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
KIAA1751	85452	broad.mit.edu	37	1	1895210	1895210	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:1895210G>T	uc001aim.1	-	14	1828	c.1672C>A	c.(1672-1674)CTC>ATC	p.L558I	KIAA1751_uc009vkz.1_Missense_Mutation_p.L558I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	558										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAGTCCCGGAGGTGCTCCTCC	0.532			NA											4	30					1.23904e-05	1.67149e-05	0.000602	1	0
KIAA1751	85452	broad.mit.edu	37	1	1903427	1903427	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:1903427C>T	uc001aim.1	-	9	1036	c.880G>A	c.(880-882)GCG>ACG	p.A294T	KIAA1751_uc009vkz.1_Missense_Mutation_p.A294T	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	294										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACCCGGTTCGCGGAGATGCTG	0.682			NA											7	33					0	0	0.001984	0	0
CA6	765	broad.mit.edu	37	1	9034716	9034716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:9034716C>T	uc001apm.2	+	8	904	c.880C>T	c.(880-882)CAT>TAT	p.H294Y	CA6_uc009vmn.2_Missense_Mutation_p.H234Y	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	294					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTACCTACATAAGATTGA	0.378			NA											4	20					0	0	0.009096	0	0
C1orf127	148345	broad.mit.edu	37	1	11008728	11008728	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:11008728C>A	uc010oao.1	-	8	1022	c.1017G>T	c.(1015-1017)GAG>GAT	p.E339D	C1orf127_uc001arr.1_Missense_Mutation_p.E321D|C1orf127_uc001ars.1_Missense_Mutation_p.E313D	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	339										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGACACCCTCTACAGGCT	0.677			NA											7	41					8.12818e-05	0.000102047	0.001984	1	0
PRAMEF22	653606	broad.mit.edu	37	1	13036621	13036621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:13036621C>A	uc009vnq.1	+	2	693	c.693C>A	c.(691-693)AGC>AGA	p.S231R	PRAMEF5_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	PRAME family member 22	231											0						GTTACCTGAGCCAGATGAGGA	0.453			NA											23	175					7.88262e-20	1.53199e-19	0.00333	1	0
EPHB2	2048	broad.mit.edu	37	1	23111389	23111389	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:23111389C>T	uc009vqj.1	+	3	776	c.631C>T	c.(631-633)CTG>TTG	p.L211L	EPHB2_uc001bge.2_Silent_p.L211L|EPHB2_uc001bgf.2_Silent_p.L211L|EPHB2_uc010odu.1_Silent_p.L211L	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	211	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAGGAAACCCTGTCGGGGGC	0.612			NA							Hereditary_Prostate_Cancer				6	29					0	0	0.001168	0	0
EPHA10	284656	broad.mit.edu	37	1	38230655	38230655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38230655C>T	uc009vvi.2	-	1	170	c.84G>A	c.(82-84)TGG>TGA	p.W28*	EPHA10_uc001cbw.3_Nonsense_Mutation_p.W28*	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	28						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCAGGCCGCCAGGGTCCCA	0.657			NA											5	13					0	0	0.000602	0	0
INPP5B	3633	broad.mit.edu	37	1	38352595	38352595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38352595C>A	uc001ccg.1	-	12	1190	c.1096G>T	c.(1096-1098)GCC>TCC	p.A366S	INPP5B_uc009vvk.1_Missense_Mutation_p.A307S|INPP5B_uc001ccf.1_Missense_Mutation_p.A202S|INPP5B_uc010oij.1_RNA	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGTCTCGGCTTCCACTTCT	0.483			NA											7	40					8.12818e-05	0.000102047	0.001984	1	0
PPIE	10450	broad.mit.edu	37	1	40207081	40207081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:40207081G>T	uc001cds.1	+	3	217	c.174G>T	c.(172-174)GAG>GAT	p.E58D	PPIE_uc001cdt.1_Translation_Start_Site|PPIE_uc010oiy.1_Translation_Start_Site|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.E58D|PPIE_uc001cdw.2_Missense_Mutation_p.E58D|PPIE_uc001cdx.1_5'Flank	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	58	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGGCAGAGGTGAGAGTCT	0.388			NA											12	57					4.36969e-10	7.20947e-10	0.001855	1	0
DIO1	1733	broad.mit.edu	37	1	54360012	54360012	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:54360012C>A	uc010onx.1	+	1	152	c.129C>A	c.(127-129)GCC>GCA	p.A43A	DIO1_uc010onw.1_Silent_p.A43A|DIO1_uc009vzl.2_Silent_p.A43A|DIO1_uc001cwb.2_Silent_p.A43A|DIO1_uc010ony.1_Silent_p.A43A|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	43					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						ACATCCTGGCCATGGGCGAGA	0.522			NA											25	88					6.32553e-13	1.14225e-12	0.004656	1	0
USP1	7398	broad.mit.edu	37	1	62916107	62916107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:62916107A>T	uc001daj.1	+	9	2141	c.1813A>T	c.(1813-1815)AGT>TGT	p.S605C	USP1_uc001dak.1_Missense_Mutation_p.S605C|USP1_uc001dal.1_Missense_Mutation_p.S605C	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	605					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGACCTTAACAGTTTAGAACT	0.398	Ovarian(122;1846 2315 3982 19504)		NA											9	37					0	0	0.004482	0	0
C1orf173	127254	broad.mit.edu	37	1	75065539	75065539	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:75065539T>G	uc001dgg.2	-	11	1785	c.1566A>C	c.(1564-1566)CAA>CAC	p.Q522H	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q316H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	522	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TTCCATTCATTTGAACATCAG	0.388			NA											20	118					0	0	0.008871	0	0
USP33	23032	broad.mit.edu	37	1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:78180383T>C	uc001dht.2	-	20	2571	c.2224A>G	c.(2224-2226)ATT>GTT	p.I742V	USP33_uc001dhs.2_Missense_Mutation_p.I463V|USP33_uc001dhu.2_Missense_Mutation_p.I711V|USP33_uc001dhv.2_Missense_Mutation_p.I547V|USP33_uc001dhw.2_Missense_Mutation_p.I734V	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	742	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TGTCGAGAAATATAAAACTGA	0.373	Melanoma(152;72 1870 11110 26780 42647)		NA											21	47					0	0	0.012319	0	0
CLCA2	9635	broad.mit.edu	37	1	86919061	86919061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:86919061A>T	uc001dlr.3	+	13	2327	c.2165A>T	c.(2164-2166)CAG>CTG	p.Q722L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	722	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGTAATATTCAGATGAATGCT	0.413	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)		NA											7	45					0	0	0.00308	0	0
RPAP2	79871	broad.mit.edu	37	1	92789427	92789427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:92789427G>A	uc001dot.2	+	8	1059	c.950G>A	c.(949-951)AGT>AAT	p.S317N	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	317						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATTCTGAAAGTGAATACAGT	0.343			NA											15	45					0	0	0.00245	0	0
PTBP2	58155	broad.mit.edu	37	1	97243402	97243402	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:97243402A>T	uc001drq.2	+	7	854	c.608A>T	c.(607-609)AAG>ATG	p.K203M	PTBP2_uc001drn.2_Missense_Mutation_p.K203M|PTBP2_uc001dro.2_Missense_Mutation_p.K203M|PTBP2_uc010otz.1_Missense_Mutation_p.K214M|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.K151M|PTBP2_uc001drr.2_Missense_Mutation_p.K203M|PTBP2_uc010oua.1_Missense_Mutation_p.K211M|PTBP2_uc001dru.2_RNA	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	203	RRM 2.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATATTTTCTAAGTTTGGTGCT	0.269			NA											5	39					0	0	0.001168	0	0
COL11A1	1301	broad.mit.edu	37	1	103354185	103354185	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:103354185C>A	uc001dul.2	-	62	4874	c.4556G>T	c.(4555-4557)GGA>GTA	p.G1519V	COL11A1_uc001duk.2_Missense_Mutation_p.G715V|COL11A1_uc001dum.2_Missense_Mutation_p.G1531V|COL11A1_uc001dun.2_Missense_Mutation_p.G1480V|COL11A1_uc009weh.2_Missense_Mutation_p.G1403V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1519	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)		GCCAGCGGGTCCCTGTTAGAA	0.413			NA											11	20					0.000219431	0.000269587	0.00245	1	0
FAM40A	85369	broad.mit.edu	37	1	110581882	110581882	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:110581882G>T	uc001dza.1	+	4	433	c.414G>T	c.(412-414)AGG>AGT	p.R138S	FAM40A_uc001dyz.1_Missense_Mutation_p.R43S|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	138						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		TCACTGCCAGGGAGAAGAGAC	0.567			NA											5	26					5.9392e-07	8.56639e-07	0.001168	1	0
VANGL1	81839	broad.mit.edu	37	1	116226686	116226686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:116226686G>T	uc001efv.1	+	6	1339	c.1068G>T	c.(1066-1068)AAG>AAT	p.K356N	VANGL1_uc009wgy.1_Missense_Mutation_p.K354N	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	356	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGTAAAGAAGCGGAAAGCAA	0.413			NA											4	34					0.00909568	0.00988598	0.009096	1	0
GJA5	2702	broad.mit.edu	37	1	147230977	147230977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:147230977C>A	uc001eps.1	-	2	511	c.370G>T	c.(370-372)GAG>TAG	p.E124*	GJA5_uc001ept.1_Nonsense_Mutation_p.E124*	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	124	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACCGGGTACTCGTAAGAGCCA	0.607			NA											12	60					0.000219431	0.000269587	0.00245	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338815	151338815	+	Missense_Mutation	SNP	T	T	A	rs138557053		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:151338815T>A	uc001exx.2	-	7	826	c.779A>T	c.(778-780)GAC>GTC	p.D260V	SELENBP1_uc010pcy.1_Missense_Mutation_p.D302V|SELENBP1_uc001exy.2_Missense_Mutation_p.D157V|SELENBP1_uc001exz.2_Missense_Mutation_p.D157V|SELENBP1_uc010pcz.1_Missense_Mutation_p.D198V|SELENBP1_uc009wms.2_Missense_Mutation_p.D96V|SELENBP1_uc009wmt.2_Missense_Mutation_p.D157V|SELENBP1_uc001eya.2_Missense_Mutation_p.D196V|SELENBP1_uc009wmu.2_Missense_Mutation_p.D157V	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	260				DAA -> SAT (in Ref. 1; AAB02395).	protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TTGGGCAGCGTCTGGGTTGTG	0.562			NA											20	102					0	0	0.014323	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057599	152057599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152057599G>T	uc001ezo.1	-	3	2624	c.2559C>A	c.(2557-2559)AGC>AGA	p.S853R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	853							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGATGCTTGGCTGTAGTTGA	0.498			NA											18	80					6.49762e-13	1.17025e-12	0.006122	1	0
FLG	2312	broad.mit.edu	37	1	152280768	152280768	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152280768T>C	uc001ezu.1	-	3	6630	c.6594A>G	c.(6592-6594)CAA>CAG	p.Q2198Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCTCCTGATTGTTCCTTGT	0.542			NA							Ichthyosis				14	463					0	0	0.003163	0	0
FLG2	388698	broad.mit.edu	37	1	152326682	152326682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152326682G>T	uc001ezw.3	-	3	3653	c.3580C>A	c.(3580-3582)CAA>AAA	p.Q1194K	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1194	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATATATGTTGTCCAGAACTA	0.483			NA											19	83					8.28177e-16	1.56535e-15	0.007413	1	0
RPS27	6232	broad.mit.edu	37	1	153963616	153963616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:153963616C>T	uc001fdv.2	+	2	66	c.32C>T	c.(31-33)TCT>TTT	p.S11F		NM_001030	NP_001021	P42677	RS27_HUMAN	ribosomal protein S27	11					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCATCCCTCTCCAGAAGAG	0.498			NA											6	13					0	0	0.001168	0	0
NES	10763	broad.mit.edu	37	1	156640315	156640315	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:156640315C>A	uc001fpq.2	-	4	3798	c.3665G>T	c.(3664-3666)AGC>ATC	p.S1222I		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1222	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACGTTGGGCTGGGGGAGAC	0.647			NA											19	83					2.4624e-09	3.88562e-09	0.008871	1	0
FCRL1	115350	broad.mit.edu	37	1	157771743	157771743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:157771743C>A	uc001frg.2	-	5	961	c.848G>T	c.(847-849)GGG>GTG	p.G283V	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G283V|FCRL1_uc001fri.2_Missense_Mutation_p.G283V|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	283	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCGCTGGGCCCCCAGGCCATT	0.572	GBM(54;482 1003 11223 30131 35730)		NA											15	55					1.15088e-07	1.72506e-07	0.004007	1	0
OR6K3	391114	broad.mit.edu	37	1	158687441	158687441	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:158687441G>A	uc010pip.1	-	1	513	c.513C>T	c.(511-513)ATC>ATT	p.I171I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	171	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CGGGAAGCAGGATAAGGAAAC	0.522			NA											11	68					0	0	0.010729	0	0
OR6K3	391114	broad.mit.edu	37	1	158687910	158687910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:158687910C>A	uc010pip.1	-	1	44	c.44G>T	c.(43-45)AGA>ATA	p.R15I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTCCATATTTCTAGTAGAGCT	0.398			NA											6	18					2.0095e-06	2.82727e-06	0.001984	1	0
ITLN1	55600	broad.mit.edu	37	1	160850418	160850418	+	Silent	SNP	G	G	A	rs142057123		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:160850418G>A	uc001fxc.2	-	6	761	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	215	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTTTCTGGGCGTCGCCAAAAT	0.438			NA											11	131					0	0	0.013537	0	0
FCER1G	2207	broad.mit.edu	37	1	161188716	161188716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:161188716G>T	uc001fyz.1	+	5	269	c.244G>T	c.(244-246)GAG>TAG	p.E82*	FCER1G_uc001fza.1_Nonsense_Mutation_p.E83*	NM_004106	NP_004097	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor	82	ITAM.|Cytoplasmic (Potential).				platelet activation	integral to plasma membrane					0	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TCTGAAGCATGAGAAACCACC	0.532			NA											7	43					0.00307968	0.00347347	0.00308	1	0
ILDR2	387597	broad.mit.edu	37	1	166904624	166904624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:166904624C>T	uc001gdx.1	-	6	850	c.794G>A	c.(793-795)GGA>GAA	p.G265E		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	265	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						GGGGGCTCCTCCCAAAGGGAC	0.597			NA											9	56					0	0	0.006214	0	0
DUSP27	92235	broad.mit.edu	37	1	167088547	167088547	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167088547G>C	uc001geb.1	+	4	499	c.499G>C	c.(499-501)GCG>CCG	p.A167P		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	167					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TCTGAATGCTGCGCATGGCAC	0.562			NA											8	27					0	0	0.008291	0	0
DUSP27	92235	broad.mit.edu	37	1	167095924	167095924	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167095924A>T	uc001geb.1	+	5	1556	c.1556A>T	c.(1555-1557)GAT>GTT	p.D519V		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	519					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CGGGAGGATGATGAGGACAGC	0.567			NA											14	36					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740128	176740128	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176740128T>A	uc001gkz.2	+	17	5691	c.4527T>A	c.(4525-4527)CTT>CTA	p.L1509L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1509	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGACATGTCTTGAAGATGGTC	0.483			NA											21	57					0	0	0.00333	0	0
ASTN1	460	broad.mit.edu	37	1	176913034	176913034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176913034G>T	uc001glc.2	-	14	2582	c.2370C>A	c.(2368-2370)TTC>TTA	p.F790L	ASTN1_uc001glb.1_Missense_Mutation_p.F790L|ASTN1_uc001gld.1_Missense_Mutation_p.F790L|ASTN1_uc009wwx.1_Missense_Mutation_p.F790L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	798					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CACCAGTCAGGAAGTCAGGGT	0.498			NA											7	24					0.00198382	0.00225226	0.001984	1	0
ASTN1	460	broad.mit.edu	37	1	176993800	176993800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176993800C>T	uc001glc.2	-	6	1401	c.1189G>A	c.(1189-1191)GGC>AGC	p.G397S	ASTN1_uc001glb.1_Missense_Mutation_p.G397S|ASTN1_uc001gld.1_Missense_Mutation_p.G397S|ASTN1_uc009wwx.1_Missense_Mutation_p.G397S|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	397	Helical; (Potential).				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CACACGAGGCCAATCACACAG	0.522			NA											6	28					0	0	0.001168	0	0
RASAL2	9462	broad.mit.edu	37	1	178427213	178427213	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:178427213T>C	uc001glr.2	+	12	2488	c.2363T>C	c.(2362-2364)CTC>CCC	p.L788P	RASAL2_uc001glq.2_Missense_Mutation_p.L929P|RASAL2_uc009wxc.2_Missense_Mutation_p.L302P	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	788					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						GTCTATCACCTCAATAACCCA	0.522			NA											3	69					0	0	0.004672	0	0
CACNA1E	777	broad.mit.edu	37	1	181620521	181620521	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:181620521C>T	uc001gow.2	+	7	1164	c.999C>T	c.(997-999)CCC>CCT	p.P333P	CACNA1E_uc009wxr.2_Silent_p.P240P|CACNA1E_uc009wxs.2_Silent_p.P240P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	333	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACTTCATCCCCCTCATCATCA	0.433			NA											10	66					0	0	0.008291	0	0
CFH	3075	broad.mit.edu	37	1	196695642	196695642	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:196695642G>T	uc001gtj.3	+	13	2156	c.1916G>T	c.(1915-1917)GGG>GTG	p.G639V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	639	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CTCCTCAATGGGAATGTTAAG	0.318			NA											5	13					2.7689e-08	4.2809e-08	0.001984	1	0
CAMSAP1L1	23271	broad.mit.edu	37	1	200818117	200818117	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:200818117G>T	uc001gvl.2	+	12	2523	c.2253G>T	c.(2251-2253)CGG>CGT	p.R751R	CAMSAP1L1_uc001gvk.2_Silent_p.R740R|CAMSAP1L1_uc001gvm.2_Silent_p.R724R	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	751						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CACAGGGACGGGACACTACCC	0.458			NA											7	40					0.000673444	0.000786638	0.008291	1	0
CACNA1S	779	broad.mit.edu	37	1	201027603	201027603	+	Missense_Mutation	SNP	G	G	A	rs144935943		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:201027603G>A	uc001gvv.2	-	28	3769	c.3542C>T	c.(3541-3543)CCC>CTC	p.P1181L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1181	IV.|Helical; Name=S3 of repeat IV; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CACATTCCAGGGGTCTCCAAA	0.547			NA											6	22					0	0	0.001984	0	0
KCTD3	51133	broad.mit.edu	37	1	215775296	215775296	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:215775296G>C	uc001hks.2	+	11	1315	c.1021G>C	c.(1021-1023)GAT>CAT	p.D341H	KCTD3_uc001hkt.2_Missense_Mutation_p.D341H|KCTD3_uc010pub.1_Missense_Mutation_p.D239H|KCTD3_uc009xdn.2_Missense_Mutation_p.D93H	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	341	WD 3.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATTACATAGGTAAGTGTTC	0.313			NA											8	18					0	0	0.00308	0	0
USH2A	7399	broad.mit.edu	37	1	216420207	216420207	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:216420207G>T	uc001hku.1	-	13	2916	c.2529C>A	c.(2527-2529)CTC>CTA	p.L843L	USH2A_uc001hkv.2_Silent_p.L843L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	843	Extracellular (Potential).|Laminin EGF-like 6.				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)		AAGGCAGACAGAGGAAAGAAT	0.443			NA								HNSCC(13;0.011)			25	96					6.32553e-13	1.14225e-12	0.004656	1	0
BPNT1	10380	broad.mit.edu	37	1	220232313	220232314	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220232313_220232314CC>AA	uc001hma.2	-	9	971_972	c.799_800GG>TT	c.(799-801)GGG>TTG	p.G267L	BPNT1_uc010pug.1_Missense_Mutation_p.G212L|BPNT1_uc010puh.1_Missense_Mutation_p.G231L|BPNT1_uc001hmb.3_Missense_Mutation_p.G282L	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	267					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		AAGAACATTCCCATGGATATCG	0.391			NA											6	72					0	0	0.004672	0	0
MOSC1	64757	broad.mit.edu	37	1	220986690	220986690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220986690G>T	uc001hms.2	+	7	1192	c.944G>T	c.(943-945)GGG>GTG	p.G315V	MOSC1_uc001hmt.2_Missense_Mutation_p.G332V	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	315	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		CCACTCTTTGGGCAGTATTTT	0.473			NA											37	88					1.60099e-16	3.04276e-16	0.004878	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227300084	227300084	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:227300084T>C	uc001hqr.2	-	14	2873	c.1930A>G	c.(1930-1932)AAA>GAA	p.K644E	CDC42BPA_uc001hqs.2_Missense_Mutation_p.K563E|CDC42BPA_uc009xes.2_Missense_Mutation_p.K644E|CDC42BPA_uc010pvs.1_Missense_Mutation_p.K644E	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	644	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCCTGTCTTTAGATGCTTCA	0.363			NA											20	77					0	0	0.00333	0	0
OBSCN	84033	broad.mit.edu	37	1	228431091	228431091	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:228431091A>G	uc009xez.1	+	10	3181	c.3137A>G	c.(3136-3138)AAG>AGG	p.K1046R	OBSCN_uc001hsn.2_Missense_Mutation_p.K1046R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1046	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGGCAGGCAAGACAGATGCC	0.567			NA											6	30					0	0	0.001168	0	0
NID1	4811	broad.mit.edu	37	1	236201536	236201536	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236201536C>A	uc001hxo.2	-	5	1255	c.1153G>T	c.(1153-1155)GAT>TAT	p.D385Y	NID1_uc009xgd.2_Missense_Mutation_p.D385Y	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	385					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGGCGGGAATCCGTGTTATAG	0.552			NA											15	71					3.52763e-06	4.88332e-06	0.00499	1	0
ACTN2	88	broad.mit.edu	37	1	236924451	236924451	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236924451T>C	uc001hyf.2	+	20	2708	c.2504T>C	c.(2503-2505)TTC>TCC	p.F835S	ACTN2_uc001hyg.2_Missense_Mutation_p.F627S|ACTN2_uc009xgi.1_Missense_Mutation_p.F835S|ACTN2_uc010pxu.1_Missense_Mutation_p.F524S|ACTN2_uc001hyh.2_Missense_Mutation_p.F523S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	835					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCGCCTCCTTCCGGATCCTG	0.507			NA											9	47					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237777909	237777909	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237777909C>A	uc001hyl.1	+	37	5601	c.5481C>A	c.(5479-5481)ACC>ACA	p.T1827T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1827	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)			TTTTCTATACCCTGCTGATCA	0.493			NA											19	104					2.4624e-09	3.88562e-09	0.008871	1	0
RYR2	6262	broad.mit.edu	37	1	237995900	237995900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237995900C>A	uc001hyl.1	+	105	14977	c.14857C>A	c.(14857-14859)CCA>ACA	p.P4953T	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4953					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)			GGAATTTTTCCCAGCAGGGGA	0.418			NA											7	27					0.00198382	0.00225226	0.001984	1	0
OR2W5	441932	broad.mit.edu	37	1	247655350	247655350	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:247655350G>C	uc001icz.1	+	1	921	c.921G>C	c.(919-921)GTG>GTC	p.V307V		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTGGGGTGGGAGAAAGGG	0.502			NA											10	57					0	0	0.006214	0	0
OR2L2	26246	broad.mit.edu	37	1	248202461	248202461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248202461G>T	uc001idw.2	+	1	988	c.892G>T	c.(892-894)GGG>TGG	p.G298W	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGAGGTGATGGGGGCCCTGAC	0.458			NA											12	69					5.16669e-11	8.86454e-11	0.010729	1	0
OR2T12	127064	broad.mit.edu	37	1	248458764	248458764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248458764G>T	uc010pzj.1	-	1	117	c.117C>A	c.(115-117)AGC>AGA	p.S39R		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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;0.0201)			TGAGGGCATTGCTAAACAGGG	0.512			NA											17	73					2.35188e-11	4.0861e-11	0.006122	1	0
OR2T4	127074	broad.mit.edu	37	1	248525220	248525220	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248525220T>G	uc001ieh.1	+	1	338	c.338T>G	c.(337-339)ATG>AGG	p.M113R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	113	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(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)			GTGCCCAAGATGCTCCTGGAC	0.488			NA											6	234					0	0	0.00308	0	0
PFKFB3	5209	broad.mit.edu	37	10	6264857	6264857	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:6264857A>C	uc001ije.2	+	11	1507	c.1123A>C	c.(1123-1125)ATG>CTG	p.M375L	PFKFB3_uc001ijd.2_Missense_Mutation_p.M355L|PFKFB3_uc009xii.2_Intron|PFKFB3_uc010qaw.1_Missense_Mutation_p.M389L|PFKFB3_uc001ijf.2_Missense_Mutation_p.M375L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	375	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						GCCAGTGATCATGGAGCTGGA	0.652			NA											3	18					0	0	0.009096	0	0
PTF1A	256297	broad.mit.edu	37	10	23482733	23482733	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:23482733C>A	uc001irp.2	+	2	885	c.885C>A	c.(883-885)ATC>ATA	p.I295I		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	295					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						AAAATATTATCCGAACAGCCA	0.488			NA											24	130					1.66031e-10	2.78607e-10	0.003954	1	0
SVIL	6840	broad.mit.edu	37	10	29840143	29840143	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:29840143T>A	uc001iut.1	-	6	963	c.210A>T	c.(208-210)CAA>CAT	p.Q70H	SVIL_uc001iuu.1_Missense_Mutation_p.Q70H|SVIL_uc009xld.1_Missense_Mutation_p.Q70H	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	70	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGGATCGAGTTTGCTTTTCTA	0.473			NA											10	42					0	0	0.008291	0	0
Unknown	0	broad.mit.edu	37	10	49218363	49218363	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:49218363G>T	uc001jgd.2	-	8	1935	c.1776C>A	c.(1774-1776)GCC>GCA	p.A592A	uc001jge.1_5'Flank					RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975;												NA						CCTTGCGGCAGGCCAGATGGA	0.652			NA											10	179					2.27111e-07	3.35306e-07	0.013537	1	0
OGDHL	55753	broad.mit.edu	37	10	50946118	50946118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:50946118C>A	uc001jie.2	-	19	2534	c.2392G>T	c.(2392-2394)GCA>TCA	p.A798S	OGDHL_uc009xog.2_Missense_Mutation_p.A825S|OGDHL_uc010qgt.1_Missense_Mutation_p.A741S|OGDHL_uc010qgu.1_Missense_Mutation_p.A589S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	798					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TTGGTGAATGCCTGTGGGGAC	0.622			NA											10	79					0.000442599	0.000527744	0.006214	1	0
PCDH15	65217	broad.mit.edu	37	10	55581994	55581994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:55581994G>A	uc001jju.1	-	33	5887	c.5492C>T	c.(5491-5493)CCT>CTT	p.P1831L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1828L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1791L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1762L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1838L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1833L|PCDH15_uc010qia.1_Missense_Mutation_p.P1811L|PCDH15_uc010qib.1_Missense_Mutation_p.P1808L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1831	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGCTgaaggaggtggagg	0.289			NA								HNSCC(58;0.16)			4	41					0	0	0.009096	0	0
RGR	5995	broad.mit.edu	37	10	86004867	86004867	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:86004867G>T	uc001kdc.1	+	1	59	c.21G>T	c.(19-21)CTG>CTT	p.L7L	RGR_uc001kdb.1_Silent_p.L7L|RGR_uc001kdd.1_Silent_p.L7L|RGR_uc001kde.1_Silent_p.L7L	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	7	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						CCAGTGCCCTGCCCACTGGCT	0.657	NSCLC(15;204 545 5889 6385 32445)		NA											5	33					1.6384e-10	2.76279e-10	0.001984	1	0
WAPAL	23063	broad.mit.edu	37	10	88203071	88203071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:88203071G>T	uc001kdo.2	-	17	3814	c.3372C>A	c.(3370-3372)TAC>TAA	p.Y1124*	WAPAL_uc009xsv.2_Nonsense_Mutation_p.Y383*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.Y1161*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.Y1118*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1124	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						GTAGTGCTGTGTAGGAGGCCA	0.403			NA											5	28					5.9392e-07	8.56639e-07	0.001168	1	0
SEC31B	25956	broad.mit.edu	37	10	102256062	102256062	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102256062C>A	uc001krc.1	-	18	2365	c.2263G>T	c.(2263-2265)GGC>TGC	p.G755C	SEC31B_uc010qpo.1_Missense_Mutation_p.G754C|SEC31B_uc001krd.1_Missense_Mutation_p.G292C|SEC31B_uc001krf.1_Missense_Mutation_p.G292C|SEC31B_uc001kre.1_Missense_Mutation_p.G292C|SEC31B_uc001krg.1_Missense_Mutation_p.G324C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	755					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCCAGGCTGCCCTGGGCTGCC	0.542			NA											5	45					1.23904e-05	1.67149e-05	0.000602	1	0
PAX2	5076	broad.mit.edu	37	10	102539287	102539287	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102539287A>T	uc001krk.3	+	4	993	c.443A>T	c.(442-444)CAC>CTC	p.H148L	PAX2_uc001krl.3_Missense_Mutation_p.H148L|PAX2_uc001krm.3_Missense_Mutation_p.H148L|PAX2_uc001kro.3_Missense_Mutation_p.H148L|PAX2_uc001krn.3_Missense_Mutation_p.H148L|PAX2_uc010qps.1_Missense_Mutation_p.H147L|PAX2_uc001krp.1_Missense_Mutation_p.H152L	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	148					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGCCTTTCCACCCAACGCCG	0.582			NA											5	7					0	0	0.001168	0	0
PAX2	5076	broad.mit.edu	37	10	102584444	102584444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102584444C>T	uc001krk.3	+	9	1578	c.1028C>T	c.(1027-1029)CCT>CTT	p.P343L	PAX2_uc001krl.3_Missense_Mutation_p.P320L|PAX2_uc001krm.3_Missense_Mutation_p.P343L|PAX2_uc001kro.3_Missense_Mutation_p.P320L|PAX2_uc001krn.3_Missense_Mutation_p.P320L|PAX2_uc010qps.1_Missense_Mutation_p.P319L|PAX2_uc001krp.1_Missense_Mutation_p.P316L	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	343					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTTACCCCCCTCACGTGCCC	0.612			NA											18	64					0	0	0.008871	0	0
PPRC1	23082	broad.mit.edu	37	10	103906707	103906707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:103906707C>T	uc001kum.2	+	9	3997	c.3958C>T	c.(3958-3960)CGA>TGA	p.R1320*	PPRC1_uc001kun.2_Nonsense_Mutation_p.R1200*|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTGGGCTCCCGATGGAATGT	0.602			NA											5	30					0	0	0.001168	0	0
CCDC147	159686	broad.mit.edu	37	10	106128258	106128258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:106128258G>T	uc001kyh.2	+	6	1004	c.870G>T	c.(868-870)CAG>CAT	p.Q290H		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	290	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAATGAACAGCACAGTTTGG	0.438			NA											7	24					1.26484e-09	2.04756e-09	0.00308	1	0
CPXM2	119587	broad.mit.edu	37	10	125639736	125639736	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:125639736C>G	uc001lhk.1	-	2	719	c.394G>C	c.(394-396)GTC>CTC	p.V132L	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	132					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCTCTCTGACATCTTCACGG	0.557			NA											18	72					0	0	0.007413	0	0
SYCE1	93426	broad.mit.edu	37	10	135368920	135368920	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:135368920G>T	uc001lno.2	-	12	958	c.853C>A	c.(853-855)CAT>AAT	p.H285N	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.H157N|SYCE1_uc009ybn.2_Missense_Mutation_p.H285N|SYCE1_uc001lnn.2_Missense_Mutation_p.H249N	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	285	Gln-rich.|Potential.				cell division	central element				ovary(1)	1		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCATTCCATGCTTTTCCAGC	0.393			NA											15	48					1.5739e-10	2.6671e-10	0.004007	1	0
LOC653544	653544	broad.mit.edu	37	10	135491024	135491024	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:135491024G>T	uc010qvi.1	+	1	746	c.635G>T	c.(634-636)GGA>GTA	p.G212V		NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN	double homeobox, 4-like	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGCACCCGGGACAGGGTGGC	0.721			NA											7	127					0.000157383	0.000195099	0.00308	1	0
IFITM2	10581	broad.mit.edu	37	11	308242	308242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:308242C>T	uc001lox.3	+	1	136	c.50C>T	c.(49-51)CCC>CTC	p.P17L		NM_006435	NP_006426	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	17	Extracellular (Potential).				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCCAGCCTCCCAACTACGAG	0.602			NA											12	107					0	0	0.010729	0	0
MUC6	4588	broad.mit.edu	37	11	1017315	1017315	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1017315G>C	uc001lsw.2	-	31	5537	c.5486C>G	c.(5485-5487)CCA>CGA	p.P1829R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1829	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGTGTGATGGGGTTGGATA	0.552			NA											47	660					0	0	0.01441	0	0
MUC5B	727897	broad.mit.edu	37	11	1268677	1268677	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1268677C>A	uc009ycr.1	+	50	12277	c.12151C>A	c.(12151-12153)CCT>ACT	p.P4051T	MUC5B_uc001ltb.2_Missense_Mutation_p.P3526T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3523	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGTCACCCCCTTCTCCAGG	0.677			NA											15	107					3.52763e-06	4.88332e-06	0.00499	1	0
MUC5B	727897	broad.mit.edu	37	11	1271630	1271630	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1271630T>A	uc009ycr.1	+	51	15065	c.14939T>A	c.(14938-14940)CTT>CAT	p.L4980H	MUC5B_uc001ltb.2_Missense_Mutation_p.L4510H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4507	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAACTGCCCTTCCAGCACTG	0.627			NA											23	168					0	0	0.012319	0	0
DUSP8	1850	broad.mit.edu	37	11	1580211	1580211	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1580211G>A	uc001lts.2	-	4	573	c.445C>T	c.(445-447)CTC>TTC	p.L149F		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	149					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCTGGGAGAGGCTCATGGGT	0.662			NA											4	24					0	0	0.009096	0	0
OR51S1	119692	broad.mit.edu	37	11	4870337	4870337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4870337C>A	uc010qyo.1	-	1	102	c.102G>T	c.(100-102)TGG>TGT	p.W34C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAATGTCCACCAGGAGGGTG	0.577			NA											22	54					2.37509e-13	4.33438e-13	0.010504	1	0
OR51T1	401665	broad.mit.edu	37	11	4903521	4903521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4903521C>A	uc010qyp.1	+	1	473	c.473C>A	c.(472-474)CCA>CAA	p.P158Q		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGTAACCCACTGAACTAT	0.498			NA											26	48					5.49717e-05	7.12251e-05	0.00333	1	0
HBB	3043	broad.mit.edu	37	11	5246840	5246840	+	Missense_Mutation	SNP	G	G	T	rs36020563	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5246840G>T	uc001mae.1	-	3	482	c.432C>A	c.(430-432)CAC>CAA	p.H144Q		NM_000518	NP_000509	P68871	HBB_HUMAN	beta globin	144		2,3-bisphosphoglycerate.	H -> R (in Abruzzo; O(2) affinity up).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up).|H -> D (in Rancho Mirage).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGTGATACTTGTGGGCCAGGG	0.488			NA							Sickle_Cell_Trait				14	74					0.000308642	0.000372536	0.003163	1	0
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5969347C>A	uc010qzt.1	+	1	771	c.771C>A	c.(769-771)ACC>ACA	p.T257T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527			NA											16	104					0.00074312	0.000865087	0.006122	1	0
RRP8	23378	broad.mit.edu	37	11	6622385	6622385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6622385C>T	uc001med.2	-	3	990	c.911G>A	c.(910-912)CGC>CAC	p.R304H	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	304					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						TCACCGCTGGCGAAGATCCCT	0.577			NA											3	24					0	0	0.009096	0	0
DCHS1	8642	broad.mit.edu	37	11	6653038	6653038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6653038C>A	uc001mem.1	-	7	3894	c.3484G>T	c.(3484-3486)GAA>TAA	p.E1162*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1162	Cadherin 11.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTCACTTCTCCTGGGAGT	0.592			NA											7	12					0.000157383	0.000195099	0.00308	1	0
OR10A2	341276	broad.mit.edu	37	11	6891597	6891597	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6891597C>G	uc001meu.1	+	1	612	c.612C>G	c.(610-612)TCC>TCG	p.S204S		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTTGTGTTCCTATACTCACA	0.483			NA											24	155					0	0	0.003954	0	0
NLRP14	338323	broad.mit.edu	37	11	7079531	7079531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:7079531C>A	uc001mfb.1	+	8	2806	c.2483C>A	c.(2482-2484)ACA>AAA	p.T828K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	828	LRR 4.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTGGTCTCACAGAGGCTGGC	0.453			NA											17	34					1.01871e-10	1.73484e-10	0.008871	1	0
C11orf16	56673	broad.mit.edu	37	11	8951044	8951044	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:8951044G>T	uc001mhb.3	-	3	328	c.204C>A	c.(202-204)GAC>GAA	p.D68E	C11orf16_uc001mhc.3_Missense_Mutation_p.D68E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	68										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCCATGCTGGGTCGGCAACGT	0.532			NA											5	19					1.024e-07	1.55521e-07	0.000602	1	0
SBF2	81846	broad.mit.edu	37	11	10011043	10011043	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:10011043C>A	uc001mib.2	-	13	1533	c.1395_splice	c.e13+1	p.N465_splice	SBF2_uc001mif.3_Splice_Site_p.N221_splice	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TACTTACTTACATTTTTGAAT	0.214			NA											14	25					2.32078e-09	3.69606e-09	0.003163	1	0
MYOD1	4654	broad.mit.edu	37	11	17741497	17741497	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:17741497C>T	uc001mni.2	+	1	388	c.168C>T	c.(166-168)CTC>CTT	p.L56L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	56					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						TGGGCGCGCTCCTGAAACCCG	0.687			NA											5	17					0	0	0.000602	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195341	18195341	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18195341C>A	uc001mnv.1	+	1	958	c.538C>A	c.(538-540)CCA>ACA	p.P180T		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	180	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AGATTTCATCCCAGTCGCGTG	0.522			NA											9	114					0.00448238	0.00501444	0.004482	1	0
IGSF22	283284	broad.mit.edu	37	11	18731050	18731050	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18731050G>T	uc009yht.2	-	18	3072	c.2882C>A	c.(2881-2883)ACA>AAA	p.T961K	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	860	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7						TCCTCCCACTGTGTAGCAGGT	0.567			NA											23	54					3.28513e-13	5.97928e-13	0.003954	1	0
NAV2	89797	broad.mit.edu	37	11	20066649	20066649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:20066649C>A	uc010rdm.1	+	15	3765	c.3404C>A	c.(3403-3405)ACA>AAA	p.T1135K	NAV2_uc001mpp.2_Missense_Mutation_p.T1048K|NAV2_uc001mpr.3_Missense_Mutation_p.T1112K|NAV2_uc001mpt.2_Missense_Mutation_p.T198K|NAV2_uc009yhx.2_Missense_Mutation_p.T198K|NAV2_uc009yhy.1_Missense_Mutation_p.T111K	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1135						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AGCTCTAGGACACCTACTGCC	0.602			NA											10	44					0.000442599	0.000527744	0.006214	1	0
C11orf41	25758	broad.mit.edu	37	11	33589742	33589742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:33589742G>A	uc001mup.3	+	8	3450	c.3326G>A	c.(3325-3327)CGG>CAG	p.R1109Q	C11orf41_uc001mun.1_Missense_Mutation_p.R1109Q	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1103						integral to membrane				ovary(2)	2						CGGTTTAAACGGGCCACCACC	0.587			NA											3	18					0	0	0.004672	0	0
FJX1	24147	broad.mit.edu	37	11	35640710	35640710	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:35640710C>T	uc001mwh.2	+	1	976	c.526C>T	c.(526-528)CGC>TGC	p.R176C		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	176						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGACGGCACCCGCGCCTGCGT	0.736	Melanoma(161;10 2587 27165 47356)		NA											3	7					0	0	0.001168	0	0
OR4C6	219432	broad.mit.edu	37	11	55432968	55432968	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55432968G>C	uc001nht.3	+	3	591	c.326G>C	c.(325-327)GGG>GCG	p.G109A	OR4C6_uc010rik.1_Missense_Mutation_p.G109A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GGTGGTGTGGGGATCATCCTC	0.547			NA											7	46					0	0	0.004482	0	0
OR5D18	219438	broad.mit.edu	37	11	55587841	55587842	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55587841_55587842CT>AA	uc010rin.1	+	1	736_737	c.736_737CT>AA	c.(736-738)CTG>AAG	p.L246K		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TGCCTCCCACCTGACTGCCATC	0.51			NA											6	55					0	0	0.004672	0	0
OR8H3	390152	broad.mit.edu	37	11	55890132	55890132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55890132C>A	uc001nii.1	+	1	284	c.284C>A	c.(283-285)ACG>AAG	p.T95K		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					ATTTCCTTCACGGGCTGCTTT	0.433			NA											20	291					1.01871e-10	1.73484e-10	0.008871	1	0
APLNR	187	broad.mit.edu	37	11	57003413	57003413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:57003413G>T	uc001njo.2	-	1	1515	c.1066C>A	c.(1066-1068)CCC>ACC	p.P356T	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	356	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						CCCATGTTGGGGCCGGGCCCC	0.627			NA											23	34					9.86323e-18	1.88497e-17	0.003954	1	0
OR5B21	219968	broad.mit.edu	37	11	58275275	58275275	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:58275275A>T	uc010rki.1	-	1	304	c.304T>A	c.(304-306)TTT>ATT	p.F102I		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACCCCACAAAGAAGAAGAAC	0.547			NA											7	13					0	0	0.001984	0	0
OR5A1	219982	broad.mit.edu	37	11	59210776	59210776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:59210776C>A	uc001nnx.1	+	1	135	c.135C>A	c.(133-135)AAC>AAA	p.N45K		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TGGCCTGGAACCTGGCCCTCA	0.498			NA											4	74					0.00024832	0.000303453	0.009096	1	0
MS4A5	64232	broad.mit.edu	37	11	60198297	60198297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:60198297C>A	uc001npo.2	+	2	268	c.182C>A	c.(181-183)ACC>AAC	p.T61N		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	61	Helical; (Potential).					integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2						GGAATTATGACCTTTTCTTTT	0.363			NA											28	95					1.26454e-06	1.79753e-06	0.005443	1	0
BSCL2	26580	broad.mit.edu	37	11	62462126	62462127	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:62462126_62462127GG>AA	uc001nuo.1	-	4	775_776	c.351_352CC>TT	c.(349-354)TCCCCT>TCTTCT	p.P118S	BSCL2_uc009yoc.1_Missense_Mutation_p.P118S|BSCL2_uc001nup.2_Missense_Mutation_p.P118S|BSCL2_uc001nuq.1_Missense_Mutation_p.P118S|BSCL2_uc001nur.3_Missense_Mutation_p.P182S|BSCL2_uc009yod.2_Missense_Mutation_p.P182S|BSCL2_uc001nut.3_Missense_Mutation_p.P182S|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	118	Lumenal (Potential).				cell death	integral to endoplasmic reticulum membrane					0						TGATTCACAGGGGACTCTGGCA	0.475			NA									OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	0.004672	0	0
SF3B2	10992	broad.mit.edu	37	11	65828200	65828200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:65828200G>T	uc001ogy.1	+	14	1817	c.1777G>T	c.(1777-1779)GAG>TAG	p.E593*		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	593					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCTGTACTATGAGGTTCGGGA	0.438			NA											10	53					0.000673444	0.000786638	0.008291	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68707165	68707165	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:68707165A>T	uc001ook.1	+	15	3050	c.2948A>T	c.(2947-2949)CAG>CTG	p.Q983L	IGHMBP2_uc001ool.1_Missense_Mutation_p.Q607L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	983					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAGCAACCAGAGGACCAGC	0.657			NA											6	15					0	0	0.001168	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748403	68748403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:68748403G>T	uc010rqf.1	-	1	53	c.53C>A	c.(52-54)TCC>TAC	p.S18Y		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	18	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCCCTCTGGAATAGTTTAG	0.552			NA											10	35					2.17888e-05	2.89955e-05	0.006214	1	0
PAK1	5058	broad.mit.edu	37	11	77064628	77064628	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:77064628C>A	uc001oyh.3	-	8	1322	c.789G>T	c.(787-789)GTG>GTT	p.V263V	PAK1_uc010rso.1_Silent_p.V165V|PAK1_uc001oyg.3_Silent_p.V263V|PAK1_uc001oyi.1_Silent_p.V263V|PAK1_uc010rsn.1_Intron	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	263	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					TAGGATCGCCCACACTCACTA	0.413			NA											17	28					2.35188e-11	4.0861e-11	0.006122	1	0
ODZ4	26011	broad.mit.edu	37	11	78369359	78369359	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:78369359T>A	uc001ozl.3	-	34	8517	c.8054A>T	c.(8053-8055)GAG>GTG	p.E2685V	ODZ4_uc001ozk.3_Missense_Mutation_p.E910V|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2685	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TGCCTTCTCCTCATCCAACGT	0.622			NA											6	16					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92498234	92498234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:92498234C>A	uc001pdj.3	+	5	4191	c.4174C>A	c.(4174-4176)CCT>ACT	p.P1392T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1392	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTAACACCCCTCTGTGGTT	0.383			NA								TCGA Ovarian(4;0.039)			7	16					0.00307968	0.00347347	0.00308	1	0
ENDOD1	23052	broad.mit.edu	37	11	94862606	94862606	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:94862606G>C	uc001pfh.2	+	2	1441	c.1366G>C	c.(1366-1368)GCA>CCA	p.A456P		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	456						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAAGGACATTGCACTGGGCCT	0.522			NA											10	100					0	0	0.010729	0	0
DLAT	1737	broad.mit.edu	37	11	111915913	111915913	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:111915913A>G	uc001pmo.2	+	9	1908	c.1249A>G	c.(1249-1251)ACA>GCA	p.T417A	DLAT_uc009yyk.1_Missense_Mutation_p.T312A|DLAT_uc010rwr.1_Missense_Mutation_p.T290A	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	417	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACCAGTTCCTACAGGTGTCTT	0.468			NA											40	96					0	0	0.009718	0	0
TTC12	54970	broad.mit.edu	37	11	113215031	113215031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113215031G>T	uc001pnu.2	+	13	1128	c.1023G>T	c.(1021-1023)AGG>AGT	p.R341S	TTC12_uc001pnv.2_Missense_Mutation_p.R347S|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R191S	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	341							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACCATGACAGGGCCAGGCTGT	0.562			NA											38	58					2.40579e-17	4.585e-17	0.00623	1	0
USP28	57646	broad.mit.edu	37	11	113712397	113712397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113712397C>A	uc001poh.2	-	4	395	c.362G>T	c.(361-363)AGA>ATA	p.R121I	USP28_uc010rwy.1_5'UTR|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R121I|USP28_uc010rwz.1_Missense_Mutation_p.R121I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	121					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)		GTTAAGATCTCTTCCATCAGC	0.393	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)		NA											5	67					2.0095e-06	2.82727e-06	0.001984	1	0
DSCAML1	57453	broad.mit.edu	37	11	117389381	117389381	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:117389381G>C	uc001prh.1	-	7	1492	c.1490C>G	c.(1489-1491)CCC>CGC	p.P497R	DSCAML1_uc001pri.1_Missense_Mutation_p.P301R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGACCGTGGGGGGCGGGGC	0.667			NA											6	35					0	0	0.001168	0	0
MLL	4297	broad.mit.edu	37	11	118366490	118366490	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:118366490A>T	uc001pta.2	+	19	5453	c.5430A>T	c.(5428-5430)GAA>GAT	p.E1810D	MLL_uc001ptb.2_Missense_Mutation_p.E1813D	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1810					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCGAGAGGAAAACAGCCACA	0.448			NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								5	93					0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	121028721	121028721	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121028721G>T	uc010rzo.1	+	13	4477	c.4477G>T	c.(4477-4479)GGC>TGC	p.G1493C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1493	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCCGGCGGCGGCGTCTTCCG	0.667			NA											3	28					0.004672	0.00515945	0.004672	1	0
SORL1	6653	broad.mit.edu	37	11	121385030	121385030	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121385030G>A	uc001pxx.2	+	8	1291	c.1211G>A	c.(1210-1212)AGG>AAG	p.R404K		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	404	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTTGGTGAGGTAAGGAGAC	0.438			NA											3	7					0	0	0.009096	0	0
ZNF202	7753	broad.mit.edu	37	11	123597077	123597077	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123597077T>A	uc001pzd.1	-	9	1975	c.1575A>T	c.(1573-1575)ACA>ACT	p.T525T	ZNF202_uc001pzc.1_Silent_p.T301T|ZNF202_uc001pze.1_Silent_p.T525T|ZNF202_uc001pzf.1_Silent_p.T525T	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	525	C2H2-type 4.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTTGGTGTGTTGTTAACACAG	0.493			NA											25	53					0	0	0.004656	0	0
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123900990G>T	uc001pzp.1	+	1	661	c.661G>T	c.(661-663)GTC>TTC	p.V221F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542			NA											19	65					2.94398e-08	4.53123e-08	0.007413	1	0
KCNA5	3741	broad.mit.edu	37	12	5154245	5154245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:5154245C>A	uc001qni.2	+	1	1161	c.932C>A	c.(931-933)ACG>AAG	p.T311K		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	311						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCTGGCCCTACGGTGGCACCG	0.711			NA											14	49					7.93312e-07	1.13236e-06	0.00245	1	0
MLF2	8079	broad.mit.edu	37	12	6857982	6857982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:6857982C>A	uc010sfi.1	-	8	789	c.726G>T	c.(724-726)CAG>CAT	p.Q242H	MLF2_uc001qqp.2_Missense_Mutation_p.Q242H|MLF2_uc009zey.1_Missense_Mutation_p.Q242H	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	242					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						AGCGGCGGGACTGTCGGGAAG	0.682			NA											13	48					2.31682e-05	3.07124e-05	0.003163	1	0
CLSTN3	9746	broad.mit.edu	37	12	7286289	7286289	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:7286289A>G	uc001qsr.2	+	3	586	c.308A>G	c.(307-309)AAG>AGG	p.K103R	CLSTN3_uc001qss.2_Missense_Mutation_p.K115R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	103	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GAGGCCCAGAAGGAACACACC	0.622			NA											16	50					0	0	0.00499	0	0
CLEC4D	338339	broad.mit.edu	37	12	8670779	8670779	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:8670779A>C	uc001qun.2	+	3	334	c.141A>C	c.(139-141)TCA>TCC	p.S47S		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	47	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					ACAACTTTTCACGCTGTAAGA	0.398			NA											6	6					0	0	0.001984	0	0
A2ML1	144568	broad.mit.edu	37	12	9004398	9004398	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9004398G>A	uc001quz.3	+	19	2351	c.2253G>A	c.(2251-2253)GCG>GCA	p.A751A	A2ML1_uc001qva.1_Silent_p.A331A|A2ML1_uc010sgm.1_Silent_p.A251A	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	595						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGAAGGAGGCGGTCCACGTCA	0.527			NA											6	28					0	0	0.001168	0	0
PZP	5858	broad.mit.edu	37	12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	rs150991757	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9356398G>A	uc001qvl.2	-	2	262	c.233C>T	c.(232-234)GCG>GTG	p.A78V	PZP_uc009zgl.2_5'UTR	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GTCCTTCTCCGCCACCAGGTC	0.512	Melanoma(125;1402 1695 4685 34487 38571)		NA											19	61					0	0	0.007413	0	0
DDX12	440081	broad.mit.edu	37	12	9572653	9572653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9572653C>T	uc010sgs.1	-	23	2491	c.2296G>A	c.(2296-2298)GTG>ATG	p.V766M	DDX12_uc001qvx.3_Translation_Start_Site|DDX12_uc001qvy.1_Translation_Start_Site	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						GCCCCTGTCACGGGGCCTCTC	0.567			NA											14	40					0	0	0.003163	0	0
DDX12	440081	broad.mit.edu	37	12	9572801	9572801	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9572801C>T	uc010sgs.1	-	22	2448	c.2253G>A	c.(2251-2253)GCG>GCA	p.A751A	DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						ACCTGGAATACGCCAGCAGCA	0.557			NA											3	10					0	0	0.004672	0	0
CSDA	8531	broad.mit.edu	37	12	10870707	10870707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:10870707C>T	uc001qyt.2	-	3	583	c.340G>A	c.(340-342)GAA>AAA	p.E114K	CSDA_uc001qyu.2_Missense_Mutation_p.E114K	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	114	CSD.				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					AATACATCTTCTTTGGTGTCA	0.353			NA											11	26					0	0	0.013537	0	0
FAR2	55711	broad.mit.edu	37	12	29460703	29460703	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:29460703A>C	uc001ris.3	+	5	805	c.658A>C	c.(658-660)AGG>CGG	p.R220R	FAR2_uc001rit.2_Silent_p.R220R|FAR2_uc009zjm.2_Silent_p.R123R|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	220					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						GCAAGAGAGCAGGAACCTGAA	0.483			NA											25	49					0	0	0.00278	0	0
FGD4	121512	broad.mit.edu	37	12	32735171	32735171	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32735171G>C	uc001rkz.2	+	4	847	c.370G>C	c.(370-372)GAT>CAT	p.D124H	FGD4_uc001rlc.2_Missense_Mutation_p.D209H|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.D236H|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.D124H	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	124	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCCTTGCTTGATACGCACAT	0.468			NA											5	65					0	0	0.000602	0	0
FGD4	121512	broad.mit.edu	37	12	32786555	32786555	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32786555A>C	uc001rkz.2	+	15	2311	c.1834A>C	c.(1834-1836)AAA>CAA	p.K612Q	FGD4_uc001rlc.2_Missense_Mutation_p.K697Q|FGD4_uc001rky.2_Missense_Mutation_p.K364Q|FGD4_uc001rla.2_Missense_Mutation_p.K268Q|FGD4_uc010ske.1_Missense_Mutation_p.K724Q|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	612	FYVE-type.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAAAGTTTGTAAAGACTGTTA	0.299			NA											9	30					0	0	0.004482	0	0
KIF21A	55605	broad.mit.edu	37	12	39703569	39703569	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:39703569C>A	uc001rly.2	-	33	4243	c.4097_splice	c.e33-1	p.D1366_splice	KIF21A_uc001rlv.2_Splice_Site_p.D311_splice|KIF21A_uc001rlw.2_Splice_Site_p.D636_splice|KIF21A_uc001rlx.2_Splice_Site_p.D1353_splice|KIF21A_uc001rlz.2_Splice_Site_p.D1313_splice|KIF21A_uc010skl.1_Splice_Site_p.D1329_splice|KIF21A_uc001rlt.2_Splice_Site|KIF21A_uc001rlu.2_Splice_Site	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAAGTACGATCTAAAACAAAC	0.318			NA											7	14					0.000274275	0.000331637	0.004482	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43771344	43771344	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:43771344T>C	uc010skx.1	-	32	4819	c.4819A>G	c.(4819-4821)AGT>GGT	p.S1607G		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1607	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCTGTAACTAAATCCACAG	0.333			NA											6	22					0	0	0.001168	0	0
GALNT6	11226	broad.mit.edu	37	12	51753114	51753114	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:51753114C>A	uc001ryk.2	-	7	1395	c.1170G>T	c.(1168-1170)GTG>GTT	p.V390V	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.V390V|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	390	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CACACTGCCACACCTGATGTA	0.582			NA											17	61					1.15088e-07	1.72506e-07	0.004007	1	0
KRT6B	3854	broad.mit.edu	37	12	52843418	52843418	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52843418C>T	uc001sak.2	-	5	961	c.913_splice	c.e5-1	p.E305_splice		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B						ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGACAGCTCCTGCAGAACAG	0.512			NA											17	82					0	0	0.004007	0	0
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52913586C>A	uc001san.2	-	1	658	c.495G>T	c.(493-495)AGG>AGT	p.R165S	KRT5_uc009zmh.2_Missense_Mutation_p.R165S	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	165	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522			NA											22	71					7.45023e-12	1.31093e-11	0.010504	1	0
MAP3K12	7786	broad.mit.edu	37	12	53880347	53880347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:53880347G>T	uc001sdm.1	-	4	504	c.406C>A	c.(406-408)CAG>AAG	p.Q136K	MAP3K12_uc001sdn.1_Missense_Mutation_p.Q169K	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	136	ATP (By similarity).|Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						ACAGCACCCTGGGCCCCTGAG	0.597			NA											3	16					6.4e-05	8.171e-05	0.004672	1	0
GLI1	2735	broad.mit.edu	37	12	57865660	57865660	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:57865660A>T	uc001snx.2	+	12	3215	c.3137A>T	c.(3136-3138)CAG>CTG	p.Q1046L	GLI1_uc009zpq.2_Missense_Mutation_p.Q918L	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	1046	Asp/Glu-rich (acidic).				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GACAACACTCAGCTGGACTTT	0.597	Pancreas(157;841 1936 10503 41495 50368)		NA											29	98					0	0	0.009535	0	0
SLC26A10	65012	broad.mit.edu	37	12	58019026	58019026	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:58019026G>T	uc001spe.2	+	12	1697	c.1386G>T	c.(1384-1386)GAG>GAT	p.E462D	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	462	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					TAGTTGCTGAGCCTGTCAGGG	0.552			NA											16	92					2.32078e-09	3.69606e-09	0.003163	1	0
AVPR1A	552	broad.mit.edu	37	12	63541318	63541318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:63541318C>A	uc001sro.1	-	2	3052	c.1078G>T	c.(1078-1080)GTT>TTT	p.V360F		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	360	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGCTTTGAACACAGTCTTGA	0.398			NA											10	55					0.000442599	0.000527744	0.006214	1	0
SRGAP1	57522	broad.mit.edu	37	12	64456799	64456799	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:64456799A>T	uc010ssp.1	+	7	960	c.904A>T	c.(904-906)ATT>TTT	p.I302F	SRGAP1_uc001srt.2_Missense_Mutation_p.I302F|SRGAP1_uc001srv.2_Missense_Mutation_p.I262F	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	302					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTAGACATTATTGAGAATGC	0.453			NA											8	36					0	0	0.00308	0	0
LGR5	8549	broad.mit.edu	37	12	71976302	71976302	+	Missense_Mutation	SNP	A	A	T	rs147607370		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:71976302A>T	uc001swl.2	+	17	1667	c.1619A>T	c.(1618-1620)CAG>CTG	p.Q540L	LGR5_uc001swm.2_Missense_Mutation_p.Q516L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	540	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CATTCAGTGCAGTGTTCACCT	0.433			NA											10	41					0	0	0.010729	0	0
TRHDE	29953	broad.mit.edu	37	12	73046831	73046831	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:73046831T>G	uc001sxa.2	+	17	2774	c.2744T>G	c.(2743-2745)CTG>CGG	p.L915R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	915	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GAGGTGGTGCTGGATCAAGAT	0.333			NA											8	24					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78522583	78522583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:78522583C>A	uc001syp.2	+	18	4551	c.4378C>A	c.(4378-4380)CCT>ACT	p.P1460T	NAV3_uc001syo.2_Missense_Mutation_p.P1460T|NAV3_uc010sub.1_Missense_Mutation_p.P946T|NAV3_uc009zsf.2_Missense_Mutation_p.P291T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1460	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAACCAGTCACCTCTGGTTTC	0.443			NA								HNSCC(70;0.22)			11	43					1.58986e-06	2.25067e-06	0.008291	1	0
ACSS3	79611	broad.mit.edu	37	12	81472166	81472166	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:81472166C>T	uc001szl.1	+	1	358	c.267C>T	c.(265-267)CCC>CCT	p.P89P	ACSS3_uc001szm.1_Silent_p.P89P	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	89						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GGTACAAGCCCTGGACCAAAA	0.602			NA											6	43					0	0	0.001168	0	0
ACSS3	79611	broad.mit.edu	37	12	81568685	81568685	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:81568685G>T	uc001szl.1	+	8	1308	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	ACSS3_uc001szm.1_Missense_Mutation_p.G405V|ACSS3_uc001szn.1_Missense_Mutation_p.G88V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	406						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CAGGACCCTGGGGCAGCTTTG	0.478			NA											4	28					0.00909568	0.00988598	0.009096	1	0
CDK17	5128	broad.mit.edu	37	12	96707213	96707213	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:96707213T>C	uc001tep.1	-	4	792	c.303A>G	c.(301-303)CTA>CTG	p.L101L	CDK17_uc009ztk.2_Silent_p.L101L|CDK17_uc010svb.1_Silent_p.L48L	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	101							ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						ATCCCATTTTTAGATTTTCAT	0.313			NA											5	20					0	0	0.000602	0	0
APAF1	317	broad.mit.edu	37	12	99102470	99102470	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:99102470A>T	uc001tfz.2	+	20	3406	c.2829A>T	c.(2827-2829)ATA>ATT	p.I943I	APAF1_uc001tfy.2_Silent_p.I932I|APAF1_uc001tga.2_Silent_p.I889I|APAF1_uc001tgb.2_Silent_p.I900I|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.I309I	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	943					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TTGACCATATAAGACGTCTGC	0.328			NA											5	14					0	0	0.000602	0	0
TDG	6996	broad.mit.edu	37	12	104379432	104379432	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:104379432A>T	uc001tkg.2	+	9	1239	c.1016A>T	c.(1015-1017)GAG>GTG	p.E339V	TDG_uc009zuk.2_Missense_Mutation_p.E335V|TDG_uc010swi.1_Missense_Mutation_p.E196V|TDG_uc010swj.1_Missense_Mutation_p.E127V	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	339					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCAGGTTATGAGGCAGCATAT	0.403			NA						BER_DNA_glycosylases					4	64					0	0	0.009096	0	0
WSCD2	9671	broad.mit.edu	37	12	108589825	108589825	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108589825G>T	uc001tms.2	+	2	960	c.216G>T	c.(214-216)CTG>CTT	p.L72L	WSCD2_uc001tmt.2_Silent_p.L72L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	72						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						ACATGCATCTGGGCAGAGGTT	0.622			NA											15	106					1.5739e-10	2.6671e-10	0.004007	1	0
TMEM119	338773	broad.mit.edu	37	12	108985845	108985845	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108985845G>T	uc001tng.2	-	2	478	c.315C>A	c.(313-315)GCC>GCA	p.A105A	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	105	Helical; (Potential).					integral to membrane				ovary(1)	1						TCAGCAGAAAGGCCAGGGAGC	0.587			NA											9	40					1.12685e-05	1.53216e-05	0.004482	1	0
EP400	57634	broad.mit.edu	37	12	132490798	132490798	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:132490798C>T	uc001ujn.2	+	13	3112	c.3077C>T	c.(3076-3078)GCG>GTG	p.A1026V	EP400_uc001ujl.2_Missense_Mutation_p.A1025V|EP400_uc001ujm.2_Missense_Mutation_p.A1026V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1062	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACGTCACTGCGGTGGCTGAA	0.552			NA											14	45					0	0	0.001855	0	0
MTMR6	9107	broad.mit.edu	37	13	25831917	25831917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:25831917C>A	uc001uqf.3	-	8	1245	c.926G>T	c.(925-927)CGC>CTC	p.R309L	MTMR6_uc001uqe.1_Missense_Mutation_p.R309L	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	309	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTGATATGGCGAAGCCATCC	0.388			NA											3	41					2.56e-06	3.57984e-06	0.009096	1	0
ATP8A2	51761	broad.mit.edu	37	13	26273477	26273477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:26273477G>T	uc001uqk.2	+	25	2520	c.2378G>T	c.(2377-2379)TGC>TTC	p.C793F	ATP8A2_uc010tdi.1_Missense_Mutation_p.C753F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C343F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	753	Cytoplasmic (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)		GCGGTCATATGCTGCAGGTAG	0.522			NA											7	14					0.00198382	0.00225226	0.001984	1	0
FRY	10129	broad.mit.edu	37	13	32835909	32835909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:32835909G>T	uc001utx.2	+	52	8069	c.7573G>T	c.(7573-7575)GAG>TAG	p.E2525*	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Nonsense_Mutation_p.E80*|FRY_uc001utz.2_Nonsense_Mutation_p.E50*|FRY_uc010tdx.1_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCATCCGAGGAGGAGGACCT	0.493			NA											4	33					0.00024832	0.000303453	0.009096	1	0
POSTN	10631	broad.mit.edu	37	13	38154116	38154116	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:38154116G>C	uc001uwo.3	-	12	1660	c.1542C>G	c.(1540-1542)AGC>AGG	p.S514R	POSTN_uc010tet.1_Missense_Mutation_p.S42R|POSTN_uc001uwp.3_Missense_Mutation_p.S514R|POSTN_uc001uwr.2_Missense_Mutation_p.S514R|POSTN_uc001uwq.2_Missense_Mutation_p.S514R|POSTN_uc010teu.1_Missense_Mutation_p.S514R|POSTN_uc010tev.1_Missense_Mutation_p.S514R|POSTN_uc010tew.1_Missense_Mutation_p.S514R|POSTN_uc010tex.1_Missense_Mutation_p.S429R	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	514	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCAAGTAGGCTGAGGAAGG	0.398			NA											5	37					0	0	0.000602	0	0
FREM2	341640	broad.mit.edu	37	13	39265078	39265079	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:39265078_39265079GG>TA	uc001uwv.2	+	1	3906_3907	c.3597_3598GG>TA	c.(3595-3600)ATGGTG>ATTATG	p.1199_1200MV>IM		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1199_1200	CSPG 8.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGAATTTATGGTGATGGAAGG	0.411			NA											17	95					0	0	0.004672	0	0
SUGT1	10910	broad.mit.edu	37	13	53254252	53254252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53254252G>T	uc001vhc.2	+	13	1183	c.958G>T	c.(958-960)GGT>TGT	p.G320C	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.G288C|SUGT1_uc010thb.1_Missense_Mutation_p.G232C|SUGT1_uc001vhd.2_Missense_Mutation_p.G177C	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	320	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CTATTCAGATGGTTCTGATGA	0.318			NA											12	91					4.36969e-10	7.20947e-10	0.001855	1	0
PCDH8	5100	broad.mit.edu	37	13	53420780	53420780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53420780G>T	uc001vhi.2	-	1	1995	c.1792C>A	c.(1792-1794)CGC>AGC	p.R598S	PCDH8_uc001vhj.2_Missense_Mutation_p.R598S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	598	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCAGCACGCGCACTTGCACT	0.657	GBM(36;25 841 9273 49207)		NA											5	5					0.000602214	0.000707037	0.000602	1	0
KLHL1	57626	broad.mit.edu	37	13	70681342	70681342	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:70681342C>G	uc001vip.2	-	1	1284	c.490G>C	c.(490-492)GGA>CGA	p.G164R	KLHL1_uc010thm.1_Missense_Mutation_p.G164R|ATXN8OS_uc010aej.1_5'Flank	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	164					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TACCTGTGTCCACATCCTTCA	0.512			NA											22	48					0	0	0.014323	0	0
UGGT2	55757	broad.mit.edu	37	13	96638604	96638604	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:96638604G>A	uc001vmt.2	-	9	1184	c.1014C>T	c.(1012-1014)AAC>AAT	p.N338N	UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Silent_p.N338N|UGGT2_uc010afp.2_Silent_p.N364N	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	338					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTATGGGGAAGTTCTGTGAAA	0.303			NA											5	24					0	0	0.001168	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485064	97485064	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485064A>T	uc001vmw.2	+	2	1052	c.1028A>T	c.(1027-1029)AAC>ATC	p.N343I		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	343	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGTGCAAAGAACAACCTGAAG	0.488			NA											9	51					0	0	0.008291	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485066	97485066	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485066A>T	uc001vmw.2	+	2	1054	c.1030A>T	c.(1030-1032)AAC>TAC	p.N344Y		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	344	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAGAACAACCTGAAGAA	0.488			NA											9	51					0	0	0.008291	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	rs4494468		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:20215674C>A	uc010tkt.1	+	1	88	c.88C>A	c.(88-90)CTA>ATA	p.L30I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378			NA											23	80					3.5997e-14	6.67545e-14	0.014323	1	0
Unknown	0	broad.mit.edu	37	14	22217500	22217500	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:22217500C>G	uc010tmf.1	+	1	106	c.27C>G	c.(25-27)TTC>TTG	p.F9L	uc010aip.1_Intron|uc010aiq.1_Missense_Mutation_p.F9L					SubName: Full=Putative uncharacterized protein ENSP00000374943;												NA						GATTTTCGTTCCTGTTTTTGT	0.453			NA											31	118					0	0	0.004289	0	0
MYH7	4625	broad.mit.edu	37	14	23885422	23885422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23885422C>A	uc001wjx.2	-	34	4850	c.4744G>T	c.(4744-4746)GAG>TAG	p.E1582*		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1582	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTCCATCTCCTCGTCCTTC	0.642			NA											31	111					9.65021e-13	1.729e-12	0.010818	1	0
MYH7	4625	broad.mit.edu	37	14	23886893	23886893	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23886893T>A	uc001wjx.2	-	31	4278	c.4172A>T	c.(4171-4173)AAG>ATG	p.K1391M		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1391	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCCAGCTTCTTCCTGCCCAG	0.582			NA											5	34					0	0	0.000602	0	0
G2E3	55632	broad.mit.edu	37	14	31071081	31071081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:31071081G>T	uc001wqk.2	+	9	1012	c.858G>T	c.(856-858)AGG>AGT	p.R286S	G2E3_uc010tpe.1_Missense_Mutation_p.R201S|G2E3_uc010tpf.1_Missense_Mutation_p.R240S	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	286	PHD-type 3.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TGGAATGTAGGGGTATTATCT	0.343			NA											9	39					0.000274275	0.000331637	0.004482	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724382	38724382	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:38724382G>A	uc001wum.1	-	1	1193	c.846C>T	c.(844-846)GAC>GAT	p.D282D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	282	Extracellular (Potential).|EGF-like.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGAGCGGCCGTCCTTCCCCA	0.677			NA											6	66					0	0	0.001168	0	0
LRFN5	145581	broad.mit.edu	37	14	42360569	42360569	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:42360569G>T	uc001wvm.2	+	4	2700	c.1502G>T	c.(1501-1503)AGA>ATA	p.R501I	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	501	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTGCCACAAGAGTCGTGGGT	0.433			NA								HNSCC(30;0.082)			22	82					1.36565e-18	2.62448e-18	0.00278	1	0
FANCM	57697	broad.mit.edu	37	14	45642334	45642334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:45642334C>T	uc001wwd.3	+	13	2336	c.2237C>T	c.(2236-2238)ACA>ATA	p.T746I	FANCM_uc010anf.2_Missense_Mutation_p.T720I|FANCM_uc001wwe.3_Missense_Mutation_p.T282I|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	746					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CCTTTGCCTACACATCAAGTT	0.388			NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	FanconAnemia				12	42					0	0	0.010729	0	0
KTN1	3895	broad.mit.edu	37	14	56104545	56104545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:56104545C>T	uc001xcb.2	+	13	2067	c.1765C>T	c.(1765-1767)CAT>TAT	p.H589Y	KTN1_uc001xce.2_Missense_Mutation_p.H589Y|KTN1_uc001xcc.2_Missense_Mutation_p.H589Y|KTN1_uc001xcd.2_Missense_Mutation_p.H589Y|KTN1_uc010trb.1_Missense_Mutation_p.H589Y|KTN1_uc001xcf.1_Missense_Mutation_p.H589Y	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	589	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TCAGCAGTTCCATTCCCAGAT	0.373			NA	T	RET	papillary thryoid								15	50					0	0	0.00499	0	0
RTN1	6252	broad.mit.edu	37	14	60193775	60193775	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:60193775G>T	uc001xen.1	-	3	1836	c.1627C>A	c.(1627-1629)CTG>ATG	p.L543M	RTN1_uc001xem.1_Missense_Mutation_p.L123M	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	543					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAGGCTCCAGGGCTCCGTCT	0.677			NA											6	10					3.59834e-05	4.69764e-05	0.001168	1	0
KCNH5	27133	broad.mit.edu	37	14	63416895	63416895	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63416895G>C	uc001xfx.2	-	7	1376	c.1325C>G	c.(1324-1326)ACA>AGA	p.T442R	KCNH5_uc001xfy.2_Missense_Mutation_p.T442R|KCNH5_uc001xfz.1_Missense_Mutation_p.T384R|KCNH5_uc001xga.2_Missense_Mutation_p.T384R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	442	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCACATCTGTGGTAGGAGC	0.398			NA											11	33					0	0	0.010729	0	0
KCNH5	27133	broad.mit.edu	37	14	63417223	63417223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63417223G>T	uc001xfx.2	-	7	1048	c.997C>A	c.(997-999)CGT>AGT	p.R333S	KCNH5_uc001xfy.2_Missense_Mutation_p.R333S|KCNH5_uc001xfz.1_Missense_Mutation_p.R275S|KCNH5_uc001xga.2_Missense_Mutation_p.R275S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	333	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTAGCCACACGGCCCAGTCGT	0.463			NA											14	52					1.52009e-12	2.70238e-12	0.003163	1	0
RDH12	145226	broad.mit.edu	37	14	68191237	68191238	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:68191237_68191238GC>CA	uc001xjz.3	+	4	440_441	c.116_117GC>CA	c.(115-117)GGC>GCA	p.G39A		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	39					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGCTTCCTGGCAAGGTAGTGG	0.535			NA											13	65					0	0	0.004672	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712911	70712911	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70712911A>T	uc010ttg.1	-	1	1608	c.957T>A	c.(955-957)TAT>TAA	p.Y319*		NR_003951				SubName: Full=ADAM21-like protein;												0						CGTCCTGCACATATCTATCTT	0.448			NA											5	37					0	0	0.000602	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713412	70713412	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70713412A>G	uc010ttg.1	-	1	1107	c.456T>C	c.(454-456)TGT>TGC	p.C152C		NR_003951				SubName: Full=ADAM21-like protein;												0						TATCAACTCCACAATCAATAG	0.408			NA											19	92					0	0	0.014323	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376737	75376737	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:75376737A>G	uc010tux.1	-	7	1307	c.779T>C	c.(778-780)CTG>CCG	p.L260P	RPS6KL1_uc001xqx.1_Missense_Mutation_p.L12P|RPS6KL1_uc001xqw.2_Missense_Mutation_p.L229P|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	260	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTGGGGTCAGGAGGTTGAG	0.642			NA											12	47					0	0	0.013537	0	0
GPR65	8477	broad.mit.edu	37	14	88477406	88477406	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88477406A>T	uc001xvv.2	+	2	745	c.215A>T	c.(214-216)GAT>GTT	p.D72V		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	72	Extracellular (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0						TTATGGATTGATTATACCTGG	0.393			NA											10	89					0	0	0.006214	0	0
KCNK10	54207	broad.mit.edu	37	14	88651918	88651918	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88651918C>A	uc001xwo.2	-	7	2035	c.1578G>T	c.(1576-1578)CGG>CGT	p.R526R	KCNK10_uc001xwm.2_Silent_p.R531R|KCNK10_uc001xwn.2_Silent_p.R531R	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	526	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TCTCCGGCTCCCGGTCTTTGG	0.428			NA											12	62					1.08611e-07	1.63869e-07	0.010729	1	0
SERPINA6	866	broad.mit.edu	37	14	94780929	94780929	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:94780929G>C	uc001ycv.2	-	2	161	c.57C>G	c.(55-57)ACC>ACG	p.T19T	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	19					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGCCTGGACGGTCCAGAGGC	0.547			NA											21	101					0	0	0.012319	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118736	100118736	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:100118736G>C	uc010avs.2	+	2	496	c.431G>C	c.(430-432)AGG>ACG	p.R144T	HHIPL1_uc001ygl.1_Missense_Mutation_p.R144T	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	144					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				AACCTTGCCAGGTTCTGCCGC	0.587			NA											10	49					0	0	0.006214	0	0
DIO3	1735	broad.mit.edu	37	14	102027990	102027990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:102027990C>T	uc010txq.1	+	1	303	c.79C>T	c.(79-81)CTC>TTC	p.L27F	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	27	Helical; Signal-anchor for type II membrane protein; (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CCCGCGCTTCCTCGGCACGGC	0.672			NA											4	43					0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415909	105415909	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:105415909G>T	uc010axc.1	-	7	5999	c.5879C>A	c.(5878-5880)GCC>GAC	p.A1960D	AHNAK2_uc001ypx.2_Missense_Mutation_p.A1860D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1960						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCCTTCTGGGCCTGGACATC	0.592			NA											44	174					1.52319e-26	3.04637e-26	0.00874	1	0
BAHD1	22893	broad.mit.edu	37	15	40751539	40751539	+	Silent	SNP	C	C	T	rs138741325		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:40751539C>T	uc001zlu.2	+	2	947	c.876C>T	c.(874-876)TCC>TCT	p.S292S	BAHD1_uc001zlt.2_Silent_p.S292S|BAHD1_uc010bbp.1_Silent_p.S292S|BAHD1_uc001zlv.2_Silent_p.S292S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	292	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTGGGCCATCCGTCCAGCCAT	0.662			NA											3	34					0	0	0.004672	0	0
HDC	3067	broad.mit.edu	37	15	50534992	50534993	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:50534992_50534993GG>TT	uc001zxz.2	-	12	1559_1560	c.1453_1454CC>AA	c.(1453-1455)CCT>AAT	p.P485N	HDC_uc001zxy.2_Missense_Mutation_p.P228N|HDC_uc010uff.1_Missense_Mutation_p.P452N	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	485					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCCAACCCGAGGGCTGGGTTGG	0.559	GBM(95;1627 1936 6910 9570)		NA											6	20					0	0	0.004672	0	0
DMXL2	23312	broad.mit.edu	37	15	51834664	51834664	+	Missense_Mutation	SNP	C	C	A	rs149964881	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:51834664C>A	uc002abf.2	-	9	1196	c.971G>T	c.(970-972)AGG>ATG	p.R324M	DMXL2_uc010ufy.1_Missense_Mutation_p.R324M|DMXL2_uc010bfa.2_Missense_Mutation_p.R324M	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	324						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AACAGATGACCTCCTCTGTCC	0.388			NA											6	28					0.00198382	0.00225226	0.001984	1	0
VPS13C	54832	broad.mit.edu	37	15	62265686	62265686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:62265686C>A	uc002agz.2	-	26	2658	c.2584G>T	c.(2584-2586)GGT>TGT	p.G862C	VPS13C_uc002aha.2_Missense_Mutation_p.G819C|VPS13C_uc002ahb.1_Missense_Mutation_p.G862C|VPS13C_uc002ahc.1_Missense_Mutation_p.G819C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	862					protein localization					ovary(2)	2						AGTGAAGTACCAAGTAGACCT	0.318			NA											11	57					9.31168e-06	1.27365e-05	0.001855	1	0
MAP2K5	5607	broad.mit.edu	37	15	67879196	67879196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:67879196G>T	uc002aqu.2	+	6	1029	c.376G>T	c.(376-378)GCC>TCC	p.A126S	MAP2K5_uc002aqt.1_Missense_Mutation_p.A126S|MAP2K5_uc002aqv.2_Missense_Mutation_p.A126S|MAP2K5_uc002aqw.2_5'UTR|MAP2K5_uc010ujw.1_Missense_Mutation_p.A90S	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	126	Interaction with MAPK7 (By similarity).				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2						GAATACTCGGGCCGGACCCTC	0.428			NA											24	73					1.33986e-20	2.62628e-20	0.004656	1	0
CLN6	54982	broad.mit.edu	37	15	68500742	68500742	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68500742C>A	uc002arf.2	-	7	830	c.672G>T	c.(670-672)CTG>CTT	p.L224L	CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_Silent_p.L95L|CLN6_uc010ujz.1_Silent_p.L256L	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	224	Helical; (Potential).				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						CCTCGGTGACCAGGTACCTGG	0.632			NA											6	28					5.9392e-07	8.56639e-07	0.001168	1	0
FEM1B	10116	broad.mit.edu	37	15	68582377	68582377	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68582377C>A	uc002arg.2	+	2	1296	c.681C>A	c.(679-681)GCC>GCA	p.A227A	FEM1B_uc002arh.2_Silent_p.A147A	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	227	ANK 6.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						AAGTAGCTGCCGAAAGCTGTA	0.473			NA											12	36					0.00010058	0.000125588	0.013537	1	0
LOC645752	645752	broad.mit.edu	37	15	78208207	78208207	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78208207A>T	uc010bky.2	-	15	1726	c.962T>A	c.(961-963)CTT>CAT	p.L321H	LOC645752_uc010umq.1_5'Flank|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank	NR_027024				SubName: Full=GOLGA6 protein; Flags: Fragment;												0						GACGAATCCAAGCTCTCGTCT	0.602			NA											4	45					0	0	0.009096	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78211648A>G	uc010bky.2	-	11	883	c.119T>C	c.(118-120)CTA>CCA	p.L40P		NR_027024				SubName: Full=GOLGA6 protein; Flags: Fragment;												0						CGCCAGGGATAGGGGCTCAGC	0.522			NA											3	63					0	0	0.004672	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894452	78894452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78894452C>A	uc002bec.2	-	5	718	c.532G>T	c.(532-534)GGT>TGT	p.G178C	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.G178C	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	178	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GACCAGGAACCGAACTTCATG	0.502			NA											22	108					1.66031e-10	2.78607e-10	0.003954	1	0
IL16	3603	broad.mit.edu	37	15	81578129	81578129	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:81578129C>A	uc002bgh.3	+	10	1666	c.1290C>A	c.(1288-1290)CCC>CCA	p.P430P	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P430P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P472P|IL16_uc002bgg.2_Silent_p.P430P|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	430	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						ACTGTGATCCCGGTCCAGTCC	0.522			NA											19	82					2.94398e-08	4.53123e-08	0.007413	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611395	84611395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:84611395G>A	uc002bjz.3	+	18	2389	c.2165G>A	c.(2164-2166)GGA>GAA	p.G722E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G722E|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G722E	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	722	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGGAGTTGGAATTCAGACC	0.537			NA											14	52					0	0	0.003163	0	0
FURIN	5045	broad.mit.edu	37	15	91421384	91421384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:91421384G>T	uc002bpu.1	+	8	906	c.690G>T	c.(688-690)GAG>GAT	p.E230D		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	230					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGATGGCGAGGTGACAGATG	0.662			NA											12	53					1.05317e-09	1.71296e-09	0.00245	1	0
ZNF200	7752	broad.mit.edu	37	16	3283746	3283746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:3283746C>A	uc002cuj.2	-	2	642	c.10G>T	c.(10-12)GCA>TCA	p.A4S	ZNF200_uc002cum.3_Missense_Mutation_p.A4S|ZNF200_uc010bti.2_Missense_Mutation_p.A4S|ZNF200_uc002cuk.2_Missense_Mutation_p.A4S|ZNF200_uc002cui.2_Missense_Mutation_p.A4S|ZNF200_uc002cul.3_Missense_Mutation_p.A4S	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						ACCACTTTTGCAGCCATCATG	0.537			NA											21	108					1.28384e-07	1.92018e-07	0.012319	1	0
MYH11	4629	broad.mit.edu	37	16	15826436	15826436	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:15826436A>T	uc002ddy.2	-	27	3743	c.3636T>A	c.(3634-3636)CTT>CTA	p.L1212L	MYH11_uc002ddv.2_Silent_p.L1219L|MYH11_uc002ddw.2_Silent_p.L1212L|MYH11_uc002ddx.2_Silent_p.L1219L|MYH11_uc010bvg.2_Silent_p.L1044L	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1212	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TGAACTGCTCAAGCTGCTCTG	0.517			NA	T	CBFB	AML								17	132					0	0	0.006122	0	0
CP110	9738	broad.mit.edu	37	16	19562548	19562548	+	Missense_Mutation	SNP	G	G	T	rs141344673	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:19562548G>T	uc002dgl.3	+	15	3264	c.3017G>T	c.(3016-3018)CGG>CTG	p.R1006L	CP110_uc002dgk.3_Silent_p.A977A			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	1006					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CAAAGAAAGCGGCCAAATGTT	0.308			NA											22	113					1.9806e-07	2.95586e-07	0.014323	1	0
UMOD	7369	broad.mit.edu	37	16	20352638	20352638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20352638C>A	uc002dgz.2	-	7	1481	c.1352G>T	c.(1351-1353)GGC>GTC	p.G451V	UMOD_uc002dha.2_Missense_Mutation_p.G451V|UMOD_uc002dhb.2_Missense_Mutation_p.G484V	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	451	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						GCCGGTCCCGCCCACTCTGAT	0.577			NA											5	29					1.23904e-05	1.67149e-05	0.000602	1	0
ACSM5	54988	broad.mit.edu	37	16	20441028	20441028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20441028C>A	uc002dhe.2	+	8	1177	c.1030C>A	c.(1030-1032)CTG>ATG	p.L344M		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	344					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GAGGCACTGTCTGACCGGAGG	0.562			NA											18	86					1.99824e-07	2.9693e-07	0.00499	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554585	20554585	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20554585C>A	uc002dhj.3	-	12	1492	c.1282_splice	c.e12-1	p.E428_splice	ACSM2B_uc002dhk.3_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member						fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CGGGATTTTCCTGGTGACCAC	0.483			NA											20	119					9.57634e-11	1.63894e-10	0.00333	1	0
SCNN1G	6340	broad.mit.edu	37	16	23203735	23203735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:23203735G>T	uc002dlm.1	+	4	820	c.681G>T	c.(679-681)CAG>CAT	p.Q227H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	227	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCATTCAGGAGTGGTATA	0.502			NA											8	54					3.09899e-07	4.56553e-07	0.004482	1	0
APOB48R	55911	broad.mit.edu	37	16	28509075	28509075	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:28509075G>A	uc002dqb.1	+	3	2696	c.2686G>A	c.(2686-2688)GGG>AGG	p.G896R	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G434R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	896	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GGGGCGGTGTGGGGACTACCA	0.617			NA											5	7					0	0	0.001168	0	0
ITGAX	3687	broad.mit.edu	37	16	31382660	31382660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:31382660G>T	uc002ebu.1	+	16	1914	c.1847G>T	c.(1846-1848)AGA>ATA	p.R616I	ITGAX_uc002ebt.2_Missense_Mutation_p.R616I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	616	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CGCAGGACCAGACCTGTGCTC	0.652			NA											5	16					3.59834e-05	4.69764e-05	0.001168	1	0
ABCC11	85320	broad.mit.edu	37	16	48249190	48249190	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:48249190G>T	uc002eff.1	-	7	1367	c.1017C>A	c.(1015-1017)ATC>ATA	p.I339I	ABCC11_uc002efg.1_Silent_p.I339I|ABCC11_uc002efh.1_Silent_p.I339I|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	339	ABC transmembrane type-1 1.					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)				TGGTCACACGGATGCGCTGGT	0.438			NA							Cerumen_Type				4	50					0.00909568	0.00988598	0.009096	1	0
COG4	25839	broad.mit.edu	37	16	70542344	70542344	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:70542344C>A	uc002ezc.2	-	8	1037	c.1026G>T	c.(1024-1026)CTG>CTT	p.L342L	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L342L|COG4_uc002eze.2_Silent_p.L36L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	338					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				AATTTCTCATCAGGTTGTTCT	0.408			NA											10	21					4.68919e-08	7.18522e-08	0.008291	1	0
VAT1L	57687	broad.mit.edu	37	16	77918688	77918688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:77918688G>A	uc002ffg.1	+	7	1163	c.1066G>A	c.(1066-1068)GCT>ACT	p.A356T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	356							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTCCTTGTGGGCTCTGGAGGA	0.473			NA											4	12					0	0	0.009096	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906612	84906612	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:84906612C>T	uc010voh.1	+	10	1223	c.996C>T	c.(994-996)TGC>TGT	p.C332C	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.C331C|CRISPLD2_uc002fim.2_Silent_p.C332C|CRISPLD2_uc002fin.3_Silent_p.C332C	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	332	LCCL 1.					extracellular region|transport vesicle					0						CTAGCATATGCCGCGCCGCCA	0.542			NA											4	97					0	0	0.009096	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445200	87445200	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:87445200G>C	uc002fjz.1	-	12	2743	c.2716C>G	c.(2716-2718)CTA>GTA	p.L906V	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L682V	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	906	CCHC-type.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TAACAAGATAGGTTCCCGCTC	0.607			NA											14	77					0	0	0.001855	0	0
MYO1C	4641	broad.mit.edu	37	17	1384168	1384169	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:1384168_1384169CA>AG	uc002fsp.2	-	6	858_859	c.638_639TG>CT	c.(637-639)GTG>GCT	p.V213A	MYO1C_uc002fsn.2_Missense_Mutation_p.V194A|MYO1C_uc002fso.2_Missense_Mutation_p.V178A|MYO1C_uc010vqj.1_Missense_Mutation_p.V178A|MYO1C_uc010vqk.1_Missense_Mutation_p.V189A	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	213	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTGGCCACCCACGGGGGCACC	0.604			NA											5	61					0	0	0.004672	0	0
NEURL4	84461	broad.mit.edu	37	17	7224528	7224528	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7224528C>A	uc002gga.1	-	20	3270	c.3263G>T	c.(3262-3264)AGA>ATA	p.R1088I	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.R1086I	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1088							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCCTCCAGTCTCGTGGAACT	0.592			NA											6	11					0.00116845	0.00134655	0.001168	1	0
TP53	7157	broad.mit.edu	37	17	7574026	7574026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7574026C>A	uc002gim.2	-	10	1195	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.G202V|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.G334V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	334	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		G -> W (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.G334V(3)|p.I332fs*5(1)|p.G334W(1)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCTCACGCCCACGGATCTG	0.428	Pancreas(47;798 1329 9957 10801)		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	22					1.76689e-08	2.74407e-08	0.006214	1	0
MYH1	4619	broad.mit.edu	37	17	10399347	10399347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:10399347C>A	uc002gmo.2	-	35	5183	c.5089G>T	c.(5089-5091)GAA>TAA	p.E1697*	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1697	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TCTGTCTGTTCCAGAGTGGCC	0.572			NA											6	36					2.0095e-06	2.82727e-06	0.001984	1	0
DNAH9	1770	broad.mit.edu	37	17	11835517	11835517	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:11835517G>A	uc002gne.2	+	64	12360	c.12292G>A	c.(12292-12294)GCA>ACA	p.A4098T	DNAH9_uc010coo.2_Missense_Mutation_p.A3316T|DNAH9_uc002gnf.2_Missense_Mutation_p.A410T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4098					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGGCCAACGCAAAGGTAAA	0.443			NA											7	23					0	0	0.00308	0	0
PHF12	57649	broad.mit.edu	37	17	27251018	27251018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:27251018C>T	uc002hdg.1	-	4	1154	c.624G>A	c.(622-624)CGG>CGA	p.R208R	PHF12_uc010wbb.1_Silent_p.R190R|PHF12_uc002hdi.1_Silent_p.R204R|PHF12_uc002hdj.1_Silent_p.R208R|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	208	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCTCAAAGGGCCGCCTCAGCT	0.562			NA											11	21					0	0	0.010729	0	0
EVI2B	2124	broad.mit.edu	37	17	29632168	29632169	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:29632168_29632169GG>TT	uc002hgk.2	-	2	614_615	c.459_460CC>AA	c.(457-462)GTCCAG>GTAAAG	p.Q154K	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q169K	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	154	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAGGGATCTGGACAGATGATG	0.406			NA											22	122					0	0	0.004672	0	0
ACACA	31	broad.mit.edu	37	17	35627714	35627714	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:35627714G>A	uc002hnm.2	-	10	1127	c.936C>T	c.(934-936)GCC>GCT	p.A312A	ACACA_uc002hnk.2_Silent_p.A234A|ACACA_uc002hnl.2_Silent_p.A254A|ACACA_uc002hnn.2_Silent_p.A312A|ACACA_uc002hno.2_Silent_p.A349A|ACACA_uc010cuz.2_Silent_p.A312A	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	312	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCCTCTGAGGCCTTGATCA	0.388	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)		NA											33	127					0	0	0.013726	0	0
KRT10	3858	broad.mit.edu	37	17	38978715	38978715	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:38978715G>T	uc002hvi.2	-	1	149	c.123C>A	c.(121-123)GGC>GGA	p.G41G	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	41	Head.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				CACCAAGGGAGCCTTTGCTGC	0.443			NA											9	30					0.000274275	0.000331637	0.004482	1	0
KRT34	3885	broad.mit.edu	37	17	39537424	39537424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39537424C>A	uc002hwm.2	-	3	610	c.598G>T	c.(598-600)GAC>TAC	p.D200Y		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	200	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CTGTTGATGTCCGACTCCACC	0.567			NA											12	53					0.000978159	0.00113486	0.010729	1	0
KRT38	8687	broad.mit.edu	37	17	39596834	39596834	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39596834G>A	uc002hwq.1	-	1	763	c.340C>T	c.(340-342)CGC>TGC	p.R114C		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	114	Coil 1A.|Rod.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				TTGGCCAGGCGGTCATTCAGG	0.582			NA											20	71					0	0	0.008871	0	0
KRT13	3860	broad.mit.edu	37	17	39661464	39661464	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39661464G>A	uc002hwu.1	-	1	402	c.339C>T	c.(337-339)GAC>GAT	p.D113D	KRT13_uc002hwv.1_Silent_p.D113D|KRT13_uc002hww.2_Silent_p.D6D|KRT13_uc010wfr.1_Silent_p.D6D|KRT13_uc010cxo.2_Silent_p.D113D|KRT13_uc002hwx.1_Silent_p.D101D	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	113	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				AAGCCAGGCGGTCGTTGAGGT	0.438			NA											19	78					0	0	0.008871	0	0
GFAP	2670	broad.mit.edu	37	17	42992462	42992462	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:42992462G>C	uc002ihq.2	-	1	453	c.393C>G	c.(391-393)ACC>ACG	p.T131T	GFAP_uc002ihr.2_Silent_p.T131T|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	131	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				CGCTGTTGGCGGTGAGTTGAT	0.652			NA											5	27					0	0	0.001168	0	0
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:57275120G>A	uc002ixf.1	+	9	1063	c.984G>A	c.(982-984)GTG>GTA	p.V328V	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	328										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.358			NA											6	63					0	0	0.00308	0	0
MED13	9969	broad.mit.edu	37	17	60042440	60042440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60042440C>A	uc002izo.2	-	20	4848	c.4771G>T	c.(4771-4773)GCT>TCT	p.A1591S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1591					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTCTGTAGAGCTGATGTCTGT	0.453			NA											9	34					1.12685e-05	1.53216e-05	0.004482	1	0
EFCAB3	146779	broad.mit.edu	37	17	60460396	60460396	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60460396C>G	uc002izu.1	+	2	134	c.56C>G	c.(55-57)CCC>CGC	p.P19R	EFCAB3_uc010wpc.1_Missense_Mutation_p.P71R	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	19							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ACAAAAGTACCCATCTCCCAC	0.274			NA											7	25					0	0	0.001984	0	0
MRC2	9902	broad.mit.edu	37	17	60749477	60749477	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60749477G>C	uc002jad.2	+	8	1827	c.1425G>C	c.(1423-1425)CGG>CGC	p.R475R	MRC2_uc002jac.2_Silent_p.R475R	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	475	Extracellular (Potential).|C-type lectin 2.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAACTTCCGGGACAGTCTGG	0.572			NA											13	71					0	0	0.00245	0	0
SCN4A	6329	broad.mit.edu	37	17	62018249	62018249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:62018249G>T	uc002jds.1	-	24	5470	c.5393C>A	c.(5392-5394)GCA>GAA	p.A1798E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1798					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGCGTCCCCTGCCTCGCCCTT	0.667			NA											13	20					9.05144e-12	1.58862e-11	0.001855	1	0
ABCA9	10350	broad.mit.edu	37	17	67022604	67022604	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:67022604C>T	uc002jhu.2	-	16	2198	c.2055G>A	c.(2053-2055)AGG>AGA	p.R685R	ABCA9_uc010dez.2_Silent_p.R685R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	685	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TGAACACCTTCCTGTCTAGTT	0.368			NA											5	114					0	0	0.000602	0	0
CD300E	342510	broad.mit.edu	37	17	72619802	72619802	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:72619802C>A	uc002jlb.1	-	1	1	c.-40_splice	c.e1-1			NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule precursor							integral to membrane|plasma membrane	receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						AATCTAGGTCCCAGCTGGAAT	0.502			NA											13	51					0.00010058	0.000125588	0.013537	1	0
RNF157	114804	broad.mit.edu	37	17	74158669	74158669	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:74158669A>G	uc002jqz.2	-	9	825	c.756T>C	c.(754-756)TAT>TAC	p.Y252Y	RNF157_uc002jra.2_Silent_p.Y252Y	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	252							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TTTCAATTCCATAGATCTCCT	0.443	GBM(186;507 2120 27388 27773 52994)		NA											10	21					0	0	0.008291	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684833	80684833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:80684833A>G	uc002kfu.2	+	6	766	c.716A>G	c.(715-717)TAC>TGC	p.Y239C	FN3KRP_uc010wvr.1_Missense_Mutation_p.Y189C	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	239							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCTTCTTTCTACGGCCACTCG	0.562			NA											15	52					0	0	0.003163	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254231	9254231	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:9254231A>T	uc002knv.2	+	9	1223	c.966A>T	c.(964-966)GTA>GTT	p.V322V	ANKRD12_uc002knw.2_Silent_p.V299V|ANKRD12_uc002knx.2_Silent_p.V299V|ANKRD12_uc010dkx.1_Silent_p.V29V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	322						nucleus				ovary(2)|central_nervous_system(1)	3						CTCAATCTGTAAATCCTTCTA	0.338			NA											7	41					0	0	0.00308	0	0
FAM38B	63895	broad.mit.edu	37	18	10681740	10681740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:10681740G>T	uc002kor.3	-	9	1369	c.1229C>A	c.(1228-1230)ACA>AAA	p.T410K	FAM38B_uc002koq.2_Missense_Mutation_p.T245K	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2453						integral to membrane	ion channel activity			ovary(1)	1						GGCACTCATTGTGAAAATAGG	0.388			NA											13	73					0.00185496	0.00213057	0.001855	1	0
DSG4	147409	broad.mit.edu	37	18	28986078	28986078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:28986078C>A	uc002kwq.2	+	12	1810	c.1675C>A	c.(1675-1677)CCA>ACA	p.P559T	DSG4_uc002kwr.2_Missense_Mutation_p.P559T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	559	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTTTTATCTCCAGGATTTTA	0.443			NA											5	25					0.000602214	0.000707037	0.000602	1	0
ASXL3	80816	broad.mit.edu	37	18	31319095	31319095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31319095C>A	uc010dmg.1	+	11	1782	c.1727C>A	c.(1726-1728)TCA>TAA	p.S576*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.S283*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAAACAGGGTCATCTTCTCTA	0.423			NA											6	13					3.59834e-05	4.69764e-05	0.001168	1	0
ASXL3	80816	broad.mit.edu	37	18	31324912	31324912	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31324912T>A	uc010dmg.1	+	12	5155	c.5100T>A	c.(5098-5100)TCT>TCA	p.S1700S	ASXL3_uc002kxq.2_Silent_p.S1407S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGGGAGCCTCTAGTGTACAAC	0.527			NA											6	52					0	0	0.001984	0	0
DCC	1630	broad.mit.edu	37	18	50451740	50451740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:50451740G>T	uc002lfe.1	+	5	1572	c.985G>T	c.(985-987)GTT>TTT	p.V329F	DCC_uc010xdr.1_Missense_Mutation_p.V177F	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	329	Extracellular (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGTCTTGGGTAAGTTAGT	0.373			NA											11	56					2.27111e-07	3.35306e-07	0.013537	1	0
RTTN	25914	broad.mit.edu	37	18	67794893	67794893	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:67794893G>A	uc002lkp.2	-	25	3296	c.3228C>T	c.(3226-3228)CTC>CTT	p.L1076L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L164L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1076							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAATGGAATGGAGGCAGTCCT	0.438			NA											6	26					0	0	0.001984	0	0
NETO1	81832	broad.mit.edu	37	18	70461640	70461640	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:70461640C>A	uc002lkw.2	-	5	754	c.470_splice	c.e5-1	p.D157_splice	NETO1_uc002lkx.1_Splice_Site_p.D156_splice|NETO1_uc002lky.1_Splice_Site_p.D157_splice	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTCAGGATCTTAAAAATTG	0.294			NA											12	53					5.50884e-06	7.58016e-06	0.013537	1	0
TSHZ1	10194	broad.mit.edu	37	18	73000452	73000452	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:73000452G>A	uc002lly.2	+	2	3518	c.2955G>A	c.(2953-2955)GAG>GAA	p.E985E		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	1030						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGGCCACCGAGGAAGACTTGG	0.517			NA											11	48					0	0	0.010729	0	0
POLRMT	5442	broad.mit.edu	37	19	619717	619717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:619717G>A	uc002lpf.1	-	13	2991	c.2935C>T	c.(2935-2937)CAG>TAG	p.Q979*		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	979	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCACCTGTGCCACCCGC	0.687			NA											11	97					0	0	0.008291	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507362	1507362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:1507362C>A	uc002ltd.2	-	9	1175	c.731G>T	c.(730-732)TGG>TTG	p.W244L	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.W13L|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.W254L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	244						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGACCACCCAGTGCCCATT	0.657			NA											10	28					2.17888e-05	2.89955e-05	0.006214	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2389903	2389903	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:2389903C>G	uc010xgx.1	+	1	120	c.120C>G	c.(118-120)GTC>GTG	p.V40V	TMPRSS9_uc002lvv.1_Silent_p.V40V	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTGTCGTCCTCACCCTGG	0.592			NA											4	37					0	0	0.000602	0	0
FUT3	2525	broad.mit.edu	37	19	5844780	5844780	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5844780A>G	uc002mdk.2	-	2	168	c.71T>C	c.(70-72)CTG>CCG	p.L24P	FUT3_uc002mdm.2_Missense_Mutation_p.L24P|FUT3_uc002mdj.2_Missense_Mutation_p.L24P|FUT3_uc002mdl.2_Missense_Mutation_p.L24P|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	24	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						AGCCACCAGCAGCTGAAATAG	0.607	Esophageal Squamous(82;745 1728 24593 44831)		NA											4	17					0	0	0.009096	0	0
CAPS	828	broad.mit.edu	37	19	5915067	5915067	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5915067C>G	uc002mdt.2	+	4	528	c.378C>G	c.(376-378)GCC>GCG	p.A126A	CAPS_uc002mdu.2_Silent_p.A126A	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	126	EF-hand 3.				intracellular signal transduction	cytoplasm	calcium ion binding				0						GTGGCCGTGCCCACCCCAAGG	0.677			NA											10	73					0	0	0.010729	0	0
TUBB4	10382	broad.mit.edu	37	19	6495189	6495189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:6495189C>T	uc002mfg.1	-	4	1428	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K	TUBB4_uc002mff.1_Missense_Mutation_p.E369K|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	441					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCCACCTCCTCCTCCGCCTCC	0.632			NA											10	46					0	0	0.006214	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651527	8651528	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:8651527_8651528CC>AG	uc002mkj.1	-	20	2591_2592	c.2317_2318GG>CT	c.(2317-2319)GGG>CTG	p.G773L	ADAMTS10_uc002mki.1_Missense_Mutation_p.G260L|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G405L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	773	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						AAAGGTGGTCCCAGCTAGAGGC	0.634			NA									OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	66					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9061767	9061767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9061767G>C	uc002mkp.2	-	3	25883	c.25679C>G	c.(25678-25680)TCT>TGT	p.S8560C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8562	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGAGACAGAGCTGGCTTC	0.502			NA											8	25					0	0	0.00308	0	0
MUC16	94025	broad.mit.edu	37	19	9088580	9088580	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9088580A>G	uc002mkp.2	-	1	3439	c.3235T>C	c.(3235-3237)TCA>CCA	p.S1079P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1079	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTGACATTGAGACACTTTCT	0.453			NA											4	45					0	0	0.009096	0	0
CACNA1A	773	broad.mit.edu	37	19	13423523	13423524	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:13423523_13423524CG>AA	uc010dze.2	-	12	1866_1867	c.1630_1631CG>TT	c.(1630-1632)CGG>TTG	p.R544L	CACNA1A_uc010dzc.2_Missense_Mutation_p.R69L|CACNA1A_uc002mwy.3_Missense_Mutation_p.R543L|CACNA1A_uc010xne.1_Missense_Mutation_p.R69L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	544	Cytoplasmic (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAGTAAGGCCGCGTCCCAAGC	0.441			NA											15	41					0	0	0.004672	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922725	17922725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:17922725G>T	uc002nhk.1	+	3	998	c.913G>T	c.(913-915)GAG>TAG	p.E305*	B3GNT3_uc002nhl.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebd.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebe.1_Nonsense_Mutation_p.E305*	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	305	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						TATGTGTCTGGAGCTTGAGGG	0.622			NA											32	86					1.02151e-06	1.45507e-06	0.013726	1	0
PDE4C	5143	broad.mit.edu	37	19	18332994	18332994	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:18332994A>G	uc010xqc.1	-	2	862	c.382T>C	c.(382-384)TAT>CAT	p.Y128H	PDE4C_uc002nik.3_Missense_Mutation_p.Y128H|PDE4C_uc002nil.3_Missense_Mutation_p.Y128H|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.Y22H|PDE4C_uc002nii.3_Missense_Mutation_p.Y96H|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.Y128H	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	128					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	GAGAGTTCATAGTCGCTATCT	0.642			NA											4	23					0	0	0.009096	0	0
NCAN	1463	broad.mit.edu	37	19	19344651	19344651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:19344651G>C	uc002nlz.2	+	9	3172	c.3073G>C	c.(3073-3075)GCC>CCC	p.A1025P	NCAN_uc010ecc.1_Missense_Mutation_p.A589P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1025	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GACATGTAATGCCAATGGCAC	0.463			NA											18	40					0	0	0.010504	0	0
ZNF536	9745	broad.mit.edu	37	19	30934612	30934612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:30934612C>A	uc002nsu.1	+	2	281	c.143C>A	c.(142-144)CCC>CAC	p.P48H	ZNF536_uc010edd.1_Missense_Mutation_p.P48H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CATGCCTTCCCCGAGCTCCAT	0.667			NA											19	65					5.35267e-07	7.83539e-07	0.007413	1	0
ZNF536	9745	broad.mit.edu	37	19	31040321	31040321	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:31040321G>T	uc002nsu.1	+	4	3933	c.3795G>T	c.(3793-3795)CTG>CTT	p.L1265L	ZNF536_uc010edd.1_Silent_p.L1265L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGAACATGCTGTCGGTCCTCA	0.587			NA											11	14					6.40141e-05	8.171e-05	0.010729	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770507	31770507	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:31770507G>T	uc002nsy.3	-	2	257	c.192C>A	c.(190-192)GCC>GCA	p.A64A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	64					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					AAAACTCGGCGGCCGGGGAGT	0.592			NA											4	20					0.00909568	0.00988598	0.009096	1	0
KIRREL2	84063	broad.mit.edu	37	19	36350480	36350480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36350480G>T	uc002ocb.3	+	5	832	c.620G>T	c.(619-621)CGG>CTG	p.R207L	KIRREL2_uc002obz.3_Missense_Mutation_p.R207L|KIRREL2_uc002oca.3_Missense_Mutation_p.R157L|KIRREL2_uc002occ.3_Missense_Mutation_p.R154L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R204L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	207	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGGCCCGGAGCCAGGCC	0.627			NA											11	60					1.08611e-07	1.63869e-07	0.010729	1	0
CLIP3	25999	broad.mit.edu	37	19	36508345	36508345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36508345C>A	uc010eeq.1	-	11	1741	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Nonsense_Mutation_p.G487*	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	487					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGTGGATCCGCCAATCCTG	0.567			NA											13	45					1.05317e-09	1.71296e-09	0.00245	1	0
ZNF260	339324	broad.mit.edu	37	19	37005059	37005059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37005059C>A	uc002oee.1	-	4	1926	c.1082G>T	c.(1081-1083)GGT>GTT	p.G361V	ZNF260_uc002oed.1_Missense_Mutation_p.G358V|ZNF260_uc010eey.1_Missense_Mutation_p.G358V|ZNF260_uc002oef.1_Missense_Mutation_p.G358V	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	361	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTCATTACAACCATAGGGTTT	0.438			NA											13	53					0.000219431	0.000269587	0.00245	1	0
ZNF585A	199704	broad.mit.edu	37	19	37644496	37644496	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37644496C>A	uc002ofo.1	-	5	536	c.305G>T	c.(304-306)TGG>TTG	p.W102L	ZNF585A_uc002ofm.1_Missense_Mutation_p.W47L|ZNF585A_uc002ofn.1_Missense_Mutation_p.W47L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.313			NA											12	73					3.07112e-06	4.26854e-06	0.010729	1	0
RYR1	6261	broad.mit.edu	37	19	38984999	38984999	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:38984999G>A	uc002oit.2	+	39	6412	c.6282G>A	c.(6280-6282)CTG>CTA	p.L2094L	RYR1_uc002oiu.2_Silent_p.L2094L|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2094	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGGGTCCCTGCAGGAGCTGG	0.647			NA											9	30					0	0	0.006214	0	0
CD177	57126	broad.mit.edu	37	19	43858498	43858498	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:43858498C>T	uc002owi.2	+	3	375	c.333C>T	c.(331-333)AAC>AAT	p.N111N	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	111					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				ACTTCTGCAACAACCTCGTTA	0.672			NA											4	49					0	0	0.009096	0	0
CBLC	23624	broad.mit.edu	37	19	45295768	45295768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:45295768G>T	uc002ozs.2	+	7	1197	c.1134G>T	c.(1132-1134)TGG>TGT	p.W378C	CBLC_uc010ejt.2_Missense_Mutation_p.W332C	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	378	RING-type.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGGCTGCCTGGCAGGTGGGTC	0.577			NA	M		AML								4	42					0.00909568	0.00988598	0.009096	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51628303	51628303	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51628303G>A	uc002pvu.2	+	1	139	c.72G>A	c.(70-72)ACG>ACA	p.T24T	SIGLEC9_uc010yct.1_Silent_p.T24T	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	24	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACTGCTGACGATGCAGAGTT	0.617			NA											8	27					0	0	0.00308	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51629378C>A	uc002pvu.2	+	3	808	c.741C>A	c.(739-741)GAC>GAA	p.D247E	SIGLEC9_uc010yct.1_Missense_Mutation_p.D247E	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	247	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597			NA											9	36					1.33987e-11	2.34563e-11	0.008291	1	0
SIGLEC6	946	broad.mit.edu	37	19	52034735	52034735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:52034735G>T	uc002pwy.2	-	2	268	c.106C>A	c.(106-108)CCA>ACA	p.P36T	SIGLEC6_uc002pwz.2_Missense_Mutation_p.P36T|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P36T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P25T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P25T|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.P25T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	36	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGTGACTCTGGCCCCTCCAGC	0.632			NA											8	41					0.000274275	0.000331637	0.004482	1	0
VN1R4	317703	broad.mit.edu	37	19	53770558	53770558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53770558C>A	uc010ydu.1	-	1	361	c.361G>T	c.(361-363)GAG>TAG	p.E121*		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	121	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		GGGGCTTTCTCTTTAAGTTTT	0.502			NA								HNSCC(26;0.072)			6	29					5.9392e-07	8.56639e-07	0.001168	1	0
VN1R4	317703	broad.mit.edu	37	19	53770573	53770573	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53770573A>T	uc010ydu.1	-	1	346	c.346T>A	c.(346-348)TGG>AGG	p.W116R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	116	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		AGTTTTGCCCACCTGGATTTC	0.493			NA								HNSCC(26;0.072)			4	34					0	0	0.000602	0	0
ZNF525	170958	broad.mit.edu	37	19	53879127	53879127	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53879127T>C	uc010eqn.2	+	3	205	c.12T>C	c.(10-12)AAT>AAC	p.N4N	ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR	NR_003699				Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.												0						TGCTGGAGAATTATAGGAACC	0.428			NA											4	106					0	0	0.000602	0	0
NLRP12	91662	broad.mit.edu	37	19	54313203	54313203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:54313203C>A	uc002qch.3	-	3	1930	c.1710G>T	c.(1708-1710)GAG>GAT	p.E570D	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E570D|NLRP12_uc002qcj.3_Missense_Mutation_p.E570D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E570D	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	570					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCTCCTGGTCTCCTCGTTCA	0.572			NA											14	74					1.52009e-12	2.70238e-12	0.003163	1	0
LILRA1	11024	broad.mit.edu	37	19	55105928	55105928	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55105928C>A	uc002qgh.1	+	3	239	c.57C>A	c.(55-57)ACC>ACA	p.T19T	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.T19T	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	19	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GCCCCCGGACCCACGTGCAGG	0.657			NA											25	56					9.80776e-20	1.90077e-19	0.00632	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55294936	55294936	+	Splice_Site	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55294936A>T	uc002qhb.1	+	7	856	c.818_splice	c.e7-2	p.N273_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Splice_Site_p.N274_splice|KIR2DL1_uc002qgz.1_Splice_Site_p.N183_splice|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.N299_splice	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CATCTTCTACAGATGCTGCGG	0.522	GBM(72;624 1217 3963 34152 38303)		NA											10	65					0	0	0.010729	0	0
KIR2DS4	3809	broad.mit.edu	37	19	55354358	55354358	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55354358C>A	uc002qhm.1	+	6	746	c.700C>A	c.(700-702)CCA>ACA	p.P234T	KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	234	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		ACCCACTGAACCAAGCTCCAA	0.498			NA											37	171					1.02591e-13	1.88219e-13	0.010771	1	0
NLRP7	199713	broad.mit.edu	37	19	55450411	55450411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450411C>G	uc002qih.3	-	4	1852	c.1776G>C	c.(1774-1776)AAG>AAC	p.K592N	NLRP7_uc002qig.3_Missense_Mutation_p.K592N|NLRP7_uc002qii.3_Missense_Mutation_p.K592N|NLRP7_uc010esk.2_Missense_Mutation_p.K592N|NLRP7_uc010esl.2_Missense_Mutation_p.K620N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	592							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TAGAAATTTCCTTGAACGGGG	0.498			NA											7	38					0	0	0.001984	0	0
NLRP7	199713	broad.mit.edu	37	19	55450426	55450426	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450426C>A	uc002qih.3	-	4	1837	c.1761G>T	c.(1759-1761)GTG>GTT	p.V587V	NLRP7_uc002qig.3_Silent_p.V587V|NLRP7_uc002qii.3_Silent_p.V587V|NLRP7_uc010esk.2_Silent_p.V587V|NLRP7_uc010esl.2_Silent_p.V615V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	587							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ACGGGGCCACCACCACCTTCG	0.488			NA											9	40					0.000274275	0.000331637	0.004482	1	0
UBE2S	27338	broad.mit.edu	37	19	55912895	55912895	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55912895C>T	uc002qkx.1	-	4	946	c.578G>A	c.(577-579)GGT>GAT	p.G193D		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	193					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGCCATGGGACCCTCAGCCCC	0.701			NA											5	32					0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56413443	56413443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56413443C>A	uc010ygg.1	-	9	2772	c.2747G>T	c.(2746-2748)TGT>TTT	p.C916F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	916	LRR 4.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGGCCTCACACAGGAACTT	0.542			NA											7	34					1.26484e-09	2.04756e-09	0.00308	1	0
PEG3	5178	broad.mit.edu	37	19	57328461	57328461	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:57328461A>T	uc002qnu.2	-	7	1700	c.1349T>A	c.(1348-1350)ATG>AAG	p.M450K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M421K|PEG3_uc002qnv.2_Missense_Mutation_p.M450K|PEG3_uc002qnw.2_Missense_Mutation_p.M326K|PEG3_uc002qnx.2_Missense_Mutation_p.M324K|PEG3_uc010etr.2_Missense_Mutation_p.M450K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	450					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATATGGCATTGCCCCAAA	0.483			NA											19	95					0	0	0.007413	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965140	58965140	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:58965140C>T	uc002qsv.1	+	2	179	c.72C>T	c.(70-72)GCC>GCT	p.A24A	ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Silent_p.A24A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCAGAGGGCCCTGTACCGCC	0.572			NA											9	55					0	0	0.004482	0	0
NCOA1	8648	broad.mit.edu	37	2	24888641	24888641	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:24888641A>G	uc002rfk.2	+	4	371	c.113A>G	c.(112-114)CAA>CGA	p.Q38R	NCOA1_uc010eye.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfl.2_Missense_Mutation_p.Q38R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	38	Helix-loop-helix motif.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAGGGAGCAAGAAAATAAA	0.373			NA	T	PAX3	alveolar rhadomyosarcoma								6	31					0	0	0.001168	0	0
VIT	5212	broad.mit.edu	37	2	37036038	37036038	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:37036038A>T	uc002rpl.2	+	15	2034	c.1813A>T	c.(1813-1815)AAG>TAG	p.K605*	VIT_uc002rpm.2_Nonsense_Mutation_p.K583*|VIT_uc010ezv.2_Nonsense_Mutation_p.K561*|VIT_uc010ezw.2_Nonsense_Mutation_p.K562*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	590	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CAAGAAGTCCAAGCCCAACAA	0.587			NA											6	32					0	0	0.001168	0	0
ABCG8	64241	broad.mit.edu	37	2	44100965	44100965	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:44100965C>A	uc002rtq.2	+	9	1341	c.1251C>A	c.(1249-1251)CTC>CTA	p.L417L	ABCG8_uc010yoa.1_Silent_p.L416L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	417	Helical; Name=1; (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCCACCCTCCTCATCCATG	0.483			NA											14	133					4.3838e-07	6.43082e-07	0.001855	1	0
PSME4	23198	broad.mit.edu	37	2	54147481	54147481	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:54147481C>T	uc002rxp.2	-	19	2325	c.2269G>A	c.(2269-2271)GGC>AGC	p.G757S	PSME4_uc010yop.1_Missense_Mutation_p.G643S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.G132S|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	757					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCGGGTTTGCCCCAGTCCTAG	0.393			NA											10	55					0	0	0.010729	0	0
DYSF	8291	broad.mit.edu	37	2	71780291	71780291	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:71780291A>T	uc002sie.2	+	20	2279	c.1903A>T	c.(1903-1905)ACT>TCT	p.T635S	DYSF_uc010feg.2_Missense_Mutation_p.T666S|DYSF_uc010feh.2_Missense_Mutation_p.T621S|DYSF_uc002sig.3_Missense_Mutation_p.T621S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T635S|DYSF_uc010fef.2_Missense_Mutation_p.T652S|DYSF_uc010fei.2_Missense_Mutation_p.T652S|DYSF_uc010fek.2_Missense_Mutation_p.T653S|DYSF_uc010fej.2_Missense_Mutation_p.T622S|DYSF_uc010fel.2_Missense_Mutation_p.T622S|DYSF_uc010feo.2_Missense_Mutation_p.T667S|DYSF_uc010fem.2_Missense_Mutation_p.T636S|DYSF_uc010fen.2_Missense_Mutation_p.T653S|DYSF_uc002sif.2_Missense_Mutation_p.T636S	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	635	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGCCTCCACCACTCAGTACAG	0.587			NA											9	45					0	0	0.010729	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801338	80801338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:80801338G>T	uc010ysh.1	+	12	1797	c.1792G>T	c.(1792-1794)GCC>TCC	p.A598S	CTNNA2_uc010yse.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysf.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysg.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysi.1_Missense_Mutation_p.A230S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	598					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AGCCCTGAGTGCCAACGTTCC	0.488			NA											22	67					1.5548e-18	2.97967e-18	0.005443	1	0
TEKT4	150483	broad.mit.edu	37	2	95537426	95537426	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:95537426C>T	uc002stw.1	+	1	195	c.102C>T	c.(100-102)TTC>TTT	p.F34F	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	34					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CCGCCAGCTTCCGCACCTCCA	0.677			NA											6	31					0	0	0.001168	0	0
VWA3B	200403	broad.mit.edu	37	2	98732176	98732176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:98732176G>C	uc002syo.2	+	3	522	c.258G>C	c.(256-258)CAG>CAC	p.Q86H	VWA3B_uc010yvh.1_Missense_Mutation_p.S20T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.Q86H|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	86										ovary(3)|large_intestine(2)|skin(1)	6						TGTTTCCACAGCTCTACAGAG	0.458			NA											3	23					0	0	0.004672	0	0
AFF3	3899	broad.mit.edu	37	2	100210181	100210181	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:100210181C>T	uc002tag.2	-	14	2178	c.1942G>A	c.(1942-1944)GAG>AAG	p.E648K	AFF3_uc002taf.2_Missense_Mutation_p.E673K|AFF3_uc010fiq.1_Missense_Mutation_p.E648K|AFF3_uc010yvr.1_Missense_Mutation_p.E801K|AFF3_uc002tah.1_Missense_Mutation_p.E673K	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	648					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGGCGCTTCTCGCAGGTCACG	0.637			NA											6	41					0	0	0.001984	0	0
ANAPC1	64682	broad.mit.edu	37	2	112588917	112588917	+	Missense_Mutation	SNP	C	C	A	rs149309834	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:112588917C>A	uc002thi.2	-	21	2818	c.2571G>T	c.(2569-2571)ATG>ATT	p.M857I		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	857					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GATAAGGTGGCATTCCTTCAC	0.393			NA											3	34					0.004672	0.00515945	0.004672	1	0
YSK4	80122	broad.mit.edu	37	2	135779284	135779284	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:135779284C>A	uc002tue.1	-	2	169	c.138_splice	c.e2+1	p.E46_splice	YSK4_uc010fne.1_Splice_Site_p.E18_splice|YSK4_uc002tuf.1_Splice_Site_p.E46_splice|YSK4_uc010fnc.1_Splice_Site_p.E46_splice|YSK4_uc010fnd.1_Splice_Site_p.E46_splice|YSK4_uc010zbg.1_Splice_Site_p.E46_splice|YSK4_uc002tui.3_Splice_Site_p.E63_splice	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1								ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGCTCTTACCTCACTTCTG	0.348			NA											8	20					0.00307968	0.00347347	0.00308	1	0
LRP1B	53353	broad.mit.edu	37	2	140995780	140995780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:140995780C>A	uc002tvj.1	-	89	14473	c.13501G>T	c.(13501-13503)GAT>TAT	p.D4501Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4501	Cytoplasmic (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)		TGATCATGATCTACCTCATAC	0.348	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			6	35					8.12818e-05	0.000102047	0.001984	1	0
LRP1B	53353	broad.mit.edu	37	2	141625316	141625316	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141625316A>T	uc002tvj.1	-	27	5394	c.4422T>A	c.(4420-4422)GCT>GCA	p.A1474A	LRP1B_uc010fnl.1_Silent_p.A656A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1474	Extracellular (Potential).|LDL-receptor class B 12.				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)		ATAGAGACACAGCAAAGGGAT	0.433	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			7	69					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141751612	141751612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141751612C>A	uc002tvj.1	-	16	3568	c.2596G>T	c.(2596-2598)GGC>TGC	p.G866C	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	866	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G866G(1)		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)		TCATCGTCGCCATCACATTTC	0.433	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			6	37					0.00116845	0.00134655	0.001168	1	0
ZEB2	9839	broad.mit.edu	37	2	145158817	145158817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:145158817T>A	uc002tvu.2	-	7	1345	c.865A>T	c.(865-867)AAG>TAG	p.K289*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.K283*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.K260*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.K197*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.K318*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	289	C2H2-type 3.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGAAGGCCTTGCCACACTCT	0.438	Melanoma(33;1235 1264 5755 16332)		NA											16	71					0	0	0.007413	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735744	162735744	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:162735744G>T	uc002ubx.3	+	9	1236	c.1052G>T	c.(1051-1053)AGG>ATG	p.R351M	SLC4A10_uc010fpa.1_Missense_Mutation_p.R363M|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R321M|SLC4A10_uc010zcs.1_Missense_Mutation_p.R332M	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	351	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						GCGTTTGTCAGGTTGTCTCCA	0.413			NA											15	66					1.37285e-15	2.58773e-15	0.004007	1	0
SCN1A	6323	broad.mit.edu	37	2	166892600	166892600	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:166892600C>T	uc010zcz.1	-	16	3372	c.3354G>A	c.(3352-3354)ACG>ACA	p.T1118T	SCN1A_uc002udo.3_Silent_p.T998T|SCN1A_uc010fpk.2_Silent_p.T970T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAAAGTCTTCCGTGTTTAAAT	0.318			NA											20	57					0	0	0.010504	0	0
HAT1	8520	broad.mit.edu	37	2	172844191	172844191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:172844191G>T	uc002uhi.2	+	10	1083	c.1007G>T	c.(1006-1008)CGA>CTA	p.R336L	HAT1_uc010fqi.2_Missense_Mutation_p.R171L|HAT1_uc002uhj.2_Missense_Mutation_p.R251L	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	336					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAAATTCTTCGACTACTGGTA	0.353			NA											12	55					7.03913e-09	1.10569e-08	0.013537	1	0
SP3	6670	broad.mit.edu	37	2	174820498	174820498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:174820498C>A	uc002uig.2	-	4	906	c.742G>T	c.(742-744)GGT>TGT	p.G248C	SP3_uc002uie.2_Missense_Mutation_p.G180C|SP3_uc002uif.2_Missense_Mutation_p.G195C|SP3_uc010zel.1_Missense_Mutation_p.G245C	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	248					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGGGTTTGACCAGGAAAAGAT	0.458			NA											9	58					0.00621372	0.00680738	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179464146	179464146	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179464146T>G	uc010zfg.1	-	239	48894	c.48670A>C	c.(48670-48672)ATA>CTA	p.I16224L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919L|TTN_uc010zfi.1_Missense_Mutation_p.I9852L|TTN_uc010zfj.1_Missense_Mutation_p.I9727L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17151							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)			TCAAATTTTATGGGTCCCACT	0.363			NA											12	32					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179567254	179567254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179567254G>C	uc010zfg.1	-	104	26852	c.26628C>G	c.(26626-26628)AGC>AGG	p.S8876R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5537R|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9803							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)			TGTATTTCTGGCTCTCTGTCA	0.458			NA											5	173					0	0	0.001168	0	0
COL3A1	1281	broad.mit.edu	37	2	189859478	189859478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:189859478G>T	uc002uqj.1	+	20	1493	c.1376G>T	c.(1375-1377)GGA>GTA	p.G459V		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	459	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTGTTCCAGGAGCTAAAGGC	0.433			NA											5	33					0.00116845	0.00134655	0.001168	1	0
BOLL	66037	broad.mit.edu	37	2	198643703	198643703	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198643703T>C	uc002uus.2	-	3	527	c.217A>G	c.(217-219)AAA>GAA	p.K73E	BOLL_uc002uur.2_Missense_Mutation_p.K79E|BOLL_uc002uut.2_Missense_Mutation_p.K85E|BOLL_uc010zha.1_Silent_p.P7P|BOLL_uc002uuu.1_Missense_Mutation_p.K79E	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	73	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						ACTAACCCTTTGGATACTCCA	0.353			NA											6	26					0	0	0.001984	0	0
PLCL1	5334	broad.mit.edu	37	2	198949235	198949235	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198949235G>A	uc010fsp.2	+	2	1285	c.994G>A	c.(994-996)GCC>ACC	p.A332T	PLCL1_uc002uuv.3_Missense_Mutation_p.A253T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	332					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	ATATTTGGATGCCAATGATCT	0.383			NA											6	52					0	0	0.001984	0	0
SATB2	23314	broad.mit.edu	37	2	200298081	200298081	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:200298081C>G	uc002uuy.1	-	3	1143	c.326G>C	c.(325-327)AGC>ACC	p.S109T	SATB2_uc010fsq.1_Missense_Mutation_p.S109T|SATB2_uc002uuz.1_Missense_Mutation_p.S109T|SATB2_uc002uva.1_Missense_Mutation_p.S109T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	109						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCCGCAGAGCTGTGAGAATA	0.507	Colon(30;262 767 11040 24421 36230)		NA											9	28					0	0	0.004482	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446879	202446879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:202446879T>C	uc002uye.2	-	5	626	c.578A>G	c.(577-579)AAT>AGT	p.N193S	ALS2CR11_uc002uyf.2_Missense_Mutation_p.N193S|ALS2CR11_uc010fti.2_Missense_Mutation_p.N193S	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	193										large_intestine(1)|ovary(1)|skin(1)	3						TTTTTCTCTATTGTCATATTG	0.299			NA											7	65					0	0	0.00308	0	0
MDH1B	130752	broad.mit.edu	37	2	207619827	207619827	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:207619827G>A	uc002vbs.2	-	5	871	c.816C>T	c.(814-816)GCC>GCT	p.A272A	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.A272A|MDH1B_uc010fuj.2_Silent_p.A174A|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	272					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAATGCGTGGGGCATATCTCA	0.478	Pancreas(76;29 1355 28675 37177 51207)		NA											15	48					0	0	0.00499	0	0
MAP2	4133	broad.mit.edu	37	2	210559692	210559692	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:210559692A>G	uc002vde.1	+	7	3046	c.2798A>G	c.(2797-2799)AAA>AGA	p.K933R	MAP2_uc002vdc.1_Missense_Mutation_p.K933R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K929R	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	933					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGTGTTGACAAAGAAGCATCC	0.428	Pancreas(27;423 979 28787 29963)		NA											5	36					0	0	0.001168	0	0
ERBB4	2066	broad.mit.edu	37	2	212530125	212530125	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:212530125C>T	uc002veg.1	-	15	1892	c.1794G>A	c.(1792-1794)CAG>CAA	p.Q598Q	ERBB4_uc002veh.1_Silent_p.Q598Q|ERBB4_uc010zji.1_Silent_p.Q598Q|ERBB4_uc010zjj.1_Silent_p.Q598Q|ERBB4_uc010fut.1_Silent_p.Q598Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	598	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTTTGCCCCCTGTAAGCCAT	0.458			NA								TSP Lung(8;0.080)			10	35					0	0	0.006214	0	0
ABCA12	26154	broad.mit.edu	37	2	215901724	215901724	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:215901724T>A	uc002vew.2	-	8	1158	c.938A>T	c.(937-939)CAG>CTG	p.Q313L	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	313					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACAGACTTCTGGAGGGTTCT	0.418	Ovarian(66;664 1488 5121 34295)		NA											19	64					0	0	0.008871	0	0
MOGAT1	116255	broad.mit.edu	37	2	223574461	223574461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:223574461G>T	uc010fws.1	+	6	908	c.860G>T	c.(859-861)CGC>CTC	p.R287L	MOGAT1_uc010fwt.1_Missense_Mutation_p.R247L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	287					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCAGTTGGCCGCCCGATCCCT	0.502	Ovarian(93;205 1446 2385 11581 25911)		NA											22	110					4.72057e-08	7.21723e-08	0.003954	1	0
UGT1A6	54578	broad.mit.edu	37	2	234602454	234602454	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:234602454G>T	uc002vuv.3	+	1	943	c.804G>T	c.(802-804)ATG>ATT	p.M268I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Missense_Mutation_p.M1I|UGT1A6_uc010zmy.1_Missense_Mutation_p.M268I	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	268					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GGCCGGTCATGCCCAACATGG	0.428			NA											62	173					2.89935e-36	5.84972e-36	0.01441	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622111	234622111	+	Silent	SNP	G	G	T	rs147117995	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:234622111G>T	uc002vuw.2	+	1	474	c.474G>T	c.(472-474)GCG>GCT	p.A158A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.A158A	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACCTCTGCGCGGCGGTGCTGG	0.493			NA											30	89					1.68575e-08	2.62993e-08	0.007291	1	0
PRR21	643905	broad.mit.edu	37	2	240982120	240982120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:240982120G>T	uc010zod.1	-	1	280	c.280C>A	c.(280-282)CCA>ACA	p.P94T		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	94	Pro-rich.									ovary(1)|skin(1)	2						AAGGGCCGTGGGTGAAGAGGC	0.612			NA											18	24					3.99206e-14	7.36337e-14	0.007413	1	0
THAP4	51078	broad.mit.edu	37	2	242572835	242572835	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:242572835C>T	uc002wbt.2	-	2	960	c.737G>A	c.(736-738)CGA>CAA	p.R246Q		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	246							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGCCTTTCTCGGGTGTGCTT	0.547			NA											4	92					0	0	0.009096	0	0
SNRPB	6628	broad.mit.edu	37	20	2442427	2442427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:2442427G>A	uc002wfz.1	-	7	861	c.698C>T	c.(697-699)CCG>CTG	p.P233L	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.1_3'UTR|SNRPB_uc002wgb.2_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	233	Repeat-rich region.|				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1						GCGCATTCCCGGGGGAGGGGG	0.552			NA											4	61					0	0	0.001984	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682161	3682161	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:3682161C>A	uc002wja.2	-	6	1356	c.1356G>T	c.(1354-1356)CTG>CTT	p.L452L	SIGLEC1_uc002wiz.3_Silent_p.L452L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	452	Ig-like C2-type 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AGGTGGAGGCCAGGATATGAC	0.617			NA											10	38					0.000151284	0.000188216	0.001855	1	0
ANKRD5	63926	broad.mit.edu	37	20	10036234	10036234	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:10036234G>A	uc002wno.2	+	11	2650	c.2257G>A	c.(2257-2259)GAC>AAC	p.D753N	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.D753N|ANKRD5_uc010gbz.2_Missense_Mutation_p.D564N	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	753							calcium ion binding			ovary(1)|breast(1)	2						GGTGGACTTCGACGATTTTAT	0.438			NA											14	38					0	0	0.001855	0	0
PCSK2	5126	broad.mit.edu	37	20	17434598	17434598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:17434598G>T	uc002wpm.2	+	9	1417	c.1097G>T	c.(1096-1098)GGT>GTT	p.G366V	PCSK2_uc002wpl.2_Missense_Mutation_p.G347V|PCSK2_uc010zrm.1_Missense_Mutation_p.G331V	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	366	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGAGGCCGGTGTGGTGAGC	0.612			NA											13	26					4.3838e-07	6.43082e-07	0.001855	1	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29628263A>G	uc010ztl.1	+	3	207	c.175A>G	c.(175-177)ATT>GTT	p.I59V	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						TAGCTGCTTTATTAGATGCAA	0.363			NA											5	56					0	0	0.004482	0	0
TPX2	22974	broad.mit.edu	37	20	30381818	30381818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:30381818G>T	uc002wwp.1	+	14	2375	c.1677G>T	c.(1675-1677)CAG>CAT	p.Q559H	TPX2_uc010gdv.1_Missense_Mutation_p.Q595H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	559					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGAACTGCAGAAAGGGGAGG	0.338			NA											11	46					6.40141e-05	8.171e-05	0.010729	1	0
SLC32A1	140679	broad.mit.edu	37	20	37357131	37357131	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:37357131T>C	uc002xjc.2	+	2	1690	c.1427T>C	c.(1426-1428)TTT>TCT	p.F476S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	476	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCCAGCCTCTTTCACCTGCGC	0.637			NA											5	36					0	0	0.000602	0	0
ZFP64	55734	broad.mit.edu	37	20	50713933	50713933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:50713933G>A	uc002xwk.2	-	7	1304	c.955C>T	c.(955-957)CGC>TGC	p.R319C	ZFP64_uc002xwj.2_Missense_Mutation_p.R100C	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	276	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGAGATGGCGGTCCAAGTCT	0.284			NA											42	166					0	0	0.011902	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871008	51871008	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51871008A>T	uc002xwo.2	+	2	1967	c.1011A>T	c.(1009-1011)ACA>ACT	p.T337T		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	337					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ATTCAACCACAGGATCTTTTG	0.498			NA											15	80					0	0	0.00499	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872426	51872426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51872426C>A	uc002xwo.2	+	2	3385	c.2429C>A	c.(2428-2430)CCA>CAA	p.P810Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	810					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ACCCCAAAGCCAGCCTCCTCC	0.542			NA											6	62					0.00116845	0.00134655	0.001168	1	0
C20orf107	388799	broad.mit.edu	37	20	55111388	55111389	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:55111388_55111389TG>AT	uc010zzh.1	+	2	490_491	c.410_411TG>AT	c.(409-411)ATG>AAT	p.M137N	C20orf107_uc002xxz.2_Missense_Mutation_p.M137N	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	hypothetical protein LOC388799 precursor	137	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			AAAGGTGCCATGGCAACAGGCA	0.421			NA											10	40					0	0	0.004672	0	0
PCK1	5105	broad.mit.edu	37	20	56140750	56140750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:56140750A>T	uc002xyn.3	+	10	1922	c.1759A>T	c.(1759-1761)AAG>TAG	p.K587*	PCK1_uc010zzm.1_Nonsense_Mutation_p.K270*	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	587					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTCTGGGAGAAGGAGGTGGA	0.507			NA											7	20					0	0	0.00308	0	0
CHRNA4	1137	broad.mit.edu	37	20	61990903	61990903	+	Missense_Mutation	SNP	G	G	T	rs113080067	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:61990903G>T	uc002yes.2	-	2	403	c.225C>A	c.(223-225)GAC>GAA	p.D75E	CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	75	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CACCTACCACGTCAATGAGCT	0.612			NA											8	40					2.17888e-05	2.89955e-05	0.006214	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19698822	19698822	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:19698822G>T	uc002ykw.2	-	16	1879	c.1848C>A	c.(1846-1848)CTC>CTA	p.L616L		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	616	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CGTTAGTGATGAGAAGCACAG	0.458			NA											21	51					7.45023e-12	1.31093e-11	0.010504	1	0
AIRE	326	broad.mit.edu	37	21	45707006	45707006	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45707006C>T	uc002zei.2	+	3	580	c.453C>T	c.(451-453)ACC>ACT	p.T151T		NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	151					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		CAAGGGGCACCGCCAGCCCAG	0.706			NA							Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				12	31					0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45821588	45821588	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45821588C>A	uc002zet.1	+	17	2559	c.2346C>A	c.(2344-2346)GGC>GGA	p.G782G	TRPM2_uc002zeu.1_Silent_p.G782G|TRPM2_uc002zew.1_Silent_p.G782G|TRPM2_uc010gpt.1_Silent_p.G782G|TRPM2_uc002zex.1_Silent_p.G568G|TRPM2_uc002zey.1_Silent_p.G295G	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	782	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGGATGTGGGCACCCCCGCGG	0.662			NA											15	36					4.93089e-13	8.95106e-13	0.00245	1	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101879	46101879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46101879C>A	uc002zfv.2	-	1	200	c.160G>T	c.(160-162)GTG>TTG	p.V54L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	keratin associated protein 12-1	54	7.|14 X 5 AA approximate repeats.					keratin filament				skin(2)	2						GGCACGCACACAGAGGACTGG	0.662			NA											26	67					2.48779e-11	4.31134e-11	0.005443	1	0
ITGB2	3689	broad.mit.edu	37	21	46311723	46311723	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46311723C>T	uc002zgd.2	-	10	1456	c.1412_splice	c.e10+1	p.R471_splice	ITGB2_uc002zge.2_Splice_Site_p.R471_splice|ITGB2_uc002zgf.3_Splice_Site_p.R471_splice|ITGB2_uc011afl.1_Splice_Site_p.R393_splice|ITGB2_uc010gpw.2_Splice_Site_p.R414_splice|ITGB2_uc002zgg.2_Splice_Site_p.R471_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor						apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCGCCTCACCTGCAGATGC	0.677			NA											5	17					0	0	0.000602	0	0
USP18	11274	broad.mit.edu	37	22	18640461	18640461	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:18640461A>G	uc002zny.2	+	2	369	c.31A>G	c.(31-33)ATC>GTC	p.I11V		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	11					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1						CCTGAGGCAAATCTGTCAGTC	0.572			NA									OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	199					0	0	0.013726	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175104	19175104	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:19175104C>T	uc002zpb.2	-	30	4646	c.4571G>A	c.(4570-4572)AGC>AAC	p.S1524N	CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.S1503N|CLTCL1_uc011agt.1_Missense_Mutation_p.S315N|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1524	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					GAGCTCCACGCTCTGGGCCCA	0.567			NA	T	?	ALCL								6	42					0	0	0.001168	0	0
TRMT2A	27037	broad.mit.edu	37	22	20104030	20104030	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:20104030T>C	uc002zrk.1	-	3	345	c.130A>G	c.(130-132)AAA>GAA	p.K44E	TRMT2A_uc002zrl.1_Missense_Mutation_p.K44E|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.K44E|TRMT2A_uc011ahk.1_Missense_Mutation_p.K44E|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	44					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						GCGCCCTCTTTCTCCACCTCC	0.642			NA											7	40					0	0	0.001984	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150967	38150967	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:38150967T>C	uc003atr.2	+	13	5734	c.5463T>C	c.(5461-5463)TAT>TAC	p.Y1821Y	TRIOBP_uc003atu.2_Silent_p.Y1649Y|TRIOBP_uc003atv.2_Silent_p.Y108Y|TRIOBP_uc003atw.2_Silent_p.Y108Y|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.2_5'Flank	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1821	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GTCTCAAATATTACAGAGACT	0.567			NA											4	23					0	0	0.000602	0	0
PRR5	55615	broad.mit.edu	37	22	45132666	45132667	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:45132666_45132667CG>TT	uc003bfb.1	+	8	978_979	c.706_707CG>TT	c.(706-708)CGC>TTC	p.R236F	PRR5_uc003bew.1_Missense_Mutation_p.R227F|PRR5_uc003bex.1_Missense_Mutation_p.R141F|PRR5_uc010gzt.1_Missense_Mutation_p.R259F|PRR5_uc010gzu.1_Missense_Mutation_p.R200F|PRR5_uc003bey.1_Missense_Mutation_p.R227F|PRR5_uc003bez.1_Missense_Mutation_p.R141F|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R129F|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R135F	NM_181333	NP_851850	P85299	PRR5_HUMAN	proline rich 5 (renal) isoform 1	236					cell cycle					skin(1)	1		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGCCTCCTCCGCCGCTCCCGC	0.678			NA											10	78					0	0	0.004672	0	0
SRGAP3	9901	broad.mit.edu	37	3	9102045	9102045	+	Splice_Site	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:9102045T>A	uc003brf.1	-	6	1349	c.673_splice	c.e6-1	p.R225_splice	SRGAP3_uc003brg.1_Splice_Site_p.R225_splice|SRGAP3_uc003bri.1_Splice_Site|SRGAP3_uc003brk.2_Intron|SRGAP3_uc003brj.1_Splice_Site_p.R85_splice	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCCTGCCTCTGGAAGAAGAA	0.368			NA	T	RAF1	pilocytic astrocytoma								12	47					0	0	0.013537	0	0
WNT7A	7476	broad.mit.edu	37	3	13916538	13916538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:13916538C>A	uc003bye.1	-	2	509	c.204G>T	c.(202-204)ATG>ATT	p.M68I		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	68					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						CGTCCAGGCCCATTTGTGAGC	0.592			NA											9	22					0.000274275	0.000331637	0.004482	1	0
GRIP2	80852	broad.mit.edu	37	3	14564574	14564574	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:14564574G>T	uc011avi.1	-	7	790	c.790C>A	c.(790-792)CAT>AAT	p.H264N	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	167	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CCATCTTCATGGGCACCTCCT	0.602			NA											18	37					1.67942e-08	2.626e-08	0.006122	1	0
SUSD5	26032	broad.mit.edu	37	3	33249344	33249344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:33249344G>T	uc003cfo.1	-	3	783	c.365C>A	c.(364-366)CCA>CAA	p.P122Q		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	122	Extracellular (Potential).|Link.				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						ACCAGGAACTGGGTTGCTCTC	0.458			NA											12	52					1.49906e-05	2.0183e-05	0.00245	1	0
DNAH12	201625	broad.mit.edu	37	3	57496642	57496642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:57496642C>A	uc003dit.2	-	5	525	c.344G>T	c.(343-345)TGG>TTG	p.W115L	DNAH12_uc003diu.2_Missense_Mutation_p.W115L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	115	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						GTGATCCAGCCATTCCTGCTG	0.353			NA											7	32					7.48243e-07	1.07248e-06	0.006214	1	0
OR5K3	403277	broad.mit.edu	37	3	98109761	98109761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:98109761C>G	uc011bgw.1	+	1	252	c.252C>G	c.(250-252)AAC>AAG	p.N84K		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTTAGAGAACTTCTTTTCTG	0.403			NA											40	188					0	0	0.011902	0	0
POLQ	10721	broad.mit.edu	37	3	121207919	121207919	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:121207919T>A	uc003eee.3	-	16	3988	c.3859A>T	c.(3859-3861)AAT>TAT	p.N1287Y	POLQ_uc003eed.2_Missense_Mutation_p.N459Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1287					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)		CTAGAAATATTTAGAAAATTC	0.348	Pancreas(152;907 1925 26081 31236 36904)		NA						DNA_polymerases_(catalytic_subunits)					21	56					0	0	0.012319	0	0
Unknown	0	broad.mit.edu	37	3	129130082	129130082	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:129130082C>G	uc003emg.2	-	5	1117	c.954G>C	c.(952-954)ACG>ACC	p.T318T		NM_207307	NP_997190			hypothetical protein LOC90288												NA						TCTCCATCTGCGTGTCGACTG	0.622			NA											6	11					0	0	0.001168	0	0
COL29A1	256076	broad.mit.edu	37	3	130174340	130174340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:130174340G>T	uc010htj.1	+	37	7114	c.6620G>T	c.(6619-6621)GGC>GTC	p.G2207V	COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.G246V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	collagen, type XXIX, alpha 1	2207	Nonhelical region.				axon guidance|cell adhesion	collagen					0						GGAGGTAATGGCTTCATTGGC	0.358			NA											5	28					5.9392e-07	8.56639e-07	0.001168	1	0
ACAD11	84129	broad.mit.edu	37	3	132294735	132294735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132294735G>T	uc003eov.3	-	17	2262	c.1882C>A	c.(1882-1884)CTT>ATT	p.L628I		NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	628						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						CCAGGTCCAAGGCGGCCTTGG	0.478			NA											10	76					1.58986e-06	2.25067e-06	0.008291	1	0
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132440852C>T	uc003epe.1	-	1	425	c.348G>A	c.(346-348)GAG>GAA	p.E116E	NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	116	Potential.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CCAGCTTGGCCTCGCGGCGGC	0.667			NA											9	33					0	0	0.006214	0	0
ZIC4	84107	broad.mit.edu	37	3	147120558	147120558	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:147120558C>A	uc003ewd.1	-	2	300	c.27G>T	c.(25-27)ATG>ATT	p.M9I	ZIC4_uc011bno.1_Missense_Mutation_p.M59I	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	9						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						ATCGTTTCCTCATCACCAAGG	0.353			NA											18	40					1.64113e-05	2.20527e-05	0.010504	1	0
CPB1	1360	broad.mit.edu	37	3	148558715	148558715	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:148558715A>T	uc003ewl.2	+	5	450	c.427A>T	c.(427-429)AGT>TGT	p.S143C		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	143					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATCTCTCGCAGTGTTATCGG	0.438			NA											10	39					0	0	0.008291	0	0
MED12L	116931	broad.mit.edu	37	3	150876565	150876565	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:150876565C>A	uc003eyp.2	+	6	854	c.816C>A	c.(814-816)CTC>CTA	p.L272L	MED12L_uc011bnz.1_Silent_p.L272L|MED12L_uc003eym.1_Silent_p.L272L|MED12L_uc003eyn.2_Silent_p.L272L|MED12L_uc003eyo.2_Silent_p.L272L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	272					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTAAACTCTTGCTACCAC	0.383			NA											8	15					0.00448238	0.00501444	0.004482	1	0
GPR149	344758	broad.mit.edu	37	3	154147332	154147333	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:154147332_154147333GG>TT	uc003faa.2	-	1	172_173	c.72_73CC>AA	c.(70-75)GACCTT>GAAATT	p.24_25DL>EI		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	24_25	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGATTTAAAAGGTCCGTAGAAT	0.371			NA											4	33					0	0	0.004672	0	0
SHOX2	6474	broad.mit.edu	37	3	157816033	157816033	+	Missense_Mutation	SNP	G	G	T	rs145675724		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:157816033G>T	uc003fbr.2	-	5	918	c.779C>A	c.(778-780)GCG>GAG	p.A260E	SHOX2_uc003fbs.2_Missense_Mutation_p.A284E|SHOX2_uc010hvw.2_Missense_Mutation_p.A248E	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	260					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTGGTGGTGCGCGTGCGCCAC	0.637			NA											14	45					9.31168e-06	1.27365e-05	0.001855	1	0
BCHE	590	broad.mit.edu	37	3	165547336	165547336	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:165547336C>T	uc003fem.3	-	2	1646	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	496					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CACCGTTTCACTATGGATCTA	0.393			NA											7	38					0	0	0.00308	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506983	167506983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:167506983G>T	uc003ffa.3	+	2	265	c.67G>T	c.(67-69)GAG>TAG	p.E23*	SERPINI1_uc003ffb.3_Nonsense_Mutation_p.E23*	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	23					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						CACTTTCCCTGAGGAAGCCAT	0.413			NA											12	39					1.05317e-09	1.71296e-09	0.00245	1	0
LRRC34	151827	broad.mit.edu	37	3	169525463	169525463	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:169525463T>C	uc003ffx.2	-	3	268	c.253A>G	c.(253-255)AAC>GAC	p.N85D	LRRC34_uc003ffy.2_Missense_Mutation_p.N85D|LRRC34_uc011bpn.1_Missense_Mutation_p.N85D|LRRC34_uc003ffz.2_Missense_Mutation_p.N37D|LRRC34_uc003fga.3_Missense_Mutation_p.N37D	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	85											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGCGATTGTTACCAGCAATG	0.289			NA											14	23					0	0	0.007413	0	0
TP63	8626	broad.mit.edu	37	3	189526191	189526191	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:189526191C>A	uc003fry.2	+	4	544	c.455C>A	c.(454-456)CCC>CAC	p.P152H	TP63_uc003frx.2_Missense_Mutation_p.P152H|TP63_uc003frz.2_Missense_Mutation_p.P152H|TP63_uc010hzc.1_Missense_Mutation_p.P152H|TP63_uc003fsa.2_Missense_Mutation_p.P58H|TP63_uc003fsb.2_Missense_Mutation_p.P58H|TP63_uc003fsc.2_Missense_Mutation_p.P58H|TP63_uc003fsd.2_Missense_Mutation_p.P58H|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P33H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	152					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TACGCACAGCCCAGCTCCACC	0.622			NA							Hay-Wells_syndrome	HNSCC(45;0.13)			17	53					0.00498961	0.00550136	0.00499	1	0
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190030679C>T	uc003fsh.2	-	2	590	c.370G>A	c.(370-372)GCG>ACG	p.A124T		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	124	Helical; (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458			NA											25	94					0	0	0.00333	0	0
CLDN16	10686	broad.mit.edu	37	3	190120208	190120208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190120208C>T	uc003fsi.2	+	2	475	c.407C>T	c.(406-408)TCC>TTC	p.S136F	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	136	Extracellular (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GAGTACGATTCCATACTTGCG	0.483			NA											8	57					0	0	0.006214	0	0
SENP5	205564	broad.mit.edu	37	3	196612328	196612328	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:196612328G>T	uc003fwz.3	+	2	525	c.276G>T	c.(274-276)TTG>TTT	p.L92F	SENP5_uc011bty.1_Missense_Mutation_p.L92F	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	92					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTAGTACTTTGTCCTCTAAAG	0.408	Ovarian(47;891 1095 11174 13858 51271)		NA											11	39					2.68362e-12	4.75858e-12	0.013537	1	0
FYTTD1	84248	broad.mit.edu	37	3	197483313	197483313	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:197483313G>C	uc003fyi.2	+	2	339	c.120G>C	c.(118-120)TTG>TTC	p.L40F	FYTTD1_uc011bui.1_Missense_Mutation_p.L14F|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'UTR	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	40	UAP56-binding motif.				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TCATCAAGTTGAATCGAAAGG	0.383			NA											5	20					0	0	0.000602	0	0
HGFAC	3083	broad.mit.edu	37	4	3444599	3444599	+	Silent	SNP	G	G	A	rs140087184	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:3444599G>A	uc003ghc.2	+	2	261	c.258G>A	c.(256-258)CCG>CCA	p.P86P	HGFAC_uc010icw.2_Silent_p.P86P	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	86					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCCGCCCCCGCCCAGGGCAG	0.667			NA											12	22					0	0	0.001855	0	0
OTOP1	133060	broad.mit.edu	37	4	4199745	4199745	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:4199745G>T	uc003ghp.1	-	5	846	c.816C>A	c.(814-816)CCC>CCA	p.P272P		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	272	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTATGTTGAAGGGGTAGAGGT	0.532			NA											9	36					1.76689e-08	2.74407e-08	0.006214	1	0
KIAA0232	9778	broad.mit.edu	37	4	6865538	6865538	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:6865538A>G	uc003gjr.3	+	7	3892	c.3429A>G	c.(3427-3429)ATA>ATG	p.I1143M	KIAA0232_uc003gjq.3_Missense_Mutation_p.I1143M	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1143							ATP binding			ovary(2)	2						AAGTTGATATATTTGAAGATC	0.418			NA											9	24					0	0	0.006214	0	0
BOD1L	259282	broad.mit.edu	37	4	13601510	13601510	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:13601510C>A	uc003gmz.1	-	10	7131	c.7014G>T	c.(7012-7014)ATG>ATT	p.M2338I	BOD1L_uc010idr.1_Missense_Mutation_p.M1675I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2338							DNA binding			ovary(5)|breast(1)	6						CGGAAATTGGCATACATTCTG	0.512			NA											3	9					0.004672	0.00515945	0.004672	1	0
GBA3	57733	broad.mit.edu	37	4	22749528	22749528	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:22749528G>C	uc003gqp.3	+	3	987	c.896G>C	c.(895-897)GGC>GCC	p.G299A	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G300A	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	299					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						ATGATCAAAGGCACTGCTGAT	0.408			NA											3	15					0	0	0.009096	0	0
ATP10D	57205	broad.mit.edu	37	4	47514733	47514733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:47514733C>T	uc003gxk.1	+	2	340	c.176C>T	c.(175-177)CCC>CTC	p.P59L	ATP10D_uc003gxj.3_Missense_Mutation_p.P59L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	59	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CACATCCAGCCCTTCAAGGAT	0.473			NA											11	28					0	0	0.013537	0	0
SPATA18	132671	broad.mit.edu	37	4	52943004	52943004	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:52943004G>C	uc003gzl.2	+	7	1096	c.818G>C	c.(817-819)AGA>ACA	p.R273T	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R241T|SPATA18_uc003gzk.1_Missense_Mutation_p.R273T	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	273	Ser-rich.				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)			AGCCGCAGCAGATCTGCCAGC	0.632			NA											4	25					0	0	0.009096	0	0
FIP1L1	81608	broad.mit.edu	37	4	54319267	54319267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:54319267G>T	uc003gzy.2	+	16	1652	c.1466G>T	c.(1465-1467)CGT>CTT	p.R489L	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.R483L|FIP1L1_uc003gzz.2_Missense_Mutation_p.R415L|FIP1L1_uc003hab.2_Missense_Mutation_p.R454L|FIP1L1_uc003hac.2_Missense_Mutation_p.R243L|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.V74L|FIP1L1_uc003hae.2_Missense_Mutation_p.V74L	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	489	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAGGGAGCGTGATCACAGT	0.259			NA	T	PDGFRA	idiopathic hypereosinophilic syndrome								8	21					0.00621372	0.00680738	0.006214	1	0
KDR	3791	broad.mit.edu	37	4	55979605	55979605	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:55979605G>T	uc003has.2	-	7	1144	c.842C>A	c.(841-843)TCT>TAT	p.S281Y	KDR_uc003hat.1_Missense_Mutation_p.S281Y|KDR_uc011bzx.1_Missense_Mutation_p.S281Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	281	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACTCCCAGACTGGGTTTT	0.423			NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			7	35					8.12818e-05	0.000102047	0.001984	1	0
LPHN3	23284	broad.mit.edu	37	4	62903549	62903549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:62903549C>A	uc010ihh.2	+	21	3661	c.3488C>A	c.(3487-3489)CCT>CAT	p.P1163H	LPHN3_uc003hcq.3_Missense_Mutation_p.P1163H|LPHN3_uc003hct.2_Missense_Mutation_p.P547H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1141	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TCTCGAACTCCTGGACGCTAC	0.418			NA											7	50					8.12818e-05	0.000102047	0.001984	1	0
UGT2A3	79799	broad.mit.edu	37	4	69795685	69795685	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:69795685G>C	uc003hef.2	-	6	1461	c.1430C>G	c.(1429-1431)GCT>GGT	p.A477G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	477	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GTCATGGGCAGCTGATCGCAG	0.483			NA											32	72					0	0	0.012213	0	0
UGT2B10	7365	broad.mit.edu	37	4	69879852	69879852	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:69879852C>G	uc011cao.1	-	6	913	c.777G>C	c.(775-777)CAG>CAC	p.Q259H	UGT2B10_uc011can.1_Missense_Mutation_p.Q175H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	296					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						CTCCAGAGCTCTGTACAAACT	0.418	Melanoma(133;755 1763 25578 26334 46021)		NA											20	93					0	0	0.008871	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316219	72316219	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:72316219T>A	uc003hfy.2	+	10	1284	c.1167T>A	c.(1165-1167)ATT>ATA	p.I389I	SLC4A4_uc010iic.2_Silent_p.I389I|SLC4A4_uc010iib.2_Silent_p.I389I|SLC4A4_uc003hfz.2_Silent_p.I389I|SLC4A4_uc003hgc.3_Silent_p.I345I|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Silent_p.I267I|SLC4A4_uc003hgb.3_Silent_p.I345I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	389	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATCCAGCAATTAGGATAGAGC	0.433			NA											5	19					0	0	0.001168	0	0
RASSF6	166824	broad.mit.edu	37	4	74453587	74453587	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:74453587G>C	uc003hhd.1	-	5	571	c.448C>G	c.(448-450)CCT>GCT	p.P150A	RASSF6_uc003hhc.1_Missense_Mutation_p.P118A|RASSF6_uc010iik.1_Missense_Mutation_p.P118A|RASSF6_uc010iil.1_Missense_Mutation_p.P106A	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	150					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCAGACATAGGAATCTGGGTC	0.373			NA											11	33					0	0	0.013537	0	0
G3BP2	9908	broad.mit.edu	37	4	76581018	76581018	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:76581018C>A	uc003hir.2	-	6	644	c.479G>T	c.(478-480)AGA>ATA	p.R160I	G3BP2_uc003his.2_Missense_Mutation_p.R160I|G3BP2_uc003hit.2_Missense_Mutation_p.R160I	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	160	Glu-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGATGGTTGTCTTTCTTCTTG	0.363			NA											9	36					0.00621372	0.00680738	0.006214	1	0
FRAS1	80144	broad.mit.edu	37	4	79205600	79205600	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79205600G>C	uc003hlb.2	+	13	1737	c.1297G>C	c.(1297-1299)GAC>CAC	p.D433H	FRAS1_uc003hkw.2_Missense_Mutation_p.D433H|FRAS1_uc003hky.1_Missense_Mutation_p.D137H|FRAS1_uc003hkz.2_Missense_Mutation_p.D137H|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	433	FU 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCAGTCTCCAGACCACTGTGA	0.458			NA											47	143					0	0	0.01441	0	0
FRAS1	80144	broad.mit.edu	37	4	79396752	79396752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79396752G>T	uc003hlb.2	+	54	8283	c.7843G>T	c.(7843-7845)GCT>TCT	p.A2615S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2610	Calx-beta 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGTAGAGTATGCTGGCCAGGT	0.577			NA											24	46					3.96558e-24	7.84e-24	0.004656	1	0
UNC5C	8633	broad.mit.edu	37	4	96091391	96091391	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96091391G>T	uc003htp.1	-	15	2698	c.2544C>A	c.(2542-2544)ATC>ATA	p.I848I	uc003hto.2_5'Flank	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	848	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTGCCGGATAGGGAGAG	0.592			NA											35	99					1.47244e-24	2.92787e-24	0.00623	1	0
PDHA2	5161	broad.mit.edu	37	4	96761915	96761915	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96761915C>A	uc003htr.3	+	1	677	c.614C>A	c.(613-615)GCT>GAT	p.A205D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	205					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATAGCCGAAGCTTTCAATATG	0.458			NA											10	41					7.48243e-07	1.07248e-06	0.006214	1	0
ADH1B	125	broad.mit.edu	37	4	100237122	100237122	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:100237122A>T	uc003hus.3	-	5	584	c.500T>A	c.(499-501)CTG>CAG	p.L167Q	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.L127Q|ADH1B_uc011ceh.1_Missense_Mutation_p.L12Q|ADH1B_uc011cei.1_Missense_Mutation_p.L127Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	167					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTTCTCCAGGGGCGAGGC	0.522			NA											8	81					0	0	0.00308	0	0
COL25A1	84570	broad.mit.edu	37	4	109769934	109769934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:109769934G>T	uc003hze.1	-	26	1946	c.1415C>A	c.(1414-1416)CCA>CAA	p.P472Q	COL25A1_uc003hzg.2_Missense_Mutation_p.P472Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P230Q	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	472	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCCATTCCTGGGATTCCTGG	0.353			NA											7	29					2.74318e-10	4.56975e-10	0.006214	1	0
ANK2	287	broad.mit.edu	37	4	113970941	113970941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:113970941T>A	uc003ibe.3	+	1	157	c.57T>A	c.(55-57)AGT>AGA	p.S19R	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Missense_Mutation_p.S19R|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S19R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	19					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAACGGCAGTAGTCAGAGGA	0.338			NA											4	21					0	0	0.009096	0	0
ANK2	287	broad.mit.edu	37	4	114254230	114254230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:114254230C>A	uc003ibe.3	+	29	3345	c.3245C>A	c.(3244-3246)CCT>CAT	p.P1082H	ANK2_uc003ibd.3_Missense_Mutation_p.P1073H|ANK2_uc003ibf.3_Missense_Mutation_p.P1082H|ANK2_uc011cgc.1_Missense_Mutation_p.P258H|ANK2_uc003ibg.3_Missense_Mutation_p.P77H|ANK2_uc003ibc.2_Missense_Mutation_p.P1058H|ANK2_uc011cgb.1_Missense_Mutation_p.P1097H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1049	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGAGATCCCTCACTTTGCG	0.507			NA											21	46					1.96292e-10	3.28587e-10	0.010504	1	0
ANKRD50	57182	broad.mit.edu	37	4	125591053	125591053	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:125591053T>C	uc003ifg.3	-	3	3645	c.3379A>G	c.(3379-3381)AAA>GAA	p.K1127E	ANKRD50_uc011cgo.1_Missense_Mutation_p.K948E|ANKRD50_uc010inw.2_Missense_Mutation_p.K1127E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1127	Ser-rich.									central_nervous_system(1)	1						GACTGCACTTTTGAAGACAAT	0.398			NA											6	74					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126337697	126337697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:126337697G>T	uc003ifj.3	+	6	6938	c.6938G>T	c.(6937-6939)AGT>ATT	p.S2313I	FAT4_uc011cgp.1_Missense_Mutation_p.S611I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2313	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCTCAGCCAGTGGAGAACTT	0.433			NA											10	82					4.68919e-08	7.18522e-08	0.008291	1	0
PCDH18	54510	broad.mit.edu	37	4	138442469	138442469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:138442469G>A	uc003ihe.3	-	4	3509	c.3122C>T	c.(3121-3123)CCC>CTC	p.P1041L	PCDH18_uc003ihf.3_Missense_Mutation_p.P1033L|PCDH18_uc011cgz.1_Missense_Mutation_p.P252L|PCDH18_uc003ihg.3_Missense_Mutation_p.P820L|PCDH18_uc011cha.1_Missense_Mutation_p.P221L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1041	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GGCTGGCAAGGGTCCCTTCCT	0.577			NA											5	39					0	0	0.000602	0	0
FGA	2243	broad.mit.edu	37	4	155505732	155505732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:155505732G>T	uc003iod.1	-	6	2203	c.2145C>A	c.(2143-2145)CAC>CAA	p.H715Q		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	715	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGTTAGTAAGTGGAGGTAGT	0.502	NSCLC(143;340 1922 20892 22370 48145)		NA											19	85					1.33834e-09	2.15638e-09	0.007413	1	0
ANP32C	23520	broad.mit.edu	37	4	165118411	165118411	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:165118411G>T	uc011cjk.1	-	1	453	c.453C>A	c.(451-453)GCC>GCA	p.A151A	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	151											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CTGAGTAAGGGGCCTCCTTGT	0.498			NA											16	54					2.23348e-06	3.12961e-06	0.004007	1	0
GK3P	2713	broad.mit.edu	37	4	166200437	166200437	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:166200437A>T	uc003ird.3	-	1	739	c.361T>A	c.(361-363)TCT>ACT	p.S121T	KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	NM_000167	NP_000158			glycerol kinase isoform b												0						TCAACGGTAGACTGTGTTCTT	0.443			NA											12	187					0	0	0.013537	0	0
CPE	1363	broad.mit.edu	37	4	166405732	166405732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:166405732G>T	uc003irg.3	+	5	1226	c.949G>T	c.(949-951)GGT>TGT	p.G317C		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	317					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACCAACGGTGGTGCTTGGTA	0.463			NA											35	179					1.36615e-20	2.67019e-20	0.013726	1	0
ADAM29	11086	broad.mit.edu	37	4	175898230	175898230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:175898230G>T	uc003iuc.2	+	5	2224	c.1554G>T	c.(1552-1554)GAG>GAT	p.E518D	ADAM29_uc003iud.2_Missense_Mutation_p.E518D|ADAM29_uc010irr.2_Missense_Mutation_p.E518D|ADAM29_uc011cki.1_Missense_Mutation_p.E518D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	518	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGCAAGTGAGACTTGCTACA	0.433	Ovarian(140;1727 1835 21805 25838 41440)		NA											11	46					1.08611e-07	1.63869e-07	0.010729	1	0
NEIL3	55247	broad.mit.edu	37	4	178243616	178243616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:178243616G>T	uc003iut.2	+	2	277	c.160G>T	c.(160-162)GCT>TCT	p.A54S	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	54					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCACTAGGCTGCTGCACTGAA	0.378			NA						BER_DNA_glycosylases					15	85					3.45872e-05	4.55862e-05	0.004007	1	0
KLKB1	3818	broad.mit.edu	37	4	187179309	187179309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:187179309G>T	uc003iyy.2	+	15	1931	c.1860G>T	c.(1858-1860)TGG>TGT	p.W620C	KLKB1_uc011clc.1_Missense_Mutation_p.W418C|KLKB1_uc011cld.1_3'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	620	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACATGGACTGGATTTTAGAGA	0.502			NA											12	38					7.03913e-09	1.10569e-08	0.013537	1	0
ADCY2	108	broad.mit.edu	37	5	7826866	7826866	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:7826866T>A	uc003jdz.1	+	25	3225	c.3158T>A	c.(3157-3159)CTC>CAC	p.L1053H	ADCY2_uc011cmo.1_Missense_Mutation_p.L873H|ADCY2_uc010itm.1_Missense_Mutation_p.L249H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	1053	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CTGCAGACCCTCGGATACACG	0.453			NA											6	42					0	0	0.001984	0	0
CTNND2	1501	broad.mit.edu	37	5	11082891	11082891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:11082891C>T	uc003jfa.1	-	16	2850	c.2705G>A	c.(2704-2706)CGA>CAA	p.R902Q	CTNND2_uc010itt.2_Missense_Mutation_p.R811Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R565Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R469Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R494Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	902	ARM 8.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ATTGTCTATTCGGAGCAGCTC	0.547			NA											4	58					0	0	0.009096	0	0
PRDM9	56979	broad.mit.edu	37	5	23527018	23527018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:23527018C>T	uc003jgo.2	+	11	2003	c.1821C>T	c.(1819-1821)CCC>CCT	p.P607P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	607					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGGAGAAGCCCTATGTCTGCA	0.607			NA								HNSCC(3;0.000094)			7	88					0	0	0.004482	0	0
CDH10	1008	broad.mit.edu	37	5	24509888	24509888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:24509888A>T	uc003jgr.1	-	7	1375	c.1043T>A	c.(1042-1044)GTC>GAC	p.V348D	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	348	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGCTTCGACTTTCAGAGT	0.378			NA								HNSCC(23;0.051)			4	36					0	0	0.000602	0	0
CDH9	1007	broad.mit.edu	37	5	26881513	26881513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:26881513C>A	uc003jgs.1	-	12	2271	c.2102G>T	c.(2101-2103)AGG>ATG	p.R701M	CDH9_uc011cnv.1_Missense_Mutation_p.R294M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	701	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CACAGTCCTCCTTATCTGAAA	0.408	Melanoma(8;187 585 15745 40864 52829)		NA											49	60					6.17242e-35	1.2417e-34	0.01441	1	0
CDH6	1004	broad.mit.edu	37	5	31302382	31302382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:31302382G>T	uc003jhe.1	+	6	1302	c.976G>T	c.(976-978)GAA>TAA	p.E326*	CDH6_uc003jhd.1_Nonsense_Mutation_p.E326*	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	326	Cadherin 3.|Extracellular (Potential).				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						GGAAACCCAGGAAGGGATTAT	0.453			NA											5	47					0.000602214	0.000707037	0.000602	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:33549375G>T	uc003jia.1	-	21	4402	c.4239C>A	c.(4237-4239)CCC>CCA	p.P1413P	ADAMTS12_uc010iuq.1_Silent_p.P1328P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1413	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGCTCAATGGGGGAGGAATGC	0.612			NA								HNSCC(64;0.19)			14	87					1.52009e-12	2.70238e-12	0.003163	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33614446	33614446	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:33614446A>G	uc003jia.1	-	16	2587	c.2424T>C	c.(2422-2424)TAT>TAC	p.Y808Y	ADAMTS12_uc010iuq.1_Silent_p.Y723Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	808	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTGTGTACTCATACTTGATGC	0.468			NA								HNSCC(64;0.19)			4	46					0	0	0.009096	0	0
SPEF2	79925	broad.mit.edu	37	5	35727880	35727880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:35727880G>T	uc003jjo.2	+	21	3129	c.3018G>T	c.(3016-3018)AAG>AAT	p.K1006N	SPEF2_uc003jjp.1_Missense_Mutation_p.K492N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1006					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)			AGCCACCTAAGCCAGGATCAG	0.428			NA											18	60					0.00152264	0.0017518	0.010504	1	0
UGT3A2	167127	broad.mit.edu	37	5	36052038	36052038	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:36052038G>A	uc003jjz.1	-	3	338	c.245C>T	c.(244-246)CCT>CTT	p.P82L	UGT3A2_uc011cos.1_Missense_Mutation_p.P48L|UGT3A2_uc011cot.1_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	82	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATCTTCAGGTGCAAGCCA	0.294			NA											20	37					0	0	0.012319	0	0
C5orf30	90355	broad.mit.edu	37	5	102611912	102611912	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:102611912G>A	uc003kog.1	+	3	561	c.292G>A	c.(292-294)GCA>ACA	p.A98T	C5orf30_uc003koh.1_Missense_Mutation_p.A98T	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	hypothetical protein LOC90355	98											0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		ACAGCTAGATGCAGGACTTGC	0.527			NA											6	24					0	0	0.001168	0	0
WDR36	134430	broad.mit.edu	37	5	110438058	110438058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:110438058C>G	uc003kpd.2	+	6	842	c.725C>G	c.(724-726)ACA>AGA	p.T242R	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	242	WD 2.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCTATATACATTTCCAGGA	0.303			NA											5	40					0	0	0.000602	0	0
KCNN2	3781	broad.mit.edu	37	5	113698508	113698508	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:113698508G>A	uc003kqo.2	+	1	493	c.36G>A	c.(34-36)CGG>CGA	p.R12R		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	12						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCGTCATGCGGCCGCTCAGCA	0.597			NA											4	18					0	0	0.009096	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166634	140166634	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140166634G>C	uc003lhb.2	+	1	759	c.759G>C	c.(757-759)GAG>GAC	p.E253D	PCDHA1_uc003lha.2_Missense_Mutation_p.E253D|PCDHA1_uc003lgz.2_Missense_Mutation_p.E253D	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	253	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGTTAGAGACTACAGCAA	0.468			NA											9	56					0	0	0.008291	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182910	140182910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140182910C>A	uc003lhf.2	+	1	2128	c.2128C>A	c.(2128-2130)CTG>ATG	p.L710M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L710M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	710	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGTCTGTTGGTGCT	0.657			NA											9	99					0.000442599	0.000527744	0.006214	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202993	140202993	+	Missense_Mutation	SNP	G	G	A	rs143450009		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140202993G>A	uc003lhl.2	+	1	1633	c.1633G>A	c.(1633-1635)GGC>AGC	p.G545S	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_Missense_Mutation_p.G545S|PCDHA5_uc003lhj.1_Missense_Mutation_p.G545S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	545	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCTCTGGGCAGCAACGT	0.701			NA											11	73					0	0	0.001855	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723874	140723874	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140723874C>A	uc003ljm.1	+	1	274	c.274C>A	c.(274-276)CGG>AGG	p.R92R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.R92R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	92	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGATAGACCGGGAGGAGCT	0.498			NA											10	46					0.00621372	0.00680738	0.006214	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140763824	140763824	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140763824C>T	uc003lka.1	+	1	1358	c.1358C>T	c.(1357-1359)CCC>CTC	p.P453L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.P453L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	453	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCTTCCCCCACTCATCC	0.527			NA											6	38					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150901610	150901610	+	Missense_Mutation	SNP	G	G	T	rs142141788	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:150901610G>T	uc003lue.3	-	18	10557	c.10544C>A	c.(10543-10545)ACG>AAG	p.T3515K	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T208K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3515	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGACAGACGTCAAAGACGA	0.562			NA											5	9					3.59834e-05	4.69764e-05	0.001168	1	0
GLRA1	2741	broad.mit.edu	37	5	151239524	151239524	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:151239524G>T	uc003lut.2	-	4	585	c.298C>A	c.(298-300)CGC>AGC	p.R100S	GLRA1_uc003lur.2_Missense_Mutation_p.R100S|GLRA1_uc003lus.2_Missense_Mutation_p.R17S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	100	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TAGGCCAGGCGGGGGTCGTTC	0.522			NA											10	44					2.17888e-05	2.89955e-05	0.006214	1	0
RANBP17	64901	broad.mit.edu	37	5	170341170	170341170	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:170341170G>T	uc003mba.2	+	8	777	c.761_splice	c.e8-1	p.I254_splice	RANBP17_uc003max.1_Splice_Site|RANBP17_uc003may.1_Splice_Site|RANBP17_uc003maz.1_Splice_Site|RANBP17_uc010jjr.1_Splice_Site	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17						mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTTCCCAGTTTTCCTGGA	0.333			NA	T	TRD@	ALL								3	32					0.00024832	0.000303453	0.009096	1	0
STC2	8614	broad.mit.edu	37	5	172745171	172745171	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:172745171C>T	uc003mco.1	-	4	1898	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	STC2_uc003mcn.1_Silent_p.Q111Q	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	196					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTGCTCACACTGAACCTGCA	0.607			NA											11	13					0	0	0.010729	0	0
CDHR2	54825	broad.mit.edu	37	5	176017662	176017663	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:176017662_176017663CA>AT	uc003mem.1	+	28	3579_3580	c.3513_3514CA>AT	c.(3511-3516)ACCATG>ACATTG	p.M1172L	CDHR2_uc003men.1_Missense_Mutation_p.M1172L	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1172	Helical; (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGATCATGACCATGGCCTTCGT	0.584			NA											4	45					0	0	0.004672	0	0
FLT4	2324	broad.mit.edu	37	5	180057088	180057088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:180057088C>T	uc003mma.3	-	5	610	c.531G>A	c.(529-531)TGG>TGA	p.W177*	FLT4_uc003mlz.3_Nonsense_Mutation_p.W177*|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Nonsense_Mutation_p.W177*|FLT4_uc011dgz.1_Nonsense_Mutation_p.W177*|FLT4_uc011dha.1_Missense_Mutation_p.G161D	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	177	Ig-like C2-type 2.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCGTCTGGCCACAGCACCG	0.672	Colon(97;1075 1466 27033 27547 35871)		NA							Congenital_Hereditary_Lymphedema				6	33					0	0	0.001984	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327735	28327735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:28327735G>T	uc003nle.3	+	2	588	c.372G>T	c.(370-372)TTG>TTT	p.L124F	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L124F|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	124	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						TGGAGTATTTGGAGAGGCAGC	0.582			NA											6	27					9.70103e-10	1.58912e-09	0.008291	1	0
OR10C1	442194	broad.mit.edu	37	6	29408311	29408311	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29408311C>A	uc011dlp.1	+	1	519	c.519C>A	c.(517-519)ATC>ATA	p.I173I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCAATACCATCCCGCAGTTCT	0.587			NA											39	69					1.04594e-18	2.02137e-18	0.00623	1	0
OR2H1	26716	broad.mit.edu	37	6	29429607	29429607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29429607C>A	uc003nmi.2	+	3	504	c.61C>A	c.(61-63)CTG>ATG	p.L21M	OR2H1_uc003nmj.1_Missense_Mutation_p.L21M|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACACCCAGCACTGGAAAGGAC	0.537			NA											16	155					1.45105e-14	2.69817e-14	0.006122	1	0
PACSIN1	29993	broad.mit.edu	37	6	34497300	34497300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:34497300G>T	uc003ojo.2	+	5	789	c.583G>T	c.(583-585)GTG>TTG	p.V195L	PACSIN1_uc003ojp.2_Missense_Mutation_p.V195L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	195	Potential.				endocytosis		protein kinase activity				0						GCAGGACAAAGTGGACAAGTG	0.587			NA											15	32					3.45872e-05	4.55862e-05	0.004007	1	0
C6orf89	221477	broad.mit.edu	37	6	36839662	36839662	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:36839662G>T	uc003omv.2	+	1	17	c.-649G>T	c.(-651--647)GAGGA>GATGA		PPIL1_uc003omu.2_Intron			Q6UWU4	CF089_HUMAN	SubName: Full=Chromosome 6 open reading frame 89; SubName: Full=Chromosome 6 open reading frame 89, isoform CRA_a;							integral to membrane				ovary(1)	1						CAGAGGGAGAGGACAACAGCT	0.463			NA											7	25					1.6384e-10	2.76279e-10	0.001984	1	0
GLP1R	2740	broad.mit.edu	37	6	39034045	39034045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:39034045C>A	uc003ooj.3	+	5	535	c.475C>A	c.(475-477)CTG>ATG	p.L159M	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	159	Helical; Name=1; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CTTCTCTGCTCTGGTTATCGC	0.597			NA											6	29					3.59834e-05	4.69764e-05	0.001168	1	0
LRFN2	57497	broad.mit.edu	37	6	40400435	40400436	+	Missense_Mutation	DNP	CG	CG	TT	rs139467631	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:40400435_40400436CG>TT	uc003oph.1	-	2	882_883	c.417_418CG>AA	c.(415-420)ATCGCA>ATAACA	p.A140T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	140	LRR 4.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTCATCTGCGATGCCGCCCA	0.589			NA											11	19					0	0	0.004672	0	0
GPR111	222611	broad.mit.edu	37	6	47649585	47649585	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47649585C>A	uc010jzj.1	+	6	1291	c.1290C>A	c.(1288-1290)ACC>ACA	p.T430T	GPR111_uc010jzk.1_Silent_p.T362T|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	430	Extracellular (Potential).|GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AATTGTTTACCTCTTTCTCAA	0.438			NA											7	61					0.00448238	0.00501444	0.004482	1	0
GPR115	221393	broad.mit.edu	37	6	47681803	47681803	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47681803G>T	uc003oza.1	+	6	1080	c.822G>T	c.(820-822)CAG>CAT	p.Q274H	GPR115_uc003oyz.1_Missense_Mutation_p.Q331H|GPR115_uc003ozb.1_Missense_Mutation_p.Q272H	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	274	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GAATGGTACAGATTCCCAGGC	0.458	GBM(22;431 510 9010 26644 32828)		NA											18	26					2.35188e-11	4.0861e-11	0.006122	1	0
PGK2	5232	broad.mit.edu	37	6	49754005	49754005	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:49754005C>T	uc003ozu.2	-	1	1003	c.896G>A	c.(895-897)GGA>GAA	p.G299E		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	299					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					AGTGGCTTTTCCAACCTGAGC	0.453			NA											47	87					0	0	0.01441	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810845	50810845	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:50810845C>A	uc003pag.2	+	7	1289	c.1123C>A	c.(1123-1125)CGG>AGG	p.R375R		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	375				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GGCGCAGGACCGGACACCGAT	0.592	Pancreas(116;1373 2332 5475 10752)		NA											30	98					1.7881e-09	2.86763e-09	0.008361	1	0
COL19A1	1310	broad.mit.edu	37	6	70900066	70900066	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:70900066G>A	uc003pfc.1	+	48	3192	c.3075G>A	c.(3073-3075)GAG>GAA	p.E1025E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1025					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTAATCAAGAGGTCCTAAGGA	0.209			NA											4	12					0	0	0.000602	0	0
SCML4	256380	broad.mit.edu	37	6	108066261	108066261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:108066261G>T	uc010kdf.2	-	5	825	c.574C>A	c.(574-576)CTG>ATG	p.L192M	SCML4_uc003prz.3_Missense_Mutation_p.L134M|SCML4_uc011eam.1_Missense_Mutation_p.L192M|SCML4_uc003psa.3_Missense_Mutation_p.L163M	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCGGCACAGCTTGGCGAGG	0.592			NA											3	13					0.004672	0.00515945	0.004672	1	0
DCBLD1	285761	broad.mit.edu	37	6	117864336	117864336	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:117864336G>T	uc003pxs.2	+	12	1532	c.1407G>T	c.(1405-1407)CTG>CTT	p.L469L	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.L469L|DCBLD1_uc003pxt.1_Silent_p.L124L	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	469	Helical; (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTGTTGTCCTGGTGTTTGCTG	0.378			NA											20	71					3.62473e-10	6.02371e-10	0.012319	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611329	127611329	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:127611329G>T	uc003qax.2	-	6	645	c.609C>A	c.(607-609)ATC>ATA	p.I203I	ECHDC1_uc003qaz.3_Silent_p.I197I|ECHDC1_uc010key.2_Silent_p.I122I|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	203							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GTCTACTTCCGATTATTTCAA	0.443			NA											16	38					2.23348e-06	3.12961e-06	0.004007	1	0
C6orf115	58527	broad.mit.edu	37	6	139363914	139363914	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:139363914C>T	uc003qil.2	+	3	320	c.120C>T	c.(118-120)GCC>GCT	p.A40A	C6orf115_uc003qim.2_Silent_p.A40A	NM_021243	NP_067066	Q9P1F3	CF115_HUMAN	hypothetical protein LOC58527	40											0				GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413)		ATAAATGTGCCAACCTCTTTG	0.403			NA											18	61					0	0	0.008871	0	0
THBS2	7058	broad.mit.edu	37	6	169648888	169648888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:169648888A>G	uc003qwt.2	-	4	481	c.233T>C	c.(232-234)ATG>ACG	p.M78T		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	78	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTCTGCCGCATGATCTTGGT	0.647	Esophageal Squamous(91;219 1934 18562 44706)		NA											16	21					0	0	0.003163	0	0
SUN1	23353	broad.mit.edu	37	7	883007	883007	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:883007G>T	uc011jvp.1	+	6	587	c.508G>T	c.(508-510)GGG>TGG	p.G170W	SUN1_uc010ksa.1_Missense_Mutation_p.G191W|SUN1_uc003sje.1_Missense_Mutation_p.G170W|SUN1_uc003sjf.2_Missense_Mutation_p.G120W|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	170	Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						TCAGGGAAACGGGGATGTGGG	0.527			NA											35	110					3.93418e-24	7.80034e-24	0.004289	1	0
ACTB	60	broad.mit.edu	37	7	5567995	5567995	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:5567995T>C	uc003sos.3	-	3	755	c.719A>G	c.(718-720)TAC>TGC	p.Y240C	ACTB_uc003sor.3_Missense_Mutation_p.Y118C|ACTB_uc003sot.3_Missense_Mutation_p.Y240C|ACTB_uc003soq.3_Missense_Mutation_p.Y118C|ACTB_uc010ksy.2_Missense_Mutation_p.Y118C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	240					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGCAGCTCGTAGCTCTTCTC	0.587			NA											21	66					0	0	0.008871	0	0
GLCCI1	113263	broad.mit.edu	37	7	8099853	8099853	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:8099853A>G	uc003srk.2	+	5	1500	c.941A>G	c.(940-942)AAT>AGT	p.N314S		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	314											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATTAAAGAAAATAATGGGAAG	0.353			NA											13	46					0	0	0.003163	0	0
EEPD1	80820	broad.mit.edu	37	7	36336765	36336765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:36336765G>T	uc003tfa.2	+	7	2119	c.1479G>T	c.(1477-1479)TGG>TGT	p.W493C		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	493					DNA repair		DNA binding				0						ACAACATCTGGATCAGTAAAA	0.478			NA											7	28					5.18039e-06	7.1425e-06	0.00308	1	0
GLI3	2737	broad.mit.edu	37	7	42065849	42065849	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:42065849A>C	uc011kbh.1	-	8	1282	c.1191T>G	c.(1189-1191)CCT>CCG	p.P397P	GLI3_uc011kbg.1_Silent_p.P338P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	397					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TCAGAACCGTAGGGATCCCTG	0.602			NA							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				4	18					0	0	0.009096	0	0
OGDH	4967	broad.mit.edu	37	7	44737016	44737016	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:44737016G>C	uc003tln.2	+	16	2208	c.2099G>C	c.(2098-2100)TGC>TCC	p.C700S	OGDH_uc011kbx.1_Missense_Mutation_p.C696S|OGDH_uc011kby.1_Missense_Mutation_p.C550S|OGDH_uc003tlp.2_Missense_Mutation_p.C711S|OGDH_uc011kbz.1_Missense_Mutation_p.C495S|OGDH_uc003tlo.1_Missense_Mutation_p.C533S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	700					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AAGAGAACCTGCATCCCCATG	0.537			NA											12	38					0	0	0.010729	0	0
ADCY1	107	broad.mit.edu	37	7	45719353	45719354	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:45719353_45719354GG>TT	uc003tne.3	+	11	1962_1963	c.1944_1945GG>TT	c.(1942-1947)CTGGTG>CTTTTG	p.V649L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	649	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTGCTTCCTGGTGGCCTGTGT	0.559			NA											21	36					0	0	0.004672	0	0
POM121L12	285877	broad.mit.edu	37	7	53104079	53104079	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:53104079A>T	uc003tpz.2	+	1	731	c.715A>T	c.(715-717)AGC>TGC	p.S239C		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	239											0						TCTGAAGCCGAGCCTCGGCCC	0.647			NA											14	44					0	0	0.001855	0	0
ZNF479	90827	broad.mit.edu	37	7	57188132	57188132	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57188132A>C	uc010kzo.2	-	5	1261	c.990T>G	c.(988-990)TGT>TGG	p.C330W		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	330	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGCTTTGCCACATTCCTCAC	0.448			NA											15	35					0	0	0.00499	0	0
ZNF716	441234	broad.mit.edu	37	7	57528738	57528738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57528738G>T	uc011kdi.1	+	4	683	c.571G>T	c.(571-573)GGC>TGC	p.G191C		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						TAAAAACGATGGCAAATCATT	0.338			NA											3	14					0.004672	0.00515945	0.004672	1	0
LOC643955	643955	broad.mit.edu	37	7	62758685	62758685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:62758685C>A	uc011kdj.1	-	2	193	c.125G>T	c.(124-126)AGA>ATA	p.R42I		NR_003952				Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors.												0						CATCACATGTCTATATAAATT	0.378			NA											31	69					9.65021e-13	1.729e-12	0.010818	1	0
ZNF117	51351	broad.mit.edu	37	7	64438556	64438556	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:64438556T>A	uc003ttr.2	-	4	2678	c.1393A>T	c.(1393-1395)ATA>TTA	p.I465L		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	465	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTATGAATTATCTTATGTGTA	0.353			NA											6	31					0	0	0.001168	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885970	70885970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:70885970G>T	uc003tvy.2	+	5	841	c.841G>T	c.(841-843)GAC>TAC	p.D281Y	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	281	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATCAAACAGGACAACTTTGA	0.557			NA											43	97					3.83281e-39	7.7558e-39	0.010771	1	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	Missense_Mutation	SNP	C	C	G	rs147711959	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:72209576C>G	uc011kej.1	-	8	1126	c.967G>C	c.(967-969)GAT>CAT	p.D323H	TYW1B_uc011keh.1_Missense_Mutation_p.D161H|TYW1B_uc011kei.1_5'UTR|TYW1B_uc011kek.1_RNA	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	323					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0						CTCGGAGCATCGACTATGACA	0.413			NA											3	38					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82581839	82581839	+	Silent	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:82581839T>G	uc003uhx.2	-	5	8719	c.8430A>C	c.(8428-8430)ACA>ACC	p.T2810T	PCLO_uc003uhv.2_Silent_p.T2810T|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTAGGCTTTCTGTGCCTGTAG	0.473			NA											6	45					0	0	0.001168	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702316	84702316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:84702316G>C	uc003uic.2	-	4	497	c.457C>G	c.(457-459)CCA>GCA	p.P153A	SEMA3D_uc010led.2_Missense_Mutation_p.P153A|SEMA3D_uc010lee.1_Missense_Mutation_p.P153A	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	153	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CCACATATTGGATGAAATGCT	0.328	Ovarian(63;442 1191 17318 29975 31528)		NA											7	33					0	0	0.001984	0	0
CROT	54677	broad.mit.edu	37	7	86990876	86990876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:86990876G>T	uc003uit.2	+	5	656	c.411G>T	c.(409-411)CAG>CAT	p.Q137H	CROT_uc003uiu.2_Missense_Mutation_p.Q165H	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	137					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTACTGGCAGCTATTAAGAA	0.408			NA											4	31					0.000602214	0.000707037	0.000602	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966181	88966181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:88966181G>T	uc011khi.1	+	4	4423	c.3885G>T	c.(3883-3885)TTG>TTT	p.L1295F		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1295						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)			TTCCTACATTGTTTGGTCCTC	0.443			NA								HNSCC(36;0.09)			17	162					0.000566183	0.000673934	0.00499	1	0
CALCR	799	broad.mit.edu	37	7	93065450	93065450	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:93065450C>A	uc003umv.1	-	13	1326	c.1065G>T	c.(1063-1065)CGG>CGT	p.R355R	CALCR_uc011kia.1_Silent_p.R135R|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.R321R|CALCR_uc003umw.2_Silent_p.R321R	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	337	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCACAAGCACCCGGACAATGT	0.453			NA											14	37					0.00316338	0.00356204	0.003163	1	0
NPTX2	4885	broad.mit.edu	37	7	98256507	98256507	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256507G>T	uc003upl.2	+	4	1096	c.919G>T	c.(919-921)GGC>TGC	p.G307C		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	307	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCAGTGACGGCAAGTGGCA	0.637			NA											13	25					7.93312e-07	1.13236e-06	0.00245	1	0
NPTX2	4885	broad.mit.edu	37	7	98256612	98256612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256612C>A	uc003upl.2	+	4	1201	c.1024C>A	c.(1024-1026)CAC>AAC	p.H342N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	342	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCCCTGGCACCCCATCAA	0.657			NA											6	29					5.9392e-07	8.56639e-07	0.001168	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	G	T	rs150667953	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99757655G>T	uc003utt.2	-	3	2374	c.1357C>A	c.(1357-1359)CGC>AGC	p.R453S	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453S|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391S	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAGCTAGGCGCTCACATTCC	0.572			NA											22	42					1.64293e-13	3.00622e-13	0.00333	1	0
PILRA	29992	broad.mit.edu	37	7	99997503	99997503	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99997503G>A	uc003uuo.1	+	7	1097	c.885G>A	c.(883-885)GAG>GAA	p.E295E	PILRA_uc011kjo.1_Missense_Mutation_p.D210N|PILRA_uc003uup.1_Silent_p.E222E|PILRA_uc003uuq.1_3'UTR	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	295	Cytoplasmic (Potential).				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.E295K(1)		skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGAACGAGACCCTGTACT	0.473			NA											20	75					0	0	0.010504	0	0
ZAN	7455	broad.mit.edu	37	7	100348468	100348468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:100348468C>A	uc003uwj.2	+	12	1635	c.1470C>A	c.(1468-1470)TAC>TAA	p.Y490*	ZAN_uc003uwk.2_Nonsense_Mutation_p.Y490*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	490	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCGCCCTTACTGGCAGAACA	0.627			NA											3	19					0.000602214	0.000707037	0.000602	1	0
MUC17	140453	broad.mit.edu	37	7	100678117	100678117	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:100678117A>T	uc003uxp.1	+	3	3473	c.3420A>T	c.(3418-3420)TCA>TCT	p.S1140S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1140	Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCCAGTTCATCTCCTACAA	0.542			NA											152	575					0	0	0.01441	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423710	107423710	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107423710C>A	uc003ver.2	-	9	1270	c.1059G>T	c.(1057-1059)GTG>GTT	p.V353V	SLC26A3_uc003ves.2_Silent_p.V318V	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	353	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						CTGAAAAGGCCACTGCAAATG	0.443			NA											18	28					1.99824e-07	2.9693e-07	0.00499	1	0
NRCAM	4897	broad.mit.edu	37	7	107816895	107816895	+	Missense_Mutation	SNP	G	G	T	rs147348539		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107816895G>T	uc003vfb.2	-	27	3602	c.3131C>A	c.(3130-3132)GCA>GAA	p.A1044E	NRCAM_uc003vfc.2_Missense_Mutation_p.A1028E|NRCAM_uc011kmk.1_Missense_Mutation_p.A1039E|NRCAM_uc003vfd.2_Missense_Mutation_p.A1020E|NRCAM_uc003vfe.2_Missense_Mutation_p.A1020E|NRCAM_uc011kmj.1_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1044	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						AGTTGTTACTGCTTCCTCTGT	0.308			NA											14	58					1.15088e-07	1.72506e-07	0.004007	1	0
LRRN3	54674	broad.mit.edu	37	7	110764717	110764717	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:110764717T>C	uc003vft.3	+	4	2935	c.1889T>C	c.(1888-1890)ATG>ACG	p.M630T	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.M630T|LRRN3_uc003vfs.3_Missense_Mutation_p.M630T	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	630	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAACACTTATGGCCTGTCTT	0.413			NA											14	50					0	0	0.00245	0	0
IFRD1	3475	broad.mit.edu	37	7	112112292	112112292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112112292G>T	uc003vgh.2	+	11	1503	c.1060G>T	c.(1060-1062)GAA>TAA	p.E354*	IFRD1_uc011kmn.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgj.2_Nonsense_Mutation_p.E354*|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgk.2_Nonsense_Mutation_p.E71*	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	354					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TTTTCCAACAGAAACCATTAA	0.393			NA											18	41					0.00074312	0.000865087	0.006122	1	0
C7orf60	154743	broad.mit.edu	37	7	112579683	112579683	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112579683C>G	uc003vgo.1	-	1	250	c.123G>C	c.(121-123)AAG>AAC	p.K41N	C7orf60_uc011kms.1_Missense_Mutation_p.K41N	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	41										ovary(2)|skin(1)	3						GGTGGACGCTCTTCACCACAC	0.647			NA											4	43					0	0	0.009096	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:114269973A>G	uc003vhb.2	+	5	884	c.510A>G	c.(508-510)CAA>CAG	p.Q170Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q195Q|FOXP2_uc003vha.2_Silent_p.Q78Q|FOXP2_uc011kmu.1_Silent_p.Q187Q|FOXP2_uc011kmv.1_Silent_p.Q170Q|FOXP2_uc010ljz.1_Silent_p.Q78Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhd.2_Silent_p.Q170Q|FOXP2_uc003vhc.2_Silent_p.Q195Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						agcagcagcaacaacaacaac	0.164			NA											3	40					0	0	0.004672	0	0
SPAM1	6677	broad.mit.edu	37	7	123594058	123594058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:123594058T>C	uc003vld.2	+	4	836	c.434T>C	c.(433-435)ATT>ACT	p.I145T	SPAM1_uc003vle.2_Missense_Mutation_p.I145T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.I145T|SPAM1_uc010lku.2_Missense_Mutation_p.I145T	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	145					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	ATGGCTGTTATTGACTGGGAA	0.393			NA											14	35					0	0	0.00245	0	0
PAX4	5078	broad.mit.edu	37	7	127251136	127251136	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:127251136T>A	uc010lld.1	-	9	1220	c.1014A>T	c.(1012-1014)CTA>CTT	p.L338L	PAX4_uc003vmf.2_Silent_p.L336L|PAX4_uc003vmg.1_Intron	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	Error:Variant_position_missing_in_O43316_after_alignment					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCCATACAGTAGTGGGCAGC	0.567	Ovarian(113;737 1605 7858 27720 34092)		NA											3	14					0	0	0.004672	0	0
CCDC136	64753	broad.mit.edu	37	7	128454800	128454800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:128454800C>G	uc003vnv.1	+	15	3239	c.2872C>G	c.(2872-2874)CAG>GAG	p.Q958E	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q774E|CCDC136_uc010llq.1_Missense_Mutation_p.Q327E|CCDC136_uc003vny.1_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	958	Potential.					integral to membrane	protein binding			ovary(2)	2						GGGGCAGCTGCAGTGCTGCCA	0.582			NA											3	24					0	0	0.004672	0	0
CPA2	1358	broad.mit.edu	37	7	129909638	129909638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:129909638G>T	uc003vpq.2	+	3	302	c.283G>T	c.(283-285)GTG>TTG	p.V95L	CPA2_uc011kpc.1_Missense_Mutation_p.V95L	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	95					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GATTGAAGACGTGCAGGTAAT	0.517			NA											11	21					3.86212e-05	5.01347e-05	0.008291	1	0
WDR91	29062	broad.mit.edu	37	7	134881057	134881057	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:134881057T>A	uc003vsp.2	-	8	1145	c.1083A>T	c.(1081-1083)CCA>CCT	p.P361P	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	361										breast(2)|ovary(1)|skin(1)	4						GCTCAGCCTCTGGGCCACTGG	0.657			NA											16	36					0	0	0.007413	0	0
WEE2	494551	broad.mit.edu	37	7	141418964	141418964	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:141418964C>A	uc003vwn.2	+	4	1084	c.678C>A	c.(676-678)GTC>GTA	p.V226V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	226	ATP (By similarity).|Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TTGGTACAGTCTACAAGTGCA	0.373			NA											16	50					2.31682e-05	3.07124e-05	0.003163	1	0
OR2A2	442361	broad.mit.edu	37	7	143806830	143806830	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:143806830C>G	uc011ktz.1	+	1	155	c.155C>G	c.(154-156)TCT>TGT	p.S52C		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TGCCTGGACTCTAAGCTTCAC	0.493			NA											47	123					0	0	0.01441	0	0
OR2A14	135941	broad.mit.edu	37	7	143826637	143826637	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:143826637T>A	uc011kua.1	+	1	432	c.432T>A	c.(430-432)GCT>GCA	p.A144A		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CTGTCCTGGCTGTGGCTTCCT	0.532			NA											63	155					0	0	0.01441	0	0
ABP1	26	broad.mit.edu	37	7	150553579	150553579	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:150553579C>G	uc003why.1	+	3	4239	c.21C>G	c.(19-21)GCC>GCG	p.A7A	ABP1_uc003whz.1_Silent_p.A7A|ABP1_uc003wia.1_Silent_p.A7A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	7					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGGGCTGGGCCGTGGCTGCCA	0.607	Pancreas(195;1227 3054 24912 28503)		NA											4	28					0	0	0.009096	0	0
MLL3	58508	broad.mit.edu	37	7	151962193	151962193	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:151962193C>A	uc003wla.2	-	8	1333	c.1114G>T	c.(1114-1116)GAT>TAT	p.D372Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	372	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCGCTATATCCAGGCACATT	0.453	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								7	203					0.000673444	0.000786638	0.008291	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926730	157926730	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:157926730G>C	uc003wno.2	-	9	1316	c.1195C>G	c.(1195-1197)CTC>GTC	p.L399V	PTPRN2_uc003wnp.2_Missense_Mutation_p.L382V|PTPRN2_uc003wnq.2_Missense_Mutation_p.L399V|PTPRN2_uc003wnr.2_Missense_Mutation_p.L361V|PTPRN2_uc011kwa.1_Missense_Mutation_p.L422V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	399	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCCCCCGAGTGTGGCACTC	0.602			NA											7	35					0	0	0.001984	0	0
MYOM2	9172	broad.mit.edu	37	8	2056576	2056576	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2056576G>T	uc003wpx.3	+	24	3137	c.2999_splice	c.e24-1	p.E1000_splice	MYOM2_uc011kwi.1_Splice_Site_p.E425_splice	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCGTTTTAGAGCTCGAGCG	0.498			NA											7	58					0.00198382	0.00225226	0.001984	1	0
CSMD1	64478	broad.mit.edu	37	8	2807764	2807764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2807764G>T	uc011kwk.1	-	67	10696	c.10306C>A	c.(10306-10308)CTA>ATA	p.L3436I	CSMD1_uc011kwj.1_Missense_Mutation_p.L2750I|CSMD1_uc010lrg.2_Missense_Mutation_p.L1327I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3436	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACCATCTAGTCCCCAGTTG	0.433			NA											10	78					0.000978159	0.00113486	0.010729	1	0
CSMD1	64478	broad.mit.edu	37	8	2857539	2857539	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2857539G>C	uc011kwk.1	-	53	8537	c.8147C>G	c.(8146-8148)ACT>AGT	p.T2716S	CSMD1_uc011kwj.1_Missense_Mutation_p.T2045S|CSMD1_uc010lrg.2_Missense_Mutation_p.T726S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2716	Extracellular (Potential).|Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCACGGAAGTTCCCACAAG	0.512			NA											12	76					0	0	0.00245	0	0
XKR6	286046	broad.mit.edu	37	8	10756321	10756321	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:10756321C>A	uc003wtk.1	-	3	1094	c.1067G>T	c.(1066-1068)GGG>GTG	p.G356V		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	356						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATGATGGCCCCTCTGTAGCT	0.542			NA											11	76					5.16669e-11	8.86454e-11	0.010729	1	0
ADAM28	10863	broad.mit.edu	37	8	24201028	24201028	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:24201028C>T	uc003xdy.2	+	18	2004	c.1921C>T	c.(1921-1923)CAT>TAT	p.H641Y	ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.H328Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	641	EGF-like.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGTGTGACCATGAGCTCCA	0.488	NSCLC(193;488 2149 22258 34798 40734)		NA											5	11					0	0	0.000602	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612118	42612118	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:42612118G>A	uc003xpj.2	-	4	373	c.327C>T	c.(325-327)CGC>CGT	p.R109R	CHRNA6_uc011lcw.1_Silent_p.R94R	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	109	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGCAGGAACGCGAAGAGTCT	0.388			NA											13	45					0	0	0.003163	0	0
SNTG1	54212	broad.mit.edu	37	8	51449274	51449274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:51449274G>T	uc010lxy.1	+	12	957	c.586G>T	c.(586-588)GGC>TGC	p.G196C	SNTG1_uc003xqs.1_Missense_Mutation_p.G196C|SNTG1_uc010lxz.1_Missense_Mutation_p.G196C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	196					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GACGTCTCCAGGCTTGAGGTG	0.473			NA											12	112					3.07112e-06	4.26854e-06	0.010729	1	0
PXDNL	137902	broad.mit.edu	37	8	52320835	52320835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52320835G>T	uc003xqu.3	-	17	3450	c.3349C>A	c.(3349-3351)CTT>ATT	p.L1117I	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1117					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)				GGACTGAGAAGGTAGGAGGGT	0.582			NA											9	73					2.17888e-05	2.89955e-05	0.006214	1	0
PXDNL	137902	broad.mit.edu	37	8	52370149	52370149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52370149C>A	uc003xqu.3	-	9	992	c.891G>T	c.(889-891)GAG>GAT	p.E297D		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	297	Ig-like C2-type 1.				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)				CTTGGTCTGACTCTCTGGTGT	0.453			NA											6	80					8.12818e-05	0.000102047	0.001984	1	0
SOX17	64321	broad.mit.edu	37	8	55372454	55372454	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:55372454C>T	uc003xsb.3	+	2	1348	c.1144C>T	c.(1144-1146)CAT>TAT	p.H382Y		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	382	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTACCAGGGGCATGACTCCGG	0.612			NA											6	13					0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55540348	55540348	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:55540348C>G	uc003xsd.1	+	4	4054	c.3906C>G	c.(3904-3906)GTC>GTG	p.V1302V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1302					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGGAGAGGTCTGTTCACTTA	0.433	Colon(91;1014 1389 7634 14542 40420)		NA											13	83					0	0	0.013537	0	0
JPH1	56704	broad.mit.edu	37	8	75227380	75227380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:75227380C>T	uc003yae.2	-	2	895	c.855G>A	c.(853-855)TGG>TGA	p.W285*	JPH1_uc003yaf.2_Nonsense_Mutation_p.W285*|JPH1_uc003yag.1_Nonsense_Mutation_p.W149*	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	285	Cytoplasmic (Potential).|MORN 6.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGTCGTTCTTCCACTCGCCCA	0.537			NA											4	94					0	0	0.009096	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999186	92999186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:92999186G>T	uc003yfd.2	-	7	1090	c.1006C>A	c.(1006-1008)CGT>AGT	p.R336S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R309S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R299S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R309S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R347S|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R299S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	336					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTTCTTGACGTGTGCCATGC	0.408			NA											22	46					1.36565e-18	2.62448e-18	0.00278	1	0
RUNX1T1	862	broad.mit.edu	37	8	93026891	93026891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:93026891C>A	uc003yfd.2	-	3	468	c.384G>T	c.(382-384)AGG>AGT	p.R128S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R101S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R91S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R101S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R139S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yff.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R91S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	128	TAFH.			R->D: Loss of interaction with TCF12.	generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAGTAAGGAACCTTTTCAGCT	0.522			NA											16	49					3.45872e-05	4.55862e-05	0.004007	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110447520	110447520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:110447520G>T	uc003yne.2	+	29	3546	c.3442G>T	c.(3442-3444)GAG>TAG	p.E1148*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1148	Extracellular (Potential).|IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGGGTGAAGAGTTCTACTT	0.438			NA								HNSCC(38;0.096)			44	102					1.06522e-23	2.09992e-23	0.013114	1	0
CSMD3	114788	broad.mit.edu	37	8	113243813	113243813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:113243813G>T	uc003ynu.2	-	69	10948	c.10789C>A	c.(10789-10791)CAA>AAA	p.Q3597K	CSMD3_uc003yns.2_Missense_Mutation_p.Q2799K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3557K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3428K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3597	Extracellular (Potential).					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						TCTTTGCCTTGAATAAATCCT	0.323			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	94					3.03874e-20	5.92253e-20	0.003271	1	0
FLJ43860	389690	broad.mit.edu	37	8	142476535	142476535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:142476535G>T	uc003ywi.2	-	19	2532	c.2451C>A	c.(2449-2451)TTC>TTA	p.F817L	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	817							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGATGTTCAGGAAGGTGGCCA	0.647			NA											7	12					8.12818e-05	0.000102047	0.001984	1	0
CYP11B2	1585	broad.mit.edu	37	8	143993975	143993975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:143993975C>A	uc003yxk.1	-	8	1372	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	457					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCTCTGCCTCTGCCAGGCGC	0.692			NA							Familial_Hyperaldosteronism_type_I				6	38					0.000442599	0.000527744	0.006214	1	0
PLEC	5339	broad.mit.edu	37	8	144993686	144993686	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:144993686C>G	uc003zaf.1	-	32	10884	c.10714G>C	c.(10714-10716)GGC>CGC	p.G3572R	PLEC_uc003zab.1_Missense_Mutation_p.G3435R|PLEC_uc003zac.1_Missense_Mutation_p.G3439R|PLEC_uc003zad.2_Missense_Mutation_p.G3435R|PLEC_uc003zae.1_Missense_Mutation_p.G3403R|PLEC_uc003zag.1_Missense_Mutation_p.G3413R|PLEC_uc003zah.2_Missense_Mutation_p.G3421R|PLEC_uc003zaj.2_Missense_Mutation_p.G3462R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3572	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCTCTGTAGCCGGTGACGGCC	0.677			NA											7	38					0	0	0.006214	0	0
DMRT3	58524	broad.mit.edu	37	9	990229	990229	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:990229G>C	uc003zgw.1	+	2	681	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	215					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGCAACCCCGAGAGCCGCCC	0.587			NA											10	32					0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8517929	8517929	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:8517929A>C	uc003zkk.2	-	20	2173	c.1462T>G	c.(1462-1464)TAT>GAT	p.Y488D	PTPRD_uc003zkp.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkq.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkr.2_Missense_Mutation_p.Y482D|PTPRD_uc003zks.2_Missense_Mutation_p.Y478D|PTPRD_uc003zkl.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkm.2_Missense_Mutation_p.Y475D|PTPRD_uc003zkn.2_Missense_Mutation_p.Y488D|PTPRD_uc003zko.2_Missense_Mutation_p.Y485D	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	488	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACAGAATATGTTTTCTGG	0.428			NA								TSP Lung(15;0.13)			9	46					0	0	0.006214	0	0
MPDZ	8777	broad.mit.edu	37	9	13183472	13183472	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:13183472C>G	uc010mia.1	-	18	2651	c.2594G>C	c.(2593-2595)AGT>ACT	p.S865T	MPDZ_uc010mhy.2_Missense_Mutation_p.S865T|MPDZ_uc010mhz.2_Missense_Mutation_p.S865T|MPDZ_uc011lmn.1_Missense_Mutation_p.S865T|MPDZ_uc003zlb.3_Missense_Mutation_p.S865T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	865					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCACAAGAACTGCCATGAAG	0.403			NA											5	15					0	0	0.001168	0	0
TAF1L	138474	broad.mit.edu	37	9	32634807	32634807	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:32634807T>C	uc003zrg.1	-	1	861	c.771A>G	c.(769-771)AAA>AAG	p.K257K	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	257					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCGTAACACTTTTCCAGGTC	0.488			NA											23	69					0	0	0.00278	0	0
MCART1	92014	broad.mit.edu	37	9	37888039	37888039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:37888039C>A	uc004aau.2	-	3	1253	c.509G>T	c.(508-510)GGA>GTA	p.G170V	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.G170V	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	170	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		ATAATACTCTCCAATTCCATG	0.458			NA											8	77					0.00307968	0.00347347	0.00308	1	0
LOC442421	442421	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	A	G	rs141617852	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:66499716A>G	uc004aee.1	+	1	526	c.526A>G	c.(526-528)AAT>GAT	p.N176D	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						CCTGGAGCCCAATCTGCTGGA	0.607			NA											5	64					0	0	0.00308	0	0
TRPM3	80036	broad.mit.edu	37	9	73225584	73225584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:73225584G>T	uc004aid.2	-	18	2816	c.2572C>A	c.(2572-2574)CTC>ATC	p.L858I	TRPM3_uc004ahu.2_Missense_Mutation_p.L688I|TRPM3_uc004ahv.2_Missense_Mutation_p.L660I|TRPM3_uc004ahw.2_Missense_Mutation_p.L730I|TRPM3_uc004ahx.2_Missense_Mutation_p.L717I|TRPM3_uc004ahy.2_Missense_Mutation_p.L720I|TRPM3_uc004ahz.2_Missense_Mutation_p.L707I|TRPM3_uc004aia.2_Missense_Mutation_p.L705I|TRPM3_uc004aib.2_Missense_Mutation_p.L695I|TRPM3_uc004aic.2_Missense_Mutation_p.L858I	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	883	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TTTCTGCCGAGGGGGATTAAC	0.473			NA											14	60					1.5842e-08	2.48276e-08	0.001855	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321360	79321360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:79321360C>T	uc010mpk.2	-	8	5954	c.5830G>A	c.(5830-5832)GCT>ACT	p.A1944T	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1944					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TCACCAGCAGCAGACACAAAG	0.493			NA											5	44					0	0	0.000602	0	0
KIF27	55582	broad.mit.edu	37	9	86530457	86530457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:86530457C>A	uc004ana.2	-	2	194	c.50G>T	c.(49-51)TGC>TTC	p.C17F	KIF27_uc010mpw.2_Missense_Mutation_p.C17F|KIF27_uc010mpx.2_Missense_Mutation_p.C17F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	17	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						AGCTTCTTTGCAAAGCAGAGG	0.333			NA											10	25					0.000442599	0.000527744	0.006214	1	0
NTRK2	4915	broad.mit.edu	37	9	87285783	87285783	+	Silent	SNP	C	C	A	rs68100822		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:87285783C>A	uc004aoa.1	+	4	1058	c.120C>A	c.(118-120)GCC>GCA	p.A40A	NTRK2_uc004anv.1_Silent_p.A40A|NTRK2_uc004any.1_Silent_p.A40A|NTRK2_uc004anz.1_Silent_p.A40A|NTRK2_uc011lsz.1_Silent_p.A40A|NTRK2_uc011lta.1_Silent_p.A40A|NTRK2_uc004aob.1_Silent_p.A40A|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	40	Extracellular (Potential).|LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						AATGCAGTGCCTCTCGGATCT	0.597			NA								TSP Lung(25;0.17)			18	38					6.94344e-10	1.14012e-09	0.006122	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88236124	88236124	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:88236124T>C	uc011ltd.1	-	14	2125	c.2092A>G	c.(2092-2094)AAC>GAC	p.N698D	AGTPBP1_uc004aod.3_Missense_Mutation_p.N324D|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N596D|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N658D|AGTPBP1_uc011lte.1_Missense_Mutation_p.N710D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	698					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						TACTTTGGGTTATCCAAGTCA	0.259			NA											14	26					0	0	0.00245	0	0
OMD	4958	broad.mit.edu	37	9	95178974	95178974	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:95178974G>T	uc004asd.3	-	2	1236	c.867C>A	c.(865-867)CAC>CAA	p.H289Q	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	289	LRR 9.				cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						TCAATTTGTTGTGTCCAACAC	0.303			NA	T	USP6	aneurysmal bone cysts								10	35					7.48243e-07	1.07248e-06	0.006214	1	0
C9orf3	84909	broad.mit.edu	37	9	97522328	97522328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:97522328G>A	uc004ava.2	+	1	398	c.263G>A	c.(262-264)AGG>AAG	p.R88K	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.R88K|C9orf3_uc004auy.2_Missense_Mutation_p.R88K|C9orf3_uc004auz.1_Missense_Mutation_p.R88K	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	88					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACAAATGCAAGGACCTTCTCA	0.393			NA											21	47					0	0	0.012319	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433161	104433161	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:104433161A>G	uc004bbp.1	-	3	2134	c.1533T>C	c.(1531-1533)AGT>AGC	p.S511S	GRIN3A_uc004bbq.1_Silent_p.S511S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	511	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTGTAGCTTACTTGGATGTT	0.522			NA											25	50					0	0	0.003954	0	0
SVEP1	79987	broad.mit.edu	37	9	113169798	113169798	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:113169798G>T	uc010mtz.2	-	38	8419	c.8082C>A	c.(8080-8082)AAC>AAA	p.N2694K	SVEP1_uc010mty.2_Missense_Mutation_p.N620K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2694	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCAGCACAGGGTTCCCCAGAA	0.443			NA											7	114					0.00198382	0.00225226	0.001984	1	0
PHF19	26147	broad.mit.edu	37	9	123628067	123628067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:123628067T>A	uc004bks.1	-	9	1074	c.821A>T	c.(820-822)CAG>CTG	p.Q274L	PHF19_uc011lyf.1_Missense_Mutation_p.Q65L|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CTTCTTGCTCTGTACCCCCAG	0.572			NA											27	54					0	0	0.007291	0	0
LMX1B	4010	broad.mit.edu	37	9	129453247	129453247	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:129453247C>T	uc004bqj.2	+	3	440	c.390C>T	c.(388-390)GGC>GGT	p.G130G	LMX1B_uc004bqi.2_Silent_p.G130G|LMX1B_uc011maa.1_Silent_p.G130G	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	130	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TACGCAAGGGCGACGAATTCG	0.632	Pancreas(110;1796 2278 18357 20466)		NA							Nail-Patella_Syndrome				5	16					0	0	0.000602	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134526329	134526329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:134526329C>A	uc004cbc.2	-	2	148	c.18G>T	c.(16-18)CAG>CAT	p.Q6H	RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q24H|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q11H|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q11H	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	6					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGAGAACGCTGAGAGTCTG	0.463			NA											15	34					0.000219431	0.000269587	0.00245	1	0
DBH	1621	broad.mit.edu	37	9	136501746	136501746	+	Missense_Mutation	SNP	G	G	T	rs78445536	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:136501746G>T	uc004cel.2	+	1	262	c.253G>T	c.(253-255)GTC>TTC	p.V85F		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	85	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAAGGCTGGCGTCCTGTTTGG	0.617			NA											3	10					0.004672	0.00515945	0.004672	1	0
PPP2R3B	28227	broad.mit.edu	37	X	299548	299548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:299548C>A	uc004cpg.2	-	11	1636	c.1435G>T	c.(1435-1437)GAC>TAC	p.D479Y	PPP2R3B_uc004cpf.2_Missense_Mutation_p.D80Y	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	479					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTCGTGGTCGAGGTACTTC	0.498			NA											16	42					2.32078e-09	3.69606e-09	0.003163	1	0
MXRA5	25878	broad.mit.edu	37	X	3228008	3228008	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:3228008G>C	uc004crg.3	-	7	8393	c.8236C>G	c.(8236-8238)CGG>GGG	p.R2746G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2746	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCCGGGCCGGGTGTAGATG	0.597			NA											23	47					0	0	0.014323	0	0
GLRA2	2742	broad.mit.edu	37	X	14548215	14548215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:14548215G>T	uc010nep.2	+	2	368	c.36G>T	c.(34-36)TTG>TTT	p.L12F	GLRA2_uc010neq.2_Missense_Mutation_p.L12F|GLRA2_uc004cwe.3_Missense_Mutation_p.L12F|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_5'Flank	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	12					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGACAGCCTTGTTTGCATTTT	0.368			NA											11	51					4.36969e-10	7.20947e-10	0.001855	1	0
ASB11	140456	broad.mit.edu	37	X	15320871	15320871	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:15320871G>T	uc004cwp.1	-	2	240	c.240C>A	c.(238-240)GCC>GCA	p.A80A	ASB11_uc004cwo.1_Silent_p.A59A|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.A80A	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	80	ANK 1.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					AAGTTTTAAGGGCCAGTAAGC	0.433			NA											7	37					8.12818e-05	0.000102047	0.001984	1	0
RBBP7	5931	broad.mit.edu	37	X	16870189	16870189	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:16870189G>T	uc004cxt.2	-	9	1378	c.1020C>A	c.(1018-1020)CGC>CGA	p.R340R	RBBP7_uc004cxs.1_Silent_p.R384R|RBBP7_uc004cxu.2_Silent_p.R331R	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	340	WD 6.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					ACACATTCAGGCGGCGGTCAG	0.383			NA											46	120					1.46357e-32	2.93568e-32	0.01441	1	0
BEND2	139105	broad.mit.edu	37	X	18194204	18194204	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18194204G>T	uc004cyj.3	-	11	1794	c.1640C>A	c.(1639-1641)GCA>GAA	p.A547E	BEND2_uc010nfb.2_Missense_Mutation_p.A456E	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	547	BEN 1.									ovary(3)|kidney(1)|central_nervous_system(1)	5						AAAAGTTGTTGCCAGATATTC	0.323			NA											10	32					3.07112e-06	4.26854e-06	0.010729	1	0
PPEF1	5475	broad.mit.edu	37	X	18822024	18822024	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18822024G>T	uc004cyq.2	+	14	1561	c.1080G>T	c.(1078-1080)CTG>CTT	p.L360L	PPEF1_uc004cyp.2_Silent_p.L332L|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Silent_p.L360L|PPEF1_uc011mja.1_Silent_p.L295L|PPEF1_uc011mjb.1_Silent_p.L304L	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	360	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					TTGATATTCTGTGGAGTGATC	0.373			NA											29	57					3.90053e-15	7.29229e-15	0.012213	1	0
MAP3K15	389840	broad.mit.edu	37	X	19387328	19387328	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:19387328G>C	uc004czk.1	-	26	3472	c.1835C>G	c.(1834-1836)GCC>GGC	p.A612G	MAP3K15_uc004czj.1_Missense_Mutation_p.A572G|MAP3K15_uc004czi.1_Missense_Mutation_p.A71G	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1137							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					CTCAAAGTGGGCTCGGAGCTC	0.597			NA											11	43					0	0	0.001855	0	0
FAM47A	158724	broad.mit.edu	37	X	34149660	34149660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:34149660G>T	uc004ddg.2	-	1	769	c.736C>A	c.(736-738)CAT>AAT	p.H246N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	246	Pro-rich.									ovary(4)|central_nervous_system(1)	5						GGGCGGATATGGGACACTCCA	0.642			NA											6	39					8.12818e-05	0.000102047	0.001984	1	0
BCOR	54880	broad.mit.edu	37	X	39934249	39934249	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:39934249T>A	uc004den.3	-	4	642	c.350A>T	c.(349-351)GAA>GTA	p.E117V	BCOR_uc004dep.3_Missense_Mutation_p.E117V|BCOR_uc004deo.3_Missense_Mutation_p.E117V|BCOR_uc004dem.3_Missense_Mutation_p.E117V|BCOR_uc004deq.3_Missense_Mutation_p.E117V	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	117					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGGATTTCTTTCCGAAGAAAA	0.512			NA											8	49					0	0	0.004482	0	0
GDPD2	54857	broad.mit.edu	37	X	69647065	69647065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:69647065G>T	uc004dyh.2	+	9	1032	c.781G>T	c.(781-783)GTC>TTC	p.V261F	GDPD2_uc010nkx.1_Missense_Mutation_p.V261F|GDPD2_uc010nky.1_Missense_Mutation_p.V47F|GDPD2_uc011mpk.1_Missense_Mutation_p.V261F|GDPD2_uc011mpl.1_Missense_Mutation_p.V182F|GDPD2_uc011mpm.1_Missense_Mutation_p.V182F	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	261	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					TGATGTGATGGTCAGGTGAGG	0.582			NA											5	29					1.024e-07	1.55521e-07	0.000602	1	0
MID2	11043	broad.mit.edu	37	X	107170202	107170202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107170202G>T	uc004enl.2	+	10	2680	c.2107G>T	c.(2107-2109)GGC>TGC	p.G703C	MID2_uc004enk.2_Missense_Mutation_p.G673C	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	703	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						GATCCTGTCTGGCTTGCCTGC	0.443			NA											19	42					3.99206e-14	7.36337e-14	0.007413	1	0
COL4A6	1288	broad.mit.edu	37	X	107417713	107417713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107417713C>A	uc004enw.3	-	31	3201	c.3098G>T	c.(3097-3099)GGG>GTG	p.G1033V	COL4A6_uc004env.3_Missense_Mutation_p.G1032V|COL4A6_uc011msn.1_Missense_Mutation_p.G1032V|COL4A6_uc010npk.2_Missense_Mutation_p.G1032V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1033	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCCAGAGGACCCCTTCAGGCC	0.557	Melanoma(87;1895 1945 2589 7165)		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				18	33					1.00905e-13	1.85621e-13	0.008871	1	0
GLUD2	2747	broad.mit.edu	37	X	120182771	120182771	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:120182771A>G	uc004eto.2	+	1	1310	c.1233A>G	c.(1231-1233)CCA>CCG	p.P411P		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	411					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAACAACTCCAGAAGCTGATA	0.463			NA											27	151					0	0	0.00632	0	0
THOC2	57187	broad.mit.edu	37	X	122778518	122778518	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:122778518C>A	uc004etu.2	-	15	1601	c.1569G>T	c.(1567-1569)CTG>CTT	p.L523L	THOC2_uc011muh.1_Silent_p.L444L|THOC2_uc011mui.1_Silent_p.L408L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	523					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						ACTGGCCATACAGACGATATC	0.289			NA											3	13					6.4e-05	8.171e-05	0.004672	1	0
GPR101	83550	broad.mit.edu	37	X	136112879	136112879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:136112879C>T	uc011mwh.1	-	1	955	c.955G>A	c.(955-957)GAG>AAG	p.E319K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	319	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCCTTACCCTCCATGCTGCCG	0.587			NA											44	205					0	0	0.01441	0	0
PRRG3	79057	broad.mit.edu	37	X	150869328	150869328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:150869328C>A	uc004few.1	+	4	909	c.519C>A	c.(517-519)AGC>AGA	p.S173R		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	173	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAGAGAGCACCCTCTACC	0.667			NA											11	22					5.16669e-11	8.86454e-11	0.010729	1	0
GABRQ	55879	broad.mit.edu	37	X	151821180	151821180	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:151821180C>A	uc004ffp.1	+	9	1355	c.1335C>A	c.(1333-1335)GCC>GCA	p.A445A		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	445						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCTGGCCACTGGAGAAA	0.592			NA											34	73					3.90053e-15	7.29229e-15	0.012213	1	0
HCFC1	3054	broad.mit.edu	37	X	153219910	153219910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:153219910G>A	uc004fjp.2	-	17	4468	c.3940C>T	c.(3940-3942)CAG>TAG	p.Q1314*		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1314	HCF repeat 6.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCTCTGGGCGCTGCCT	0.677			NA											33	146					0	0	0.003755	0	0
IL9R	3581	broad.mit.edu	37	X	155234100	155234100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:155234100C>A	uc004fnv.1	+	5	628	c.449C>A	c.(448-450)CCC>CAC	p.P150H	IL9R_uc010nvn.2_Missense_Mutation_p.P129H|IL9R_uc004fnu.1_Intron	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	150	Extracellular (Potential).|Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGACCCGCCCTCTGACTTG	0.542			NA											6	37					5.18039e-06	7.1425e-06	0.00308	1	0
LGR6	59352	broad.mit.edu	37	1	202288091	202288091	+	Frame_Shift_Del	DEL	G	G	-	rs151146799	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:202288091delG	uc001gxu.2	+	18	2660	c.2660delG	c.(2659-2661)CGGfs	p.R887fs	LGR6_uc001gxv.2_Frame_Shift_Del_p.R835fs|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Frame_Shift_Del_p.R748fs	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	887	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GAAGCTGGGCGGCCCCCTGGG	0.627			NA											16	57	---	---	---	---	NA	NA	NA	NA	NA
FH	2271	broad.mit.edu	37	1	241675385	241675385	+	Frame_Shift_Del	DEL	C	C	-	rs11545654		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:241675385delC	uc001hyx.2	-	4	469	c.437delG	c.(436-438)GGAfs	p.G146fs		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	146					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGTCTGAGTTCCTGATCCAGT	0.353	Melanoma(148;1573 2486 7381 46575)		NA	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				7	78	---	---	---	---	NA	NA	NA	NA	NA
TYR	7299	broad.mit.edu	37	11	88961080	88961081	+	Frame_Shift_Ins	INS	-	-	A	rs61754389		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:88961080_88961081insA	uc001pcs.2	+	3	1208_1209	c.1126_1127insA	c.(1126-1128)CAGfs	p.Q376fs		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	376	Lumenal, melanosome (Potential).			TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGGA	0.411			NA							Oculocutaneous_Albinism				7	68	---	---	---	---	NA	NA	NA	NA	NA
STRN4	29888	broad.mit.edu	37	19	47231253	47231253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:47231253delC	uc002pfl.2	-	8	1084	c.1051delG	c.(1051-1053)GTCfs	p.V351fs	STRN4_uc002pfm.2_Frame_Shift_Del_p.V351fs|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	351						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGGAGTTTGACCCGACGGCTT	0.647			NA											10	32	---	---	---	---	NA	NA	NA	NA	NA
FIZ1	84922	broad.mit.edu	37	19	56104337	56104337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56104337delC	uc002qli.3	-	3	1060	c.970delG	c.(970-972)GAGfs	p.E324fs	FIZ1_uc002qlj.3_Frame_Shift_Del_p.E324fs	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCGAGGGCTCGGCGGCCGCC	0.776			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
NLRP8	126205	broad.mit.edu	37	19	56490891	56490891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56490891delA	uc002qmh.2	+	9	3079	c.3008delA	c.(3007-3009)GAGfs	p.E1003fs	NLRP8_uc010etg.2_Frame_Shift_Del_p.E984fs	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1003	LRR 6.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTTGTGCGAGGCCTTCTCA	0.478			NA											14	75	---	---	---	---	NA	NA	NA	NA	NA
DEFB116	245930	broad.mit.edu	37	20	29891135	29891136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29891135_29891136insT	uc010ztm.1	-	2	188_189	c.188_189insA	c.(187-189)AATfs	p.N63fs		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	63					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACTTTTGATCATTTGGGCAGGT	0.416			NA											34	242	---	---	---	---	NA	NA	NA	NA	NA
SH3BGR	6450	broad.mit.edu	37	21	40823995	40823995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:40823995delG	uc002yya.2	+	1	216	c.162delG	c.(160-162)TTGfs	p.L54fs	SH3BGR_uc002yxz.2_Intron	NM_007341	NP_031367	P55822	SH3BG_HUMAN	SH3-binding domain and glutamic acid-rich	54					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity				0		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGGGTGTGTTGGGGGGAGTCC	0.552			NA											42	116	---	---	---	---	NA	NA	NA	NA	NA
PCNT	5116	broad.mit.edu	37	21	47832852	47832852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:47832852delG	uc002zji.3	+	29	6203	c.6096delG	c.(6094-6096)TCGfs	p.S2032fs	PCNT_uc002zjj.2_Frame_Shift_Del_p.S1914fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2032					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGCTGCAGTCGGAGCTGCTCT	0.617			NA											9	61	---	---	---	---	NA	NA	NA	NA	NA
SH3RF1	57630	broad.mit.edu	37	4	170043254	170043255	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:170043254_170043255delCT	uc003isa.1	-	7	1677_1678	c.1342_1343delAG	c.(1342-1344)AGTfs	p.S448fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.S148fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	448	SH3 3.|Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACTTACACACTGGGGCGAGTC	0.545			NA											9	34	---	---	---	---	NA	NA	NA	NA	NA
VCAN	1462	broad.mit.edu	37	5	82836883	82836884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:82836883_82836884insC	uc003kii.3	+	8	8417_8418	c.8061_8062insC	c.(8059-8064)CTTCCCfs	p.L2687fs	VCAN_uc003kij.3_Frame_Shift_Ins_p.L1700fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Ins_p.L1351fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2687_2688	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGTTTTACTTCCCACGGCAAC	0.441			NA											9	49	---	---	---	---	NA	NA	NA	NA	NA
OCRL	4952	broad.mit.edu	37	X	128722155	128722155	+	Splice_Site	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:128722155delG	uc004euq.2	+	21	2422	c.2257_splice	c.e21-1	p.E753_splice	OCRL_uc004eur.2_Splice_Site_p.E745_splice|OCRL_uc010nrb.2_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						TTCTTTGGTAGGAGGACCTGT	0.488			NA											12	34	---	---	---	---	NA	NA	NA	NA	NA
BCORL1	63035	broad.mit.edu	37	X	129149178	129149178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:129149178delG	uc004evb.1	+	4	2544	c.2430delG	c.(2428-2430)CCGfs	p.P810fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.P712fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	810					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCACGGGGCCGGCAAATATTT	0.577			NA											25	74	---	---	---	---	NA	NA	NA	NA	NA
