2049	broad.mit.edu	37	3	184297342	184297342	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:184297342G>C	uc003foz.2	+	10	2316	c.1879G>C	c.(1879-1881)GAG>CAG	p.E627Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	627	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTTTGCCAAGGAGATCGACGT	0.557			NA											5	57					0	0	0.014758	0	0
ZNF721	170960	broad.mit.edu	37	4	437398	437398	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:437398A>G	uc003gag.2	-	3	1549	c.858T>C	c.(856-858)TTT>TTC	p.F286F	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.F318F|ZNF721_uc010ibe.2_Silent_p.F274F	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	286						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TGGAAATATTAAAGGCTTTAC	0.393			NA											13	67					0	0	0.016723	0	0
WFS1	7466	broad.mit.edu	37	4	6296864	6296864	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:6296864A>T	uc003giy.2	+	7	975	c.809A>T	c.(808-810)GAT>GTT	p.D270V	WFS1_uc003gix.2_Missense_Mutation_p.D270V|WFS1_uc003giz.2_Missense_Mutation_p.D88V	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	270					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GACGACGAAGATGATGACGAG	0.597			NA											13	59					0	0	0.013537	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984969	41984969	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:41984969G>A	uc003gwk.2	+	1	1257	c.1160G>A	c.(1159-1161)CGG>CAG	p.R387Q		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	387										skin(1)	1						ATGGCTGTCCGGCAGGACCTT	0.567			NA											6	40					0	0	0.00308	0	0
KCTD8	386617	broad.mit.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:44449818G>A	uc003gwu.2	-	1	1007	c.723C>T	c.(721-723)ATC>ATT	p.I241I		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	241						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TGGCCAGCGCGATGCGCCCGC	0.667			NA								HNSCC(17;0.042)			3	11					0	0	0.004672	0	0
SPATA18	132671	broad.mit.edu	37	4	52928477	52928477	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:52928477A>C	uc003gzl.2	+	4	679	c.401A>C	c.(400-402)CAA>CCA	p.Q134P	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q134P|SPATA18_uc003gzk.1_Missense_Mutation_p.Q134P	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	134	Potential.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACCCGGAGTCAATGCAACCAG	0.363			NA											5	137					0	0	0.014758	0	0
LPHN3	23284	broad.mit.edu	37	4	62599069	62599069	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:62599069A>T	uc010ihh.2	+	5	1165	c.992A>T	c.(991-993)GAC>GTC	p.D331V	LPHN3_uc003hcq.3_Missense_Mutation_p.D331V|LPHN3_uc010ihg.1_Missense_Mutation_p.D399V|LPHN3_uc003hcs.1_Missense_Mutation_p.D160V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	331	Extracellular (Potential).|Olfactomedin-like.				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						GAGGATGATGACAATGAGGCT	0.378			NA											6	54					0	0	0.021553	0	0
MUC7	4589	broad.mit.edu	37	4	71347020	71347020	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:71347020G>C	uc011cat.1	+	4	847	c.559G>C	c.(559-561)GAG>CAG	p.E187Q	MUC7_uc011cau.1_Missense_Mutation_p.E187Q|MUC7_uc003hfj.2_Missense_Mutation_p.E187Q|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	187	1.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.587			NA											21	122					0	0	0.012319	0	0
AFP	174	broad.mit.edu	37	4	74308075	74308075	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:74308075C>G	uc003hgz.1	+	5	592	c.545C>G	c.(544-546)GCT>GGT	p.A182G	AFP_uc003hha.1_Missense_Mutation_p.A182G|AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	182	Albumin 1.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCTTTGGGCTGCTCGCTAT	0.378			NA							Alpha-Fetoprotein_Hereditary_Persistence_of				22	38					0	0	0.014323	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660856	77660856	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:77660856G>A	uc011cbx.1	+	5	2483	c.1530G>A	c.(1528-1530)AAG>AAA	p.K510K	SHROOM3_uc011cbz.1_Silent_p.K334K|SHROOM3_uc003hkf.1_Silent_p.K385K|SHROOM3_uc003hkg.2_Silent_p.K288K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	510					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)			CATGCAACAAGATGGCTACCA	0.547			NA											15	109					0	0	0.00499	0	0
EMCN	51705	broad.mit.edu	37	4	101331503	101331503	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:101331503G>C	uc003hvr.2	-	11	940	c.761C>G	c.(760-762)TCT>TGT	p.S254C	EMCN_uc011cel.1_Missense_Mutation_p.S241C|EMCN_uc011cem.1_Missense_Mutation_p.S171C	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	254	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TCCTTGTGCAGAGTGCTCACC	0.378			NA											14	120					0	0	0.028581	0	0
NHEDC1	150159	broad.mit.edu	37	4	103806449	103806449	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:103806449C>T	uc003hwu.2	-	12	1491	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K	CISD2_uc003hwt.3_Silent_p.L60L|NHEDC1_uc010ilm.2_Missense_Mutation_p.E224K|NHEDC1_uc003hwv.2_Intron	NM_001100874	NP_001094344	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 2	Error:Variant_position_missing_in_Q4ZJI4_after_alignment						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		GTCCATTCCTCCCGAAGAAGA	0.373			NA											22	92					0	0	0.016522	0	0
ARSJ	79642	broad.mit.edu	37	4	114824400	114824400	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:114824400C>A	uc003ibq.1	-	2	1718	c.830G>T	c.(829-831)AGG>ATG	p.R277M	ARSJ_uc010imu.1_Missense_Mutation_p.R277M|ARSJ_uc010imv.1_Missense_Mutation_p.R105M	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	277						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCGAAATACCTGCCAGGAGC	0.423			NA											16	74					2.35188e-11	2.71471e-11	0.006122	1	0
NDST3	9348	broad.mit.edu	37	4	118975516	118975516	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:118975516G>A	uc003ibx.2	+	2	854	c.451G>A	c.(451-453)GAT>AAT	p.D151N	NDST3_uc011cgf.1_Missense_Mutation_p.D151N|NDST3_uc003ibw.2_Missense_Mutation_p.D151N	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	151	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						AAGCCTTCTAGATAAATACTG	0.338			NA											8	52					0	0	0.006214	0	0
USP53	54532	broad.mit.edu	37	4	120213799	120213799	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:120213799C>G	uc003ics.3	+	18	3721	c.2655C>G	c.(2653-2655)ATC>ATG	p.I885M	USP53_uc003icr.3_Missense_Mutation_p.I885M|USP53_uc003icu.3_Missense_Mutation_p.I508M	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	885					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						AACAAAATATCATGGATCAAT	0.408			NA											10	42					0	0	0.008291	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160266332	160266332	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:160266332G>T	uc003iqg.3	+	18	3180	c.2870G>T	c.(2869-2871)CGT>CTT	p.R957L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	957					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGCGGGTACGTCGTAGTTCC	0.443			NA											98	108					8.84886e-50	1.12014e-49	0.01441	1	0
CDH6	1004	broad.mit.edu	37	5	31316422	31316422	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:31316422G>T	uc003jhe.1	+	9	1824	c.1498G>T	c.(1498-1500)GCA>TCA	p.A500S	CDH6_uc003jhd.1_Missense_Mutation_p.A500S	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	500	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CTGTGAAAAAGCAAAGGCAGA	0.313			NA											25	33					1.1804e-14	1.38929e-14	0.021523	1	0
AGXT2	64902	broad.mit.edu	37	5	35010148	35010148	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:35010148C>T	uc003jjf.2	-	12	1374	c.1295G>A	c.(1294-1296)CGA>CAA	p.R432Q	AGXT2_uc003jje.1_Missense_Mutation_p.R85Q|AGXT2_uc011com.1_Missense_Mutation_p.R357Q	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	432					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCTTTGCCTCGGACGTCTCC	0.448			NA											17	76					0	0	0.028581	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:35771819G>T	uc003jjo.2	+	27	4021	c.3910G>T	c.(3910-3912)GAG>TAG	p.E1304*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.E790*|SPEF2_uc003jjr.2_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403			NA											18	52					3.41278e-10	3.85433e-10	0.00499	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64747409	64747409	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:64747409G>A	uc003jtp.2	-	7	1780	c.966C>T	c.(964-966)CTC>CTT	p.L322L	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGAAGCTATCGAGGGACTTGT	0.413			NA											28	50					0	0	0.00632	0	0
GCNT4	51301	broad.mit.edu	37	5	74325767	74325767	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:74325767T>C	uc003kdn.2	-	1	958	c.96A>G	c.(94-96)CTA>CTG	p.L32L		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	32	Helical; Signal-anchor for type II membrane protein; (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GTCTCACATTTAGAAGCTTTA	0.363			NA											61	210					0	0	0.01441	0	0
THBS4	7060	broad.mit.edu	37	5	79378926	79378926	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:79378926G>A	uc003kgh.2	+	23	3171	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	950					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGACTTCCAAGAGTTTCAAAC	0.502			NA									OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	134					0	0	0.009718	0	0
NR2F1	7025	broad.mit.edu	37	5	92929473	92929473	+	Silent	SNP	C	C	T	rs138827038	byFrequency	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:92929473C>T	uc003kkj.2	+	3	2884	c.1197C>T	c.(1195-1197)ATC>ATT	p.I399I		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	399					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AAACCCCCATCGAAACTCTCA	0.572			NA											23	95					0	0	0.01892	0	0
SKP1	6500	broad.mit.edu	37	5	133502893	133502893	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:133502893G>C	uc003kzc.3	-	3	318	c.139C>G	c.(139-141)CTA>GTA	p.L47V	SKP1_uc003kzd.3_Missense_Mutation_p.L47V|SKP1_uc010jdv.2_Missense_Mutation_p.L47V	NM_170679	NP_733779	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1 isoform b	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATTTGGTAGAGGAACTGGG	0.303			NA											29	48					0	0	0.010818	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249821	140249821	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:140249821C>T	uc003lia.2	+	1	1991	c.1133C>T	c.(1132-1134)TCA>TTA	p.S378L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.S378L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	378	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTGACTCAGGTGTCAAC	0.587			NA											18	91					0	0	0.006122	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719744	140719744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:140719744C>A	uc003ljk.1	+	1	1391	c.1206C>A	c.(1204-1206)TAC>TAA	p.Y402*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Nonsense_Mutation_p.Y402*	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	402	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATTACTACCGACTGGTTA	0.463			NA											34	57					2.42023e-17	2.8809e-17	0.015359	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149214257	149214257	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:149214257C>A	uc003lrc.2	+	6	1768	c.1726C>A	c.(1726-1728)CTG>ATG	p.L576M	PPARGC1B_uc003lrb.1_Missense_Mutation_p.L576M|PPARGC1B_uc003lrd.2_Missense_Mutation_p.L537M|PPARGC1B_uc003lrf.2_Missense_Mutation_p.L555M|PPARGC1B_uc003lre.1_Missense_Mutation_p.L555M	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	576					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGCCTCATGCTGGCCTTGTC	0.433			NA									OREG0016922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	77					2.7689e-08	3.07737e-08	0.001984	1	0
GRIA1	2890	broad.mit.edu	37	5	152870470	152870470	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:152870470T>C	uc003lva.3	+	1	387	c.22T>C	c.(22-24)TTC>CTC	p.F8L	GRIA1_uc003luy.3_Missense_Mutation_p.F8L|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.F8L|GRIA1_uc011dcx.1_5'Flank|GRIA1_uc011dcy.1_5'Flank|GRIA1_uc011dcz.1_5'Flank|GRIA1_uc010jia.1_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	8					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTGCCTTCTTCTGCACCGG	0.502			NA											13	338					0	0	0.016723	0	0
ATP10B	23120	broad.mit.edu	37	5	160047786	160047786	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:160047786C>T	uc003lym.1	-	15	2831	c.1984G>A	c.(1984-1986)GAG>AAG	p.E662K	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.E220K	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	662	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCTCTCTCATCCGAGTCT	0.582			NA											25	52					0	0	0.016522	0	0
GABRG2	2566	broad.mit.edu	37	5	161580236	161580236	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:161580236A>C	uc003lyz.3	+	9	1624	c.1266A>C	c.(1264-1266)GAA>GAC	p.E422D	GABRG2_uc010jjc.2_Missense_Mutation_p.E470D|GABRG2_uc003lyy.3_Missense_Mutation_p.E430D|GABRG2_uc011dej.1_Missense_Mutation_p.E327D	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	422	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCTGTTTTGAAGATTGTCGAA	0.468			NA											25	155					0	0	0.01892	0	0
ODZ2	57451	broad.mit.edu	37	5	167420063	167420063	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:167420063G>A	uc010jjd.2	+	5	1062	c.1062G>A	c.(1060-1062)AGG>AGA	p.R354R	ODZ2_uc003lzq.2_Silent_p.R233R|ODZ2_uc003lzr.3_Silent_p.R163R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGCTGCCCAGGAATACTTTCT	0.602			NA											17	66					0	0	0.028581	0	0
DOCK2	1794	broad.mit.edu	37	5	169111353	169111353	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:169111353A>C	uc003maf.2	+	8	840	c.760A>C	c.(760-762)AGT>CGT	p.S254R	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	254					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACGGTCATAAGGTAGGTGTG	0.488			NA											9	132					0	0	0.004482	0	0
DOCK2	1794	broad.mit.edu	37	5	169508967	169508967	+	Silent	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:169508967C>A	uc003maf.2	+	51	5489	c.5409C>A	c.(5407-5409)GTC>GTA	p.V1803V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V1295V|DOCK2_uc003mah.2_Silent_p.V359V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1803					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGAAGGTCAATCAGTTCT	0.512			NA											18	66					1.96292e-10	2.24105e-10	0.010504	1	0
HLA-H	3136	broad.mit.edu	37	6	29855800	29855800	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:29855800T>A	uc010jro.2	+	2	89	c.37T>A	c.(37-39)TCC>ACC	p.S13T	HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA					SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H;												0						CCGCTTCATCTCCGTCGGCTA	0.692			NA											3	12					0	0	0.014758	0	0
MDC1	9656	broad.mit.edu	37	6	30672360	30672360	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:30672360C>A	uc003nrg.3	-	10	5040	c.4600G>T	c.(4600-4602)GCC>TCC	p.A1534S	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1141S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1534	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						AGCTCAGGGGCTGCGGGCACA	0.587			NA						Other_conserved_DNA_damage_response_genes					64	299					1.42676e-28	1.78452e-28	0.01441	1	0
ZBTB12	221527	broad.mit.edu	37	6	31868936	31868936	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:31868936G>A	uc003nyd.1	-	2	323	c.147C>T	c.(145-147)GTC>GTT	p.V49V	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	49	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGCCAAGATGACCTTGTGGC	0.632			NA											5	34					0	0	0.021553	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496627	34496627	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:34496627G>C	uc003ojo.2	+	4	635	c.429G>C	c.(427-429)CAG>CAC	p.Q143H	PACSIN1_uc003ojp.2_Missense_Mutation_p.Q143H	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	143					endocytosis		protein kinase activity				0						GCAAGGCCCAGAAGCCTTGGG	0.607			NA											46	33					0	0	0.01441	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773660	35773660	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:35773660C>T	uc003olg.1	+	1	590	c.213C>T	c.(211-213)AAC>AAT	p.N71N		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	71	Helical; (Potential).					integral to membrane				skin(1)	1						GCGTGGGTAACGTGCTGTCCT	0.587			NA											37	179					0	0	0.019004	0	0
DNAH8	1769	broad.mit.edu	37	6	38747797	38747797	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:38747797C>T	uc003ooe.1	+	13	2044	c.1444C>T	c.(1444-1446)CGT>TGT	p.R482C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CACAATAGAGCGTATTCTTCA	0.323			NA											4	55					0	0	0.021553	0	0
C6orf130	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:41036604C>T	uc003opm.2	-	5	504	c.332G>A	c.(331-333)GGA>GAA	p.G111E	UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.2_Missense_Mutation_p.G111E|C6orf130_uc003opn.2_Intron	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	111	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCAGTGACTCCATTCTTCAG	0.408			NA											9	63					0	0	0.006214	0	0
UBR2	23304	broad.mit.edu	37	6	42657311	42657311	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:42657311C>G	uc011dur.1	+	46	5029	c.5029C>G	c.(5029-5031)CGG>GGG	p.R1677G	UBR2_uc011dus.1_Missense_Mutation_p.R1322G|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Missense_Mutation_p.R265G|UBR2_uc011duu.1_Missense_Mutation_p.R69G	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1677					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTACAGAGTACGGGAATGTCA	0.393			NA											5	717					0	0	0.014758	0	0
TRAM2	9697	broad.mit.edu	37	6	52370505	52370505	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:52370505C>A	uc003paq.2	-	9	916	c.767G>T	c.(766-768)CGC>CTC	p.R256L	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	256	TLC.|Helical; (Potential).				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCC	0.537			NA											36	46					6.70999e-13	7.76653e-13	0.019004	1	0
GFRAL	389400	broad.mit.edu	37	6	55264023	55264023	+	Missense_Mutation	SNP	G	G	C	rs137898068		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:55264023G>C	uc003pcm.1	+	7	1084	c.998G>C	c.(997-999)AGA>ACA	p.R333T		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	333	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGTATACAAGAAAACATGCA	0.274			NA											7	30					0	0	0.00308	0	0
FAM135A	57579	broad.mit.edu	37	6	71248050	71248050	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:71248050C>G	uc003pfj.2	+	18	4307	c.4174C>G	c.(4174-4176)CGA>GGA	p.R1392G	FAM135A_uc003pfi.2_Missense_Mutation_p.R1196G|FAM135A_uc003pfh.2_Missense_Mutation_p.R1179G|FAM135A_uc003pfl.2_Missense_Mutation_p.R1059G|FAM135A_uc003pfn.2_Missense_Mutation_p.R598G|FAM135A_uc003pfo.1_Missense_Mutation_p.R763G|FAM135A_uc010kan.1_Intron	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1392										central_nervous_system(1)	1						GCTGACATGTCGAGATCACTC	0.323			NA											10	60					0	0	0.008291	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90566859	90566859	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:90566859C>G	uc003pnr.2	+	6	553	c.357C>G	c.(355-357)ATC>ATG	p.I119M	CASP8AP2_uc003pns.2_Missense_Mutation_p.I119M|CASP8AP2_uc003pnt.2_Missense_Mutation_p.I119M|CASP8AP2_uc011dzz.1_Missense_Mutation_p.I119M	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	119					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGCACTTATCAAAACTGCCA	0.338	Colon(187;1656 2025 17045 31481 39901)		NA											4	10					0	0	0.014758	0	0
C6orf170	221322	broad.mit.edu	37	6	121402010	121402010	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:121402010C>T	uc003pyo.1	-	32	3749	c.3681G>A	c.(3679-3681)GTG>GTA	p.V1227V		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1227	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AATAATCACTCACTCGAAACC	0.358			NA											33	46					0	0	0.012213	0	0
ECHDC1	55862	broad.mit.edu	37	6	127636021	127636021	+	Missense_Mutation	SNP	G	G	A	rs146146402		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:127636021G>A	uc003qax.2	-	5	491	c.455C>T	c.(454-456)GCG>GTG	p.A152V	ECHDC1_uc003qaz.3_Missense_Mutation_p.A146V|ECHDC1_uc010key.2_Missense_Mutation_p.A71V|ECHDC1_uc003qay.3_Silent_p.C128C|ECHDC1_uc010kez.2_Silent_p.C53C|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	152							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TTGAACCAGCGCAACACTTAT	0.289			NA											9	67					0	0	0.010729	0	0
OLIG3	167826	broad.mit.edu	37	6	137815158	137815158	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:137815158C>T	uc003qhp.1	-	1	374	c.150G>A	c.(148-150)AAG>AAA	p.K50K		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	50					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)		CCCCGGGCATCTTCTGCATCA	0.517			NA											4	148					0	0	0.014758	0	0
SHPRH	257218	broad.mit.edu	37	6	146264343	146264343	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:146264343G>T	uc003qlf.2	-	9	2573	c.2174C>A	c.(2173-2175)TCC>TAC	p.S725Y	SHPRH_uc003qld.2_Missense_Mutation_p.S725Y|SHPRH_uc003qle.2_Missense_Mutation_p.S725Y|SHPRH_uc003qlg.1_Missense_Mutation_p.S281Y|SHPRH_uc003qlj.1_Missense_Mutation_p.S614Y	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	725	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTGACAGATGGAACTTGGAGA	0.473			NA											8	94					0.00307968	0.00327509	0.00308	1	0
GRM1	2911	broad.mit.edu	37	6	146720735	146720735	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:146720735G>A	uc010khw.1	+	8	3030	c.2560G>A	c.(2560-2562)GAT>AAT	p.D854N	GRM1_uc010khv.1_Missense_Mutation_p.D854N|GRM1_uc003qll.2_Missense_Mutation_p.D854N|GRM1_uc011edz.1_Missense_Mutation_p.D854N|GRM1_uc011eea.1_Missense_Mutation_p.D854N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	854	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CACCACCTCTGATGTTGTCCG	0.532			NA											10	54					0	0	0.006214	0	0
CARD11	84433	broad.mit.edu	37	7	2946328	2946328	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:2946328C>T	uc003smv.2	-	25	3813	c.3409G>A	c.(3409-3411)GAC>AAC	p.D1137N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1137	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGATCTTGTCCTTGACAACG	0.662			NA	Mis		DLBCL								8	74					0	0	0.004482	0	0
FBXL18	80028	broad.mit.edu	37	7	5540616	5540616	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:5540616G>A	uc003soo.2	-	3	1378	c.1284C>T	c.(1282-1284)TCC>TCT	p.S428S	FBXL18_uc003son.3_Silent_p.S428S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	428										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		cgcgcggcgcggAGTCAGCGA	0.557			NA											5	15					0	0	0.021553	0	0
PHF14	9678	broad.mit.edu	37	7	11068332	11068332	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:11068332C>T	uc003sry.1	+	7	1777	c.1342C>T	c.(1342-1344)CGC>TGC	p.R448C	PHF14_uc011jxi.1_Missense_Mutation_p.R163C|PHF14_uc003srz.2_Missense_Mutation_p.R448C|PHF14_uc011jxj.1_Missense_Mutation_p.R163C	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	448							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGAAGACCCTCGCTTTGCTAG	0.433			NA											8	56					0	0	0.004482	0	0
STK31	56164	broad.mit.edu	37	7	23830456	23830456	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:23830456C>T	uc003sws.3	+	22	2718	c.2651C>T	c.(2650-2652)TCG>TTG	p.S884L	STK31_uc003swt.3_Missense_Mutation_p.S861L|STK31_uc011jze.1_Missense_Mutation_p.S884L|STK31_uc010kuq.2_Missense_Mutation_p.S861L|STK31_uc003swv.1_Missense_Mutation_p.S50L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	884	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CAGCGAGCCTCGGTGAACATG	0.398			NA											7	73					0	0	0.004482	0	0
AQP1	358	broad.mit.edu	37	7	30963079	30963079	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:30963079G>A	uc003tbv.1	+	4	702	c.645G>A	c.(643-645)GGG>GGA	p.G215G	AQP1_uc011kac.1_Silent_p.G275G|AQP1_uc010kwf.1_Silent_p.G132G|AQP1_uc010kwg.1_Silent_p.G96G|AQP1_uc010kwh.1_Silent_p.G164G	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	215	Helical; Name=Helix 6.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	TCTGGGTGGGGCCATTCATCG	0.612			NA											10	69					0	0	0.008291	0	0
BBS9	27241	broad.mit.edu	37	7	33427662	33427662	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:33427662G>A	uc003tdn.1	+	19	2534	c.2021G>A	c.(2020-2022)CGG>CAG	p.R674Q	BBS9_uc003tdo.1_Missense_Mutation_p.R639Q|BBS9_uc003tdp.1_Missense_Mutation_p.R669Q|BBS9_uc003tdq.1_Missense_Mutation_p.R634Q|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R198Q|BBS9_uc003tds.1_Missense_Mutation_p.R97Q|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GTACAATTTCGGGCCATTCAA	0.403			NA							Bardet-Biedl_syndrome				22	278					0	0	0.016522	0	0
SUN3	256979	broad.mit.edu	37	7	48033980	48033980	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:48033980C>G	uc003tof.2	-	9	890	c.793G>C	c.(793-795)GAG>CAG	p.E265Q	SUN3_uc010kyq.2_Missense_Mutation_p.E165Q|SUN3_uc003tog.2_Missense_Mutation_p.E265Q|SUN3_uc011kcf.1_Missense_Mutation_p.E253Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	265	SUN.					integral to membrane				central_nervous_system(1)	1						GAGATGTGCTCCATGGTAACA	0.458			NA											26	193					0	0	0.027356	0	0
SUN3	256979	broad.mit.edu	37	7	48035654	48035654	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:48035654C>T	uc003tof.2	-	8	764	c.667G>A	c.(667-669)GAA>AAA	p.E223K	SUN3_uc010kyq.2_Missense_Mutation_p.E123K|SUN3_uc003tog.2_Missense_Mutation_p.E223K|SUN3_uc011kcf.1_Missense_Mutation_p.E211K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	223	SUN.					integral to membrane				central_nervous_system(1)	1						GGAGGCATTTCATGATTTAGG	0.284			NA											20	131					0	0	0.012319	0	0
IKZF1	10320	broad.mit.edu	37	7	50455159	50455159	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:50455159C>G	uc003tow.3	+	7	874	c.706C>G	c.(706-708)CTG>GTG	p.L236V	IKZF1_uc003tox.3_Intron|IKZF1_uc003toy.3_Intron|IKZF1_uc011kck.1_Missense_Mutation_p.L149V|IKZF1_uc003toz.3_Missense_Mutation_p.L206V|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	236					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCCGGGCACACTGTACCCAGG	0.582			NA	D		ALL								9	15					0	0	0.006214	0	0
POM121L12	285877	broad.mit.edu	37	7	53103781	53103781	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:53103781C>G	uc003tpz.2	+	1	433	c.417C>G	c.(415-417)ATC>ATG	p.I139M		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	139											0						CGGTGACCATCGGGATCGCGC	0.582			NA											4	48					0	0	0.014758	0	0
ZP3	7784	broad.mit.edu	37	7	76058924	76058924	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:76058924G>C	uc003ufd.3	+	2	415	c.405G>C	c.(403-405)GAG>GAC	p.E135D	ZP3_uc003ufc.3_Missense_Mutation_p.E84D|ZP3_uc003ufe.2_Missense_Mutation_p.E43D	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	135	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						ACCGCGCAGAGATTCCCATCG	0.622			NA											25	26					0	0	0.021523	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966042	88966042	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:88966042C>G	uc011khi.1	+	4	4284	c.3746C>G	c.(3745-3747)TCG>TGG	p.S1249W		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCATTTTCGACTCTGACT	0.458			NA								HNSCC(36;0.09)			9	158					0	0	0.008291	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762501	92762501	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:92762501G>A	uc003umh.1	-	5	4000	c.2784C>T	c.(2782-2784)CTC>CTT	p.L928L	SAMD9L_uc003umj.1_Silent_p.L928L|SAMD9L_uc003umi.1_Silent_p.L928L|SAMD9L_uc010lfb.1_Silent_p.L928L|SAMD9L_uc003umk.1_Silent_p.L928L|SAMD9L_uc010lfc.1_Silent_p.L928L|SAMD9L_uc010lfd.1_Silent_p.L928L|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	928										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATAAGAGCTGAGTAAAGCCA	0.368			NA											12	10					0	0	0.016723	0	0
PTCD1	26024	broad.mit.edu	37	7	99022694	99022694	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:99022694G>A	uc003uqh.2	-	6	1592	c.1461C>T	c.(1459-1461)ATC>ATT	p.I487I	PTCD1_uc011kiw.1_Silent_p.I536I	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	487										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGGGTCCTGATGTCGGGCT	0.647			NA											22	27					0	0	0.014323	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431286	117431286	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:117431286G>A	uc003vjf.2	-	4	2056	c.1964C>T	c.(1963-1965)TCC>TTC	p.S655F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	655										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AATGACAAGGGAACTGTCTGA	0.577			NA											6	65					0	0	0.021553	0	0
DGKI	9162	broad.mit.edu	37	7	137282598	137282598	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:137282598C>T	uc003vtt.2	-	12	1307	c.1306G>A	c.(1306-1308)GGA>AGA	p.G436R	DGKI_uc003vtu.2_Missense_Mutation_p.G136R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	436	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CCTACCGTTCCATCCCCACCA	0.393			NA											8	27					0	0	0.004482	0	0
AGAP3	116988	broad.mit.edu	37	7	150817229	150817229	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:150817229C>T	uc003wjg.1	+	8	1128	c.1125C>T	c.(1123-1125)TTC>TTT	p.F375F	AGAP3_uc003wje.1_Silent_p.F147F|AGAP3_uc003wjf.1_Silent_p.F375F|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.F555F|AGAP3_uc003wji.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	339	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						CCAACATCTTCACGGTACGTG	0.687			NA											6	16					0	0	0.021553	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497624	1497624	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:1497624C>T	uc003wpl.2	+	2	862	c.765C>T	c.(763-765)TTC>TTT	p.F255F	DLGAP2_uc003wpm.2_Silent_p.F255F	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	334					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGCCCCTTCGGGGACCTGT	0.667			NA											31	86					0	0	0.015359	0	0
PRSS55	203074	broad.mit.edu	37	8	10387085	10387085	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:10387085G>C	uc003wta.2	+	2	238	c.223G>C	c.(223-225)GAG>CAG	p.E75Q	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	75	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						GATGGAGGCGGAGGTGGGTGA	0.512			NA											84	227					0	0	0.01441	0	0
DOK2	9046	broad.mit.edu	37	8	21768239	21768240	+	Nonsense_Mutation	DNP	CC	CC	TA			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:21768239_21768240CC>TA	uc003wzy.1	-	4	655_656	c.562_563GG>TA	c.(562-564)GGG>TAG	p.G188*	DOK2_uc003wzx.1_Nonsense_Mutation_p.G188*|DOK2_uc003wzz.1_Nonsense_Mutation_p.G34*|DOK2_uc010lth.1_Nonsense_Mutation_p.G34*	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	188	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CAGCTGGGTCCCTGGCTCGGGC	0.634			NA											15	32					0	0	0.004672	0	0
PPP3CC	5533	broad.mit.edu	37	8	22368701	22368701	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:22368701G>A	uc003xbs.2	+	5	914	c.587G>A	c.(586-588)GGA>GAA	p.G196E	PPP3CC_uc003xbr.1_Missense_Mutation_p.G196E|PPP3CC_uc011kzi.1_Missense_Mutation_p.G196E|PPP3CC_uc003xbt.2_Missense_Mutation_p.G196E	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	196					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTGTACATGGAGGAATGTCA	0.363			NA											8	102					0	0	0.00308	0	0
ADAM7	8756	broad.mit.edu	37	8	24324370	24324370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:24324370G>T	uc003xeb.2	+	6	561	c.448G>T	c.(448-450)GAG>TAG	p.E150*	ADAM7_uc003xea.1_Nonsense_Mutation_p.E150*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	150	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATACTCAGATGAGGGAGAACA	0.393			NA											49	107					2.43468e-25	3.00039e-25	0.01441	1	0
CCDC25	55246	broad.mit.edu	37	8	27598009	27598009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:27598009C>A	uc003xgc.2	-	8	690	c.577G>T	c.(577-579)GAA>TAA	p.E193*	CCDC25_uc003xgd.2_Nonsense_Mutation_p.E125*|CCDC25_uc011lan.1_RNA|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	193											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GACATATTTTCAACTTTCATT	0.264			NA											64	145					3.07281e-33	3.87804e-33	0.01441	1	0
TEX15	56154	broad.mit.edu	37	8	30704643	30704643	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:30704643C>T	uc003xil.2	-	1	1891	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	631										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTGGACTTTCAGAAGAACAA	0.323			NA											23	81					0	0	0.016522	0	0
LOC728024	728024	broad.mit.edu	37	8	37605166	37605166	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:37605166G>C	uc010lvx.1	-	1	356	c.210C>G	c.(208-210)GTC>GTG	p.V70V	ERLIN2_uc003xke.3_Intron	NR_003671				SubName: Full=cDNA FLJ38978 fis, clone NT2RI2004209; SubName: Full=Chromosome X open reading frame 56, isoform CRA_b; SubName: Full=Putative uncharacterized protein CXorf56;												0						CAAACTTGACGACTGCTCCAT	0.468			NA											25	55					0	0	0.01892	0	0
PRKDC	5591	broad.mit.edu	37	8	48805717	48805717	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:48805717C>G	uc003xqi.2	-	32	3887	c.3830G>C	c.(3829-3831)GGA>GCA	p.G1277A	PRKDC_uc003xqj.2_Missense_Mutation_p.G1277A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1277					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGAGCGCTCCTACAGTTCT	0.607	Esophageal Squamous(79;1091 1253 12329 31680 40677)		NA						NHEJ					4	24					0	0	0.014758	0	0
PXDNL	137902	broad.mit.edu	37	8	52321922	52321922	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:52321922C>A	uc003xqu.3	-	17	2363	c.2262G>T	c.(2260-2262)CAG>CAT	p.Q754H	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	754					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTAGGCTGGCTGCAGCAGGC	0.751			NA											5	10					5.9392e-07	6.51446e-07	0.021553	1	0
NSMAF	8439	broad.mit.edu	37	8	59512531	59512531	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:59512531C>T	uc003xtt.2	-	17	1544	c.1330G>A	c.(1330-1332)GAG>AAG	p.E444K	NSMAF_uc011lee.1_Missense_Mutation_p.E475K	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	444	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGCTTACCTCTTTAAAATCC	0.333			NA											9	66					0	0	0.008291	0	0
LACTB2	51110	broad.mit.edu	37	8	71556453	71556453	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:71556453C>T	uc011lfd.1	-	4	531	c.439G>A	c.(439-441)GAT>AAT	p.D147N	LACTB2_uc003xyp.2_Missense_Mutation_p.D147N	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	147							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATGTGATCATCAGTGTGGCCA	0.363			NA											55	260					0	0	0.01441	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886265	88886265	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:88886265T>A	uc003ydz.2	-	1	32	c.-65A>T	c.(-67--63)GAAGC>GATGC			NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C											ovary(1)	1						GAAGTACCGCTTCTTTACAAG	0.582			NA											8	7					0	0	0.00308	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378836	92378836	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:92378836C>T	uc003yex.2	+	15	1795	c.1517C>T	c.(1516-1518)TCA>TTA	p.S506L	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S506L|SLC26A7_uc003yfa.2_Missense_Mutation_p.S506L	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	506	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAAATTATCTCAATAAACAAC	0.328			NA											13	51					0	0	0.016723	0	0
RIMS2	9699	broad.mit.edu	37	8	104709462	104709462	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:104709462T>C	uc003ylp.2	+	2	464	c.325T>C	c.(325-327)TCA>CCA	p.S109P		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	140	FYVE-type.|RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCATAACTGTTCATATTGCCA	0.438			NA								HNSCC(12;0.0054)			3	132					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113316974	113316974	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:113316974T>C	uc003ynu.2	-	52	8401	c.8242A>G	c.(8242-8244)AGA>GGA	p.R2748G	CSMD3_uc003yns.2_Missense_Mutation_p.R1950G|CSMD3_uc003ynt.2_Missense_Mutation_p.R2708G|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2748	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTTCATTTCTCCAACTCCAA	0.368			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	65					0	0	0.021553	0	0
TRPS1	7227	broad.mit.edu	37	8	116599829	116599829	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:116599829C>T	uc003ynz.2	-	4	2519	c.2060G>A	c.(2059-2061)AGA>AAA	p.R687K	TRPS1_uc011lhy.1_Missense_Mutation_p.R691K|TRPS1_uc003yny.2_Missense_Mutation_p.R700K|TRPS1_uc010mcy.2_Missense_Mutation_p.R687K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	687	Mediates interaction with GLI3.|C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCTGTGTGCTCTCCTGGAGAA	0.448			NA							Langer-Giedion_syndrome				36	99					0	0	0.027894	0	0
OC90	729330	broad.mit.edu	37	8	133062114	133062114	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:133062114C>A	uc003ytg.2	-	1	3	c.3G>T	c.(1-3)ATG>ATT	p.M1I	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	Error:Variant_position_missing_in_Q02509_after_alignment					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTCAGCTGCCATCTTTGGAC	0.418			NA											29	60					7.01153e-11	8.02687e-11	0.007291	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136554916	136554916	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:136554916T>G	uc003yuv.2	+	3	621	c.227T>G	c.(226-228)CTT>CGT	p.L76R	KHDRBS3_uc003yuw.2_Missense_Mutation_p.L76R	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	76	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTGGGGAAACTTTTGGGTCCA	0.373			NA											10	103					0	0	0.008291	0	0
CNTLN	54875	broad.mit.edu	37	9	17409351	17409351	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:17409351G>C	uc003zmz.2	+	16	2699	c.2673G>C	c.(2671-2673)CAG>CAC	p.Q891H	CNTLN_uc003zmy.2_Missense_Mutation_p.Q892H|CNTLN_uc010mio.2_Missense_Mutation_p.Q571H	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	892						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACATCCCAGAAAATAAGTC	0.343			NA											55	65					0	0	0.01441	0	0
BAG1	573	broad.mit.edu	37	9	33264328	33264328	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:33264328C>T	uc003zsj.2	-	1	434	c.345G>A	c.(343-345)GAG>GAA	p.E115E	SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Intron|BAG1_uc003zsk.2_5'UTR|CHMP5_uc003zsl.3_5'UTR|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank	NM_004323	NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene isoform 1L	115	7 X 6 AA tandem repeat of E-E-X(4).|4.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCGATTCATCTCTTCGCCCT	0.647	GBM(77;1066 1502 5858 12192)		NA											26	16					0	0	0.024334	0	0
PTCH1	5727	broad.mit.edu	37	9	98242859	98242859	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:98242859G>A	uc004avk.3	-	6	946	c.758C>T	c.(757-759)CCT>CTT	p.P253L	PTCH1_uc010mro.2_Missense_Mutation_p.P102L|PTCH1_uc010mrp.2_Missense_Mutation_p.P102L|PTCH1_uc010mrq.2_Missense_Mutation_p.P102L|PTCH1_uc004avl.3_Missense_Mutation_p.P102L|PTCH1_uc010mrr.2_Missense_Mutation_p.P187L|PTCH1_uc004avm.3_Missense_Mutation_p.P252L|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	253	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCACCGCAAAGGAGGTTTACC	0.458			NA							Basal_Cell_Nevus_syndrome				8	44					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	9	98774545	98774545	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:98774545C>G	uc010msa.1	+	4	1532	c.656C>G	c.(655-657)TCT>TGT	p.S219C	uc011lun.1_Intron					RecName: Full=Uncharacterized protein C9orf102;												NA						TTTAACTCGTCTTCTGTAAAC	0.299			NA											3	19					0	0	0.004672	0	0
CYLC2	1539	broad.mit.edu	37	9	105767260	105767260	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:105767260A>C	uc004bbs.2	+	5	417	c.347A>C	c.(346-348)AAG>ACG	p.K116T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	116	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				GAAATTGGTAAGAAAGGTGAA	0.229			NA											5	54					0	0	0.00308	0	0
PAPPA	5069	broad.mit.edu	37	9	118949434	118949434	+	Silent	SNP	G	G	A	rs138083509		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:118949434G>A	uc004bjn.2	+	2	798	c.417G>A	c.(415-417)GGG>GGA	p.G139G	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	139					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCCACATAGGGCTGTATGACA	0.408			NA											10	60					0	0	0.010729	0	0
TLR4	7099	broad.mit.edu	37	9	120476246	120476246	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:120476246G>A	uc004bjz.2	+	3	2131	c.1840G>A	c.(1840-1842)GAT>AAT	p.D614N	TLR4_uc004bka.2_Missense_Mutation_p.D574N|TLR4_uc004bkb.2_Missense_Mutation_p.D414N	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	614	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AACACCTTCAGATAAGCAGGG	0.463			NA											12	28					0	0	0.010729	0	0
TLR4	7099	broad.mit.edu	37	9	120476748	120476748	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:120476748A>G	uc004bjz.2	+	3	2633	c.2342A>G	c.(2341-2343)CAG>CGG	p.Q781R	TLR4_uc004bka.2_Missense_Mutation_p.Q741R|TLR4_uc004bkb.2_Missense_Mutation_p.Q581R	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	781	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CTGCTCAGGCAGCAGGTGGAG	0.537			NA											7	60					0	0	0.001984	0	0
OR5C1	392391	broad.mit.edu	37	9	125551304	125551304	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:125551304C>T	uc011lzd.1	+	1	93	c.93C>T	c.(91-93)CTC>CTT	p.L31L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GTGTGGCCCTCTTCCTGACCT	0.612			NA											26	55					0	0	0.024334	0	0
CDK9	1025	broad.mit.edu	37	9	130551617	130551617	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:130551617A>C	uc004bse.2	+	7	1037	c.914A>C	c.(913-915)GAC>GCC	p.D305A		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	305	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CAGCGCATCGACAGCGATGAC	0.607			NA											6	26					0	0	0.001984	0	0
CARD9	64170	broad.mit.edu	37	9	139265114	139265114	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:139265114C>T	uc004chg.3	-	5	833	c.667G>A	c.(667-669)GAC>AAC	p.D223N	CARD9_uc011mdw.1_Missense_Mutation_p.D223N|CARD9_uc011mdx.1_Missense_Mutation_p.D119N|CARD9_uc010nbj.2_3'UTR	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	223	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTTGCAGTCGTCCTCGGCC	0.657			NA											5	39					0	0	0.021553	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821683	5821683	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:5821683C>A	uc010ndh.2	-	5	1537	c.1036G>T	c.(1036-1038)GGC>TGC	p.G346C	NLGN4X_uc004crp.2_Missense_Mutation_p.G366C|NLGN4X_uc004crq.2_Missense_Mutation_p.G346C|NLGN4X_uc010ndi.2_Missense_Mutation_p.G383C|NLGN4X_uc004crr.2_Missense_Mutation_p.G346C|NLGN4X_uc010ndj.2_Missense_Mutation_p.G346C	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	346	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ATGACGTCGCCGTCGATCACC	0.582			NA											37	19					1.00001e-27	1.24333e-27	0.009718	1	0
GK	2710	broad.mit.edu	37	X	30739036	30739036	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:30739036C>T	uc004dch.3	+	18	1604	c.1425C>T	c.(1423-1425)GTC>GTT	p.V475V	GK_uc010ngj.2_Silent_p.V469V|GK_uc004dci.3_Silent_p.V469V|GK_uc011mjz.1_Silent_p.V270V|GK_uc011mka.1_Silent_p.V312V|GK_uc010ngk.2_Silent_p.V264V	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	475					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						CAGAAGGAGTCGGCGTATGGA	0.522			NA											13	8					0	0	0.020292	0	0
CCNB3	85417	broad.mit.edu	37	X	50053789	50053789	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:50053789T>G	uc004dox.3	+	6	2918	c.2620T>G	c.(2620-2622)TTT>GTT	p.F874V	CCNB3_uc004doy.2_Missense_Mutation_p.F874V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	874					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGAGGCCCTCTTTAAGCGACA	0.512			NA											17	28					0	0	0.006122	0	0
KDM5C	8242	broad.mit.edu	37	X	53223699	53223699	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:53223699G>C	uc004drz.2	-	23	4193	c.3660C>G	c.(3658-3660)CTC>CTG	p.L1220L	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.L1153L|KDM5C_uc004dsa.2_Silent_p.L1219L|uc004dsb.1_RNA	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1220	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TCGGAGAGCTGAGGAGGCGAG	0.632			NA	N|F|S		clear cell renal carcinoma								5	5					0	0	0.021553	0	0
TRO	7216	broad.mit.edu	37	X	54949381	54949381	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:54949381C>T	uc004dtq.2	+	3	523	c.416C>T	c.(415-417)GCC>GTC	p.A139V	TRO_uc011moj.1_Missense_Mutation_p.A82V|TRO_uc004dts.2_Missense_Mutation_p.A139V|TRO_uc004dtr.2_Missense_Mutation_p.A139V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	139					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CCTAAGAAAGCCAACAAGATG	0.517			NA											17	13					0	0	0.006122	0	0
AR	367	broad.mit.edu	37	X	66863122	66863122	+	Silent	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:66863122T>G	uc004dwu.1	+	2	2756	c.1641T>G	c.(1639-1641)GTT>GTG	p.V547V	AR_uc011mpd.1_Silent_p.V547V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.V547V|AR_uc004dwv.1_Silent_p.V15V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	546	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGGACCATGTTTTGCCCATTG	0.473			NA							Androgen_Insensitivity_Syndrome				12	67					0	0	0.020292	0	0
COL4A5	1287	broad.mit.edu	37	X	107840675	107840675	+	Silent	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:107840675T>G	uc004enz.1	+	24	1858	c.1656T>G	c.(1654-1656)ACT>ACG	p.T552T	COL4A5_uc011mso.1_Silent_p.T552T|COL4A5_uc004eob.1_Silent_p.T160T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	552	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATATCCTCACTTTTCCAGGAA	0.488			NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				17	52					0	0	0.00499	0	0
TFDP3	51270	broad.mit.edu	37	X	132351956	132351956	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:132351956A>T	uc004exb.1	-	1	421	c.332T>A	c.(331-333)CTG>CAG	p.L111Q		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	111	Potential.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AAGACGGCACAGGCCCATGCC	0.592			NA											63	33					0	0	0.01441	0	0
GPC3	2719	broad.mit.edu	37	X	133087112	133087112	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:133087112T>C	uc004exe.1	-	2	492	c.302A>G	c.(301-303)AAG>AGG	p.K101R	GPC3_uc010nrn.1_Missense_Mutation_p.K101R|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	101						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AATTAAGAACTTGAGCTCCAT	0.433			NA	T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				23	111					0	0	0.014323	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135758848	135758848	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:135758848T>C	uc004fab.2	-	18	2342	c.1880A>G	c.(1879-1881)AAG>AGG	p.K627R	ARHGEF6_uc011mwd.1_Missense_Mutation_p.K500R|ARHGEF6_uc011mwe.1_Missense_Mutation_p.K473R	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	627					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAGAAATTTCTTCATCGTTTT	0.338			NA											10	33					0	0	0.010729	0	0
ATP11C	286410	broad.mit.edu	37	X	138857035	138857035	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:138857035T>G	uc004faz.2	-	19	2138	c.2039A>C	c.(2038-2040)AAG>ACG	p.K680T	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.K680T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	680	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCCATCTTGTCCCCAGT	0.483			NA											10	59					0	0	0.006214	0	0
CNGA2	1260	broad.mit.edu	37	X	150911915	150911915	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:150911915G>A	uc004fey.1	+	7	1164	c.940G>A	c.(940-942)GAC>AAC	p.D314N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	314	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AAACATCACTGACCCTGAGTA	0.493			NA											19	105					0	0	0.007413	0	0
MRPL37	51253	broad.mit.edu	37	1	54666245	54666246	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:54666245_54666246insT	uc001cxa.3	+	1	406_407	c.329_330insT	c.(328-330)CGTfs	p.R110fs	CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_Frame_Shift_Ins_p.V80fs|MRPL37_uc001cxb.1_Frame_Shift_Ins_p.R110fs|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	110					translation	mitochondrial ribosome	structural constituent of ribosome				0						TTTCACCACCGTTGCCGCCTTC	0.396			NA											17	45	---	---	---	---	NA	NA	NA	NA	NA
CUBN	8029	broad.mit.edu	37	10	17164803	17164803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:17164803delC	uc001ioo.2	-	6	636	c.584delG	c.(583-585)GGAfs	p.G195fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	195	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGTAACTTCCCATTGTATT	0.373			NA											10	41	---	---	---	---	NA	NA	NA	NA	NA
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:108788635_108788637delTGA	uc001pkm.2	+	17	2405_2407	c.2340_2342delTGA	c.(2338-2343)AGTGAT>AGT	p.D788del	DDX10_uc001pkl.1_In_Frame_Del_p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.31			NA	T	NUP98	AML*								8	106	---	---	---	---	NA	NA	NA	NA	NA
PACS2	23241	broad.mit.edu	37	14	105814832	105814840	+	In_Frame_Del	DEL	TGTGCAGCC	TGTGCAGCC	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	TGTGCAGCC	TGTGCAGCC	-	-	TGTGCAGCC	TGTGCAGCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:105814832_105814840delTGTGCAGCC	uc001yqt.2	+	2	297_305	c.122_130delTGTGCAGCC	c.(121-132)TTGTGCAGCCTG>TTG	p.41_44LCSL>L	PACS2_uc001yqs.2_5'UTR|PACS2_uc001yqv.2_In_Frame_Del_p.41_44LCSL>L|PACS2_uc001yqu.2_In_Frame_Del_p.41_44LCSL>L	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	41_44					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCTCACAGGTTGTGCAGCCTGACTCTGAA	0.646			NA											10	78	---	---	---	---	NA	NA	NA	NA	NA
EPN2	22905	broad.mit.edu	37	17	19216480	19216480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:19216480delC	uc002gvd.3	+	7	1483	c.1035delC	c.(1033-1035)GGCfs	p.G345fs	EPN2_uc010cql.1_Frame_Shift_Del_p.G54fs|EPN2_uc002gve.3_Frame_Shift_Del_p.G288fs|EPN2_uc002gvf.3_Frame_Shift_Del_p.G60fs|EPN2_uc010vyo.1_Frame_Shift_Del_p.G53fs|EPN2_uc002gvg.1_Frame_Shift_Del_p.G288fs|EPN2_uc010vyp.1_Frame_Shift_Del_p.G281fs|EPN2_uc010vyq.1_Frame_Shift_Del_p.G282fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.G345fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.G8fs	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	345					endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCTCGGGCCCCGCGGCCC	0.602			NA											37	99	---	---	---	---	NA	NA	NA	NA	NA
NFIC	4782	broad.mit.edu	37	19	3434378	3434382	+	Frame_Shift_Del	DEL	GCCCA	GCCCA	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	GCCCA	GCCCA	-	-	GCCCA	GCCCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:3434378_3434382delGCCCA	uc010xhi.1	+	5	875_879	c.813_817delGCCCA	c.(811-819)CTGCCCAGCfs	p.L271fs	NFIC_uc002lxo.2_Frame_Shift_Del_p.L262fs|NFIC_uc010xhh.1_Frame_Shift_Del_p.L262fs|NFIC_uc002lxp.2_Frame_Shift_Del_p.L271fs|NFIC_uc010xhj.1_Frame_Shift_Del_p.L271fs|NFIC_uc002lxq.1_Frame_Shift_Del_p.L223fs	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	271_273					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GAAGAACGCTGCCCAGCACCTCCTC	0.615			NA											22	27	---	---	---	---	NA	NA	NA	NA	NA
LRRC3B	116135	broad.mit.edu	37	3	26751187	26751187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:26751187delA	uc003cdp.2	+	2	613	c.24delA	c.(22-24)TTAfs	p.L8fs	LRRC3B_uc003cdq.2_Frame_Shift_Del_p.L8fs	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	8						integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						ACCTGTGGTTAACCCGTTCCC	0.473			NA											13	187	---	---	---	---	NA	NA	NA	NA	NA
FSCN3	29999	broad.mit.edu	37	7	127235473	127235473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:127235473delG	uc003vmd.1	+	2	476	c.257delG	c.(256-258)CGCfs	p.R86fs	FSCN3_uc003vmc.1_Frame_Shift_Del_p.R41fs|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Frame_Shift_Del_p.R86fs	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	86						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						TGTTATGGCCGCCCAAGGACC	0.557			NA											22	30	---	---	---	---	NA	NA	NA	NA	NA
