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
UBE4B	10277	broad.mit.edu	37	1	10165755	10165755	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:10165755C>G	uc001aqs.3	+	6	1475	c.762C>G	c.(760-762)AGC>AGG	p.S254R	UBE4B_uc001aqr.3_Missense_Mutation_p.S254R|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	254					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGGAACAAGCCCCATGTTCT	0.488			NA											9	40					0	0	0.006214	0	0
UBE4B	10277	broad.mit.edu	37	1	10165759	10165759	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:10165759A>G	uc001aqs.3	+	6	1479	c.766A>G	c.(766-768)ATG>GTG	p.M256V	UBE4B_uc001aqr.3_Missense_Mutation_p.M256V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	256					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AACAAGCCCCATGTTCTGCAG	0.493			NA											9	39					0	0	0.006214	0	0
C1orf127	148345	broad.mit.edu	37	1	11007869	11007869	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:11007869C>A	uc010oao.1	-	8	1881	c.1876G>T	c.(1876-1878)GTG>TTG	p.V626L	C1orf127_uc001arr.1_Missense_Mutation_p.V608L|C1orf127_uc001ars.1_Missense_Mutation_p.V600L	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	626										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)		TCAAGCTCCACCAGGCTGGGT	0.652			NA											4	16					0.00909568	0.00938674	0.009096	1	0
PTCHD2	57540	broad.mit.edu	37	1	11577656	11577656	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:11577656C>A	uc001ash.3	+	7	2024	c.1886C>A	c.(1885-1887)ACC>AAC	p.T629N	PTCHD2_uc001asi.1_Missense_Mutation_p.T629N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	629	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCTGCCAGACCAGGTAAGTC	0.597			NA											11	24					4.3838e-07	5.24836e-07	0.001855	1	0
LOC649330	649330	broad.mit.edu	37	1	12907748	12907748	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:12907748G>T	uc009vno.2	-	1	490	c.395C>A	c.(394-396)CCT>CAT	p.P132H	HNRNPCL1_uc010obf.1_Missense_Mutation_p.P132H	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	132							nucleic acid binding|nucleotide binding				0						GGGAGGAGGAGGAGGTACACG	0.498			NA											29	50					3.73988e-18	6.06849e-18	0.00632	1	0
PADI1	29943	broad.mit.edu	37	1	17556647	17556647	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:17556647A>G	uc001bah.1	+	9	1089	c.997A>G	c.(997-999)AAC>GAC	p.N333D		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	333					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATTGAAAGCCAACTGCAAGCT	0.527	Esophageal Squamous(80;414 1257 4580 27746 50832)		NA											15	58					0	0	0.004007	0	0
ARID1A	8289	broad.mit.edu	37	1	27097658	27097658	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:27097658G>T	uc001bmv.1	+	12	3620	c.3247G>T	c.(3247-3249)GGC>TGC	p.G1083C	ARID1A_uc001bmt.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmu.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmw.1_Missense_Mutation_p.G700C|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1083	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAATGTGGGCACATCAAG	0.483			NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								13	24					4.7546e-09	6.13344e-09	0.004007	1	0
GMEB1	10691	broad.mit.edu	37	1	29030811	29030811	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:29030811C>T	uc001bra.2	+	8	1006	c.868C>T	c.(868-870)CGG>TGG	p.R290W	GMEB1_uc001bqz.2_Missense_Mutation_p.R280W|GMEB1_uc001brb.2_Missense_Mutation_p.R280W	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTCAGCAGCGGCTCATCCA	0.448			NA											3	50					0	0	0.009096	0	0
C1orf94	84970	broad.mit.edu	37	1	34663274	34663274	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:34663274A>G	uc001bxs.3	+	2	598	c.199A>G	c.(199-201)AAG>GAG	p.K67E	C1orf94_uc001bxt.2_Missense_Mutation_p.K257E	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	67							protein binding				0		Myeloproliferative disorder(586;0.0393)				CCCTGACAACAAGAATGTGCT	0.557			NA											12	28					0	0	0.00245	0	0
SCMH1	22955	broad.mit.edu	37	1	41536268	41536268	+	Silent	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:41536268T>A	uc001cgo.2	-	10	1385	c.1074A>T	c.(1072-1074)ACA>ACT	p.T358T	SCMH1_uc010ojr.1_Silent_p.T200T|SCMH1_uc001cgp.2_Silent_p.T297T|SCMH1_uc001cgr.2_Silent_p.T297T|SCMH1_uc001cgs.2_Silent_p.T368T|SCMH1_uc001cgt.2_Silent_p.T297T|SCMH1_uc001cgq.2_Silent_p.T311T|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	358					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGCTCTTACCTGTTGGGGCCT	0.537			NA											24	68					0	0	0.008361	0	0
C1orf163	65260	broad.mit.edu	37	1	53153487	53153487	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:53153487C>T	uc001cui.1	-	3	641	c.601G>A	c.(601-603)GAT>AAT	p.D201N		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	201	Sel1-like 5.						binding				0						TCATCCTTATCAACACCATCC	0.507			NA											10	63					0	0	0.008291	0	0
SSBP3	23648	broad.mit.edu	37	1	54708962	54708962	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:54708962C>G	uc001cxe.2	-	10	960	c.662G>C	c.(661-663)AGC>ACC	p.S221T	SSBP3_uc001cxf.2_Missense_Mutation_p.S201T|SSBP3_uc001cxg.2_Missense_Mutation_p.S194T	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	221	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						TCTCATGCCGCTGCCGTAATT	0.423			NA											97	207					0	0	0.01441	0	0
C8A	731	broad.mit.edu	37	1	57383331	57383331	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:57383331C>T	uc001cyo.2	+	11	1829	c.1697C>T	c.(1696-1698)GCA>GTA	p.A566V		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	566	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						GACAATCCAGCACCTCAGAAT	0.582			NA											13	31					0	0	0.00499	0	0
LRRC7	57554	broad.mit.edu	37	1	70509696	70509696	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:70509696A>T	uc001dep.2	+	20	3945	c.3915A>T	c.(3913-3915)TCA>TCT	p.S1305S	LRRC7_uc009wbg.2_Silent_p.S589S|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1305						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GAGGTATTTCAGCAATGCATG	0.408			NA											18	56					0	0	0.007413	0	0
ELTD1	64123	broad.mit.edu	37	1	79357340	79357340	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:79357340G>C	uc001diq.3	-	14	2035	c.1879C>G	c.(1879-1881)CTC>GTC	p.L627V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	627	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGGTGCCGAGAAGGAACAGA	0.473			NA											8	38					0	0	0.00308	0	0
ABCA4	24	broad.mit.edu	37	1	94574223	94574223	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:94574223C>T	uc001dqh.2	-	4	456	c.352G>A	c.(352-354)GAG>AAG	p.E118K	ABCA4_uc010otn.1_Missense_Mutation_p.E118K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	118	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCTGGCTCTCTGGTGCATTC	0.448			NA											14	42					0	0	0.003163	0	0
AGL	178	broad.mit.edu	37	1	100316648	100316648	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:100316648A>T	uc001dsi.1	+	2	450	c.50A>T	c.(49-51)AAA>ATA	p.K17I	AGL_uc001dsj.1_Missense_Mutation_p.K17I|AGL_uc001dsk.1_Missense_Mutation_p.K17I|AGL_uc001dsl.1_Missense_Mutation_p.K17I|AGL_uc001dsm.1_5'UTR	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	17	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAATGGAGAAACTGGAAAAG	0.358			NA											32	52					0	0	0.006999	0	0
SYPL2	284612	broad.mit.edu	37	1	110022152	110022152	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:110022152A>T	uc001dxp.2	+	6	1167	c.801A>T	c.(799-801)GGA>GGT	p.G267G	SYPL2_uc010ovk.1_Silent_p.G203G	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	267	Cytoplasmic (Potential).					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGAGCAGGGAGCAGTGGAGA	0.468			NA											15	55					0	0	0.007413	0	0
VANGL1	81839	broad.mit.edu	37	1	116202368	116202368	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:116202368G>A	uc001efv.1	+	3	449	c.178G>A	c.(178-180)GAT>AAT	p.D60N	VANGL1_uc009wgy.1_Missense_Mutation_p.D60N|VANGL1_uc001efw.1_Missense_Mutation_p.D60N	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	60	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)		GTTGGGAAATGATTCTACTCG	0.488			NA											10	72					0	0	0.010729	0	0
HRNR	388697	broad.mit.edu	37	1	152187691	152187691	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152187691A>T	uc001ezt.1	-	3	6490	c.6414T>A	c.(6412-6414)TCT>TCA	p.S2138S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2138					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGATCTAGAGCCGTGTT	0.577			NA											18	577					0	0	0.005443	0	0
FLG	2312	broad.mit.edu	37	1	152285383	152285383	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152285383G>C	uc001ezu.1	-	3	2015	c.1979C>G	c.(1978-1980)CCC>CGC	p.P660R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	660	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)			ATGGGACCTGGGGTGTCTGGA	0.542			NA							Ichthyosis				77	318					0	0	0.01441	0	0
LCE2D	353141	broad.mit.edu	37	1	152636846	152636846	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152636846C>A	uc001fag.2	+	2	320	c.265C>A	c.(265-267)CCC>ACC	p.P89T		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	89	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACCAGAGCCCCGATTGCTG	0.667			NA											34	109					3.93418e-24	6.74431e-24	0.004289	1	0
ASH1L	55870	broad.mit.edu	37	1	155408305	155408305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:155408305C>A	uc009wqq.2	-	5	6121	c.5641G>T	c.(5641-5643)GAG>TAG	p.E1881*	ASH1L_uc001fkt.2_Nonsense_Mutation_p.E1881*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1881					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTCCTTCCTCGTCTCTGTTC	0.488			NA											41	40					8.69298e-16	1.35108e-15	0.006999	1	0
CD1E	913	broad.mit.edu	37	1	158325805	158325805	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:158325805A>T	uc001fse.2	+	4	1053	c.814A>T	c.(814-816)ACC>TCC	p.T272S	CD1E_uc010pid.1_Missense_Mutation_p.T270S|CD1E_uc010pie.1_Missense_Mutation_p.T173S|CD1E_uc010pif.1_Missense_Mutation_p.T83S|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.T182S|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.T83S|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.T272S|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.T83S|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.T173S|CD1E_uc001frz.2_Missense_Mutation_p.T182S|CD1E_uc009wsw.2_Missense_Mutation_p.T30S	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	272	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TCTCCGAGCAACCCTGGATGT	0.612			NA											34	155					0	0	0.006999	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517795	158517795	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:158517795G>T	uc010pil.1	-	1	101	c.101C>A	c.(100-102)TCC>TAC	p.S34Y		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CAGGAAAATGGAGAAAAAGAG	0.443			NA											9	25					5.4927e-09	7.06792e-09	0.004482	1	0
DARC	2532	broad.mit.edu	37	1	159176075	159176075	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:159176075G>T	uc001fto.2	+	2	1086	c.846G>T	c.(844-846)CTG>CTT	p.L282L	DARC_uc001ftp.3_Silent_p.L284L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	282	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					AGCAGGCTCTGGACCTGCTGC	0.582			NA											119	128					4.38445e-86	7.93816e-86	0.01441	1	0
TADA1	117143	broad.mit.edu	37	1	166839015	166839015	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:166839015G>A	uc001gdw.2	-	2	335	c.151C>T	c.(151-153)CTC>TTC	p.L51F	TADA1_uc009wve.2_Missense_Mutation_p.L51F	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	51					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						TCCTGTGTGAGAAGTCTATGA	0.353			NA											6	99					0	0	0.001168	0	0
FASLG	356	broad.mit.edu	37	1	172628584	172628584	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:172628584G>T	uc001gis.2	+	1	400	c.243G>T	c.(241-243)CTG>CTT	p.L81L	FASLG_uc001git.2_Silent_p.L81L	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	81	Helical; Signal-anchor for type II membrane protein; (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						GCACAGGCCTGTGTCTCCTTG	0.353	Ovarian(28;486 876 30334 44033)		NA											19	16					2.27525e-19	3.7509e-19	0.003954	1	0
TNR	7143	broad.mit.edu	37	1	175372661	175372661	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:175372661C>A	uc001gkp.1	-	2	672	c.591G>T	c.(589-591)AAG>AAT	p.K197N	TNR_uc009wwu.1_Missense_Mutation_p.K197N|TNR_uc010pmz.1_Missense_Mutation_p.K197N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	197	EGF-like 1.|Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CCGAGCAATTCTTGCCAAACC	0.577			NA											58	177					3.7469e-33	6.64399e-33	0.01441	1	0
PAPPA2	60676	broad.mit.edu	37	1	176640158	176640158	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:176640158C>T	uc001gkz.2	+	4	3208	c.2044C>T	c.(2044-2046)CAC>TAC	p.H682Y	PAPPA2_uc001gky.1_Missense_Mutation_p.H682Y|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	682	Metalloprotease.				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						GAACAGTACTCACTTCCTCAA	0.517			NA											14	185					0	0	0.004007	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708897	176708897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:176708897G>T	uc001gkz.2	+	13	5098	c.3934G>T	c.(3934-3936)GGA>TGA	p.G1312*	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1312					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						CCACTCTCTTGGTGAGTCTGA	0.483			NA											9	32					2.27111e-07	2.73807e-07	0.013537	1	0
LAMC1	3915	broad.mit.edu	37	1	183079686	183079686	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:183079686T>A	uc001gpy.3	+	4	1175	c.918T>A	c.(916-918)AAT>AAA	p.N306K		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	306	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGTGTAATTGCAAACATA	0.448			NA											69	106					0	0	0.01441	0	0
FAM129A	116496	broad.mit.edu	37	1	184777292	184777292	+	Silent	SNP	G	G	A	rs147120611	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:184777292G>A	uc001gra.2	-	10	1445	c.1251C>T	c.(1249-1251)CAC>CAT	p.H417H	FAM129A_uc001grb.1_Silent_p.H180H|FAM129A_uc009wyh.1_Silent_p.H245H|FAM129A_uc009wyi.1_Silent_p.H215H	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	417					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						GCAGGCGCTCGTGAAGCAGGT	0.512			NA											4	114					0	0	0.009096	0	0
HMCN1	83872	broad.mit.edu	37	1	185815174	185815174	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:185815174A>T	uc001grq.1	+	2	514	c.285A>T	c.(283-285)ACA>ACT	p.T95T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	95	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCCCAGTGACAATTACCACAG	0.363			NA											7	40					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	186022202	186022202	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:186022202G>C	uc001grq.1	+	43	6925	c.6696G>C	c.(6694-6696)AAG>AAC	p.K2232N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2232	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCTGGAAGAAGAAAGGTCAGT	0.308			NA											3	74					0	0	0.009096	0	0
HMCN1	83872	broad.mit.edu	37	1	186114890	186114890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:186114890G>T	uc001grq.1	+	93	14672	c.14443G>T	c.(14443-14445)GGA>TGA	p.G4815*	HMCN1_uc001grs.1_Nonsense_Mutation_p.G384*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4815	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACAGTGGATGGAAGTTGGGG	0.478			NA											8	81					1.12685e-05	1.29789e-05	0.004482	1	0
CRB1	23418	broad.mit.edu	37	1	197390932	197390932	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:197390932C>A	uc001gtz.2	+	6	2109	c.1974C>A	c.(1972-1974)ATC>ATA	p.I658I	CRB1_uc010poz.1_Silent_p.I589I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I546I|CRB1_uc010ppb.1_Silent_p.I658I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.I139I|CRB1_uc001gub.1_Silent_p.I307I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	658	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TGGAGAACATCTCGTCTGGCT	0.443			NA											24	98					1.55469e-16	2.46838e-16	0.00333	1	0
TNNT2	7139	broad.mit.edu	37	1	201334424	201334424	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:201334424C>G	uc001gwf.2	-	10	375	c.306G>C	c.(304-306)CGG>CGC	p.R102R	TNNT2_uc001gwg.2_Silent_p.R92R|TNNT2_uc001gwh.2_Silent_p.R87R|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Silent_p.R33R|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.R67R|TNNT2_uc001gwk.1_Silent_p.R33R|TNNT2_uc009wzt.1_Silent_p.R92R	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	102			R -> Q (in CMH2).|R -> W (in CMH2).|R -> L (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						CCATGCGCTTCCGGTGGATGT	0.577			NA											18	169					0	0	0.00333	0	0
IKBKE	9641	broad.mit.edu	37	1	206652443	206652443	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:206652443A>G	uc001hdz.1	+	10	1518	c.1150A>G	c.(1150-1152)ACA>GCA	p.T384A	IKBKE_uc009xbv.1_Missense_Mutation_p.T384A|IKBKE_uc001hea.1_Missense_Mutation_p.T299A	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	384					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CCTCTTCAGCACAGCCATCCC	0.597			NA											15	61					0	0	0.00499	0	0
LAMB3	3914	broad.mit.edu	37	1	209811879	209811879	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:209811879C>A	uc001hhg.2	-	3	688	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	LAMB3_uc009xco.2_Missense_Mutation_p.D100Y|LAMB3_uc001hhh.2_Missense_Mutation_p.D100Y|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.D100Y	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	100	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAATGCTCACCATTCTGTGAC	0.532			NA											33	44					1.90571e-15	2.93536e-15	0.004289	1	0
KCNK2	3776	broad.mit.edu	37	1	215259899	215259899	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:215259899G>A	uc001hkq.2	+	2	404	c.235G>A	c.(235-237)GTG>ATG	p.V79M	KCNK2_uc001hko.2_Missense_Mutation_p.V75M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.V64M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	79	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CGGAGCCACCGTGTTCAAAGC	0.473			NA											4	77					0	0	0.001168	0	0
KCNK2	3776	broad.mit.edu	37	1	215345448	215345448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:215345448G>T	uc001hkq.2	+	5	914	c.745G>T	c.(745-747)GAA>TAA	p.E249*	KCNK2_uc001hko.2_Nonsense_Mutation_p.E245*|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.E234*	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	249							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAAACACATAGAAGGCTGGAG	0.418			NA											24	81					1.33986e-20	2.2447e-20	0.004656	1	0
NUP133	55746	broad.mit.edu	37	1	229635556	229635556	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:229635556C>A	uc001htn.2	-	5	615	c.523G>T	c.(523-525)GTC>TTC	p.V175F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	175					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCAACCATGACAGCAACAGCC	0.448			NA											8	33					2.17888e-05	2.47099e-05	0.006214	1	0
AGT	183	broad.mit.edu	37	1	230846207	230846207	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:230846207C>A	uc001hty.3	-	2	898	c.390G>T	c.(388-390)GGG>GGT	p.G130G	AGT_uc009xfe.2_Silent_p.G130G|AGT_uc009xff.2_Silent_p.G102G	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	130					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GGACGGTGGCCCCATGGACCA	0.597			NA											31	103					2.42023e-17	3.89047e-17	0.003271	1	0
KIAA1804	84451	broad.mit.edu	37	1	233464558	233464558	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:233464558C>T	uc001hvt.3	+	1	1045	c.784C>T	c.(784-786)CGG>TGG	p.R262W	KIAA1804_uc001hvs.1_Missense_Mutation_p.R262W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	262	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CATCCTGCACCGGGACCTCAA	0.602			NA											3	16					0	0	0.004672	0	0
ACTN2	88	broad.mit.edu	37	1	236891015	236891015	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:236891015C>A	uc001hyf.2	+	6	778	c.574C>A	c.(574-576)CGA>AGA	p.R192R	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.R192R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	192	CH 2.|Actin-binding.				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)			CCTCATCCACCGACACCGGCC	0.547			NA											17	91					5.3912e-06	6.25137e-06	0.006122	1	0
ACTN2	88	broad.mit.edu	37	1	236911069	236911069	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:236911069C>A	uc001hyf.2	+	13	1713	c.1509C>A	c.(1507-1509)GCC>GCA	p.A503A	ACTN2_uc001hyg.2_Silent_p.A295A|ACTN2_uc009xgi.1_Silent_p.A503A|ACTN2_uc010pxu.1_Silent_p.A192A|ACTN2_uc001hyh.2_Silent_p.A191A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	503	Spectrin 2.				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)			GGAGAGAAGCCCTAGAGGTGA	0.428			NA											3	21					0.004672	0.00484087	0.004672	1	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159555	242159555	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:242159555G>T	uc001hzk.2	-	4	429	c.354C>A	c.(352-354)ACC>ACA	p.T118T		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	118					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGGAGGCGTAGGTCATGTACA	0.557			NA											17	90					1.74485e-21	2.96165e-21	0.007413	1	0
OR2G3	81469	broad.mit.edu	37	1	247769025	247769025	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:247769025C>G	uc010pyz.1	+	1	138	c.138C>G	c.(136-138)ATC>ATG	p.I46M		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCACCATAATCATCATCTCAT	0.463			NA											93	112					0	0	0.01441	0	0
TRIM58	25893	broad.mit.edu	37	1	248039386	248039386	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248039386G>T	uc001ido.2	+	6	1104	c.1056G>T	c.(1054-1056)GTG>GTT	p.V352V	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	352	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGTTCTGGTGGGAGAAGGAG	0.577			NA											25	38					1.75199e-13	2.62798e-13	0.007291	1	0
OR2T8	343172	broad.mit.edu	37	1	248085099	248085099	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248085099C>A	uc010pzc.1	+	1	780	c.780C>A	c.(778-780)CCC>CCA	p.P260P		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATATGAGACCCAAATCCCACA	0.488			NA											16	17					2.89027e-11	3.97701e-11	0.014323	1	0
OR2L2	26246	broad.mit.edu	37	1	248202392	248202392	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248202392G>A	uc001idw.2	+	1	919	c.823G>A	c.(823-825)GTT>ATT	p.V275I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	275	Helical; Name=7; (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)			GATTCTGGCTGTTTTCTACAC	0.488			NA											20	77					0	0	0.008871	0	0
OR2L2	26246	broad.mit.edu	37	1	248202407	248202407	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248202407C>A	uc001idw.2	+	1	934	c.838C>A	c.(838-840)CTC>ATC	p.L280I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	280	Helical; Name=7; (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)			CTACACCATCCTCACCCCAAT	0.468			NA											22	81					1.22574e-08	1.5502e-08	0.014323	1	0
OR2L13	284521	broad.mit.edu	37	1	248262809	248262809	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248262809G>C	uc001ids.2	+	3	469	c.132G>C	c.(130-132)ATG>ATC	p.M44I		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	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;0.0132)			ACTCGGCCATGATTCACCTCA	0.493			NA											86	89					0	0	0.01441	0	0
OR2M4	26245	broad.mit.edu	37	1	248402257	248402257	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248402257C>A	uc010pzh.1	+	1	27	c.27C>A	c.(25-27)AAC>AAA	p.N9K		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGACCTTCAACTCCATCTTCA	0.418			NA											29	66					4.31634e-10	5.78144e-10	0.012213	1	0
OR2T33	391195	broad.mit.edu	37	1	248436337	248436337	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:248436337G>T	uc010pzi.1	-	1	780	c.780C>A	c.(778-780)CCC>CCA	p.P260P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATGGGATTTGGGTCTCATAT	0.478			NA											6	106					1.64293e-13	2.47159e-13	0.00333	1	0
TUBB8	347688	broad.mit.edu	37	10	93866	93866	+	Silent	SNP	G	G	T	rs141258404		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:93866G>T	uc001ifi.2	-	4	466	c.466C>A	c.(466-468)CGG>AGG	p.R156R	TUBB8_uc009xhe.2_Silent_p.R119R|TUBB8_uc010pzs.1_Silent_p.R84R	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	156					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACTCCTCCCGGATCTTACTG	0.607	Pancreas(192;2041 3010 9013 18103)		NA											30	60					1.36615e-20	2.28133e-20	0.013726	1	0
PFKP	5214	broad.mit.edu	37	10	3141545	3141545	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:3141545G>T	uc001igp.2	+	3	300	c.264_splice	c.e3+1	p.V88_splice	PFKP_uc001igq.2_Splice_Site_p.G54_splice|PFKP_uc009xhr.2_Splice_Site_p.V50_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGCAAGTGGTAGGTACTGG	0.522			NA											29	95					2.46105e-21	4.16362e-21	0.010818	1	0
USP6NL	9712	broad.mit.edu	37	10	11504481	11504481	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:11504481T>G	uc001ikt.3	-	15	2767	c.2446A>C	c.(2446-2448)AAT>CAT	p.N816H	USP6NL_uc001iks.1_Missense_Mutation_p.N833H	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	816						intracellular	Rab GTPase activator activity				0						CCGTCCCGATTCCTGTAGTGG	0.507			NA											18	31					0	0	0.010504	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143171	12143171	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:12143171G>T	uc001ild.3	+	10	1986	c.1887G>T	c.(1885-1887)GGG>GGT	p.G629G		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	629					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATCAGAAGGGGTTTCTAGAGG	0.473			NA											8	11					0.00307968	0.00322991	0.00308	1	0
MSRB2	22921	broad.mit.edu	37	10	23408279	23408279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:23408279G>T	uc001iro.2	+	4	454	c.343G>T	c.(343-345)GAG>TAG	p.E115*		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2 precursor	115					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)	TTCGTTTTCCGAGGCTCATGG	0.498	Esophageal Squamous(89;1240 1363 4973 30188 42299)		NA											17	46					1.67942e-08	2.11877e-08	0.006122	1	0
ANKRD26	22852	broad.mit.edu	37	10	27303608	27303608	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:27303608C>G	uc001ith.2	-	31	4708	c.4536G>C	c.(4534-4536)CAG>CAC	p.Q1512H	ANKRD26_uc001itg.2_Missense_Mutation_p.Q1199H|ANKRD26_uc009xku.1_Missense_Mutation_p.Q1513H	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1512						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TCTCTCTAAACTGCTCTAAGT	0.333			NA											4	13					0	0	0.001984	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316484	30316484	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:30316484C>G	uc001iux.2	-	2	2652	c.2593G>C	c.(2593-2595)GAG>CAG	p.E865Q	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E727Q|KIAA1462_uc009xle.1_Missense_Mutation_p.E865Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	865										ovary(4)	4						TGCTGCGGCTCCGCCTCACTC	0.463			NA											5	62					0	0	0.001168	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089490	43089490	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:43089490C>A	uc001jaf.1	-	5	1023	c.908G>T	c.(907-909)TGT>TTT	p.C303F	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.C191F|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	303						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACTTTCACCACAATCATAGTG	0.383	Melanoma(137;1247 1767 16772 25727 43810)		NA											23	60					9.95505e-16	1.54258e-15	0.014323	1	0
PCDH15	65217	broad.mit.edu	37	10	55568867	55568867	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:55568867G>T	uc010qhs.1	-	37	5353	c.4958C>A	c.(4957-4959)ACA>AAA	p.T1653K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1646K|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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)				TTCTGACTCTGTGGATTCCGA	0.458			NA								HNSCC(58;0.16)			13	27					1.61879e-10	2.19238e-10	0.013537	1	0
FAM13C	220965	broad.mit.edu	37	10	61112086	61112086	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:61112086T>C	uc001jkn.2	-	4	402	c.268A>G	c.(268-270)AGG>GGG	p.R90G	FAM13C_uc001jko.2_Missense_Mutation_p.R90G|FAM13C_uc010qid.1_Missense_Mutation_p.R7G|FAM13C_uc010qie.1_Missense_Mutation_p.R7G|FAM13C_uc010qif.1_Missense_Mutation_p.R112G|FAM13C_uc001jkp.2_Missense_Mutation_p.R7G	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	90										ovary(2)	2						TTGGGCTTCCTGGACTTGAAG	0.592			NA											20	63					0	0	0.00278	0	0
STOX1	219736	broad.mit.edu	37	10	70646248	70646248	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:70646248A>T	uc001jos.2	+	3	2783	c.2696A>T	c.(2695-2697)CAA>CTA	p.Q899L	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.Q789L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	899						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CATTTCCCACAAAAGTTCCAA	0.438			NA											14	39					0	0	0.003163	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468463	72468463	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:72468463G>T	uc001jrh.2	+	4	799	c.799G>T	c.(799-801)GTG>TTG	p.V267L	ADAMTS14_uc001jrg.2_Missense_Mutation_p.V267L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	267	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTGCTGGTGGTGGACGACTC	0.607			NA											23	85					3.28513e-13	4.87105e-13	0.003954	1	0
USP54	159195	broad.mit.edu	37	10	75296160	75296160	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:75296160G>A	uc001juo.2	-	9	1028	c.1011C>T	c.(1009-1011)TGC>TGT	p.C337C	USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Silent_p.C337C|USP54_uc010qkl.1_Silent_p.C337C|USP54_uc001juq.1_Silent_p.C130C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	337					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GCCCCTTGATGCATTTGGTCA	0.483	Colon(195;880 2046 8854 25025 38456)		NA											22	85					0	0	0.005443	0	0
C10orf2	56652	broad.mit.edu	37	10	102753033	102753033	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:102753033G>C	uc001ksf.2	+	5	2496	c.1821G>C	c.(1819-1821)AAG>AAC	p.K607N	C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc010qpv.1_Missense_Mutation_p.K153N|C10orf2_uc001ksh.2_RNA	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	607	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCCAAGAACCGCTTTG	0.542			NA											10	131					0	0	0.008291	0	0
PPRC1	23082	broad.mit.edu	37	10	103907013	103907013	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:103907013C>T	uc001kum.2	+	9	4303	c.4264C>T	c.(4264-4266)CGC>TGC	p.R1422C	PPRC1_uc001kun.2_Missense_Mutation_p.R1302C|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1422	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				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)		CTGGCAGGGCCGCCGAGGCCG	0.617			NA											19	35					0	0	0.012319	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594607	104594607	+	Missense_Mutation	SNP	A	A	G	rs104894150		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:104594607A>G	uc001kwg.2	-	3	773	c.601T>C	c.(601-603)TAC>CAC	p.Y201H		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	201					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCTTCATTGTAATTCTGTATG	0.493			NA									OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	63					0	0	0.005443	0	0
C10orf79	80217	broad.mit.edu	37	10	105921783	105921783	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:105921783A>T	uc001kxw.2	-	26	3466	c.3350T>A	c.(3349-3351)CTC>CAC	p.L1117H	C10orf79_uc009xxq.2_Missense_Mutation_p.L425H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1117											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CAGAGCTCGGAGTCTTGTACT	0.478			NA											72	169					0	0	0.01441	0	0
MKI67	4288	broad.mit.edu	37	10	129901458	129901458	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr10:129901458C>T	uc001lke.2	-	13	8841	c.8646G>A	c.(8644-8646)ACG>ACA	p.T2882T	MKI67_uc001lkf.2_Silent_p.T2522T|MKI67_uc009yav.1_Silent_p.T2457T|MKI67_uc009yaw.1_Silent_p.T2032T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2882	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAAATGCTTTCGTGCCTTTGC	0.542			NA											9	104					0	0	0.010729	0	0
ANO9	338440	broad.mit.edu	37	11	433355	433355	+	Missense_Mutation	SNP	G	G	T	rs145003945	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:433355G>T	uc001lpi.2	-	4	394	c.309C>A	c.(307-309)CAC>CAA	p.H103Q	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	103	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CCAGCTCGGCGTGGGGGGCAG	0.642			NA											23	37					7.4402e-23	1.27124e-22	0.003954	1	0
ART1	417	broad.mit.edu	37	11	3681265	3681265	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:3681265C>A	uc001lye.1	+	3	617	c.516C>A	c.(514-516)CCC>CCA	p.P172P	ART1_uc009yeb.1_Silent_p.P172P	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	172					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCGTCCACCCCGGTGCCACC	0.692			NA											18	29					4.75885e-15	7.26499e-15	0.00499	1	0
OR52B4	143496	broad.mit.edu	37	11	4389414	4389414	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4389414C>T	uc010qye.1	-	1	112	c.112G>A	c.(112-114)GTC>ATC	p.V38I		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCGGTGACATAGGAAATG	0.527			NA											7	18					0	0	0.001984	0	0
OR51S1	119692	broad.mit.edu	37	11	4870090	4870090	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4870090C>T	uc010qyo.1	-	1	349	c.349G>A	c.(349-351)GTC>ATC	p.V117I		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	117	Helical; Name=3; (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)		GACTCCATGACAGAAAAGACA	0.557			NA											31	66					0	0	0.010818	0	0
OR51G2	81282	broad.mit.edu	37	11	4935983	4935983	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:4935983A>T	uc001lzr.1	-	1	911	c.911T>A	c.(910-912)ATC>AAC	p.I304N		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		TCGATCCCGGATCTGTTTGGT	0.473			NA											8	26					0	0	0.00308	0	0
OR52A1	23538	broad.mit.edu	37	11	5173074	5173074	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:5173074C>T	uc010qyy.1	-	1	526	c.526G>A	c.(526-528)GTC>ATC	p.V176I		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGAGATGACTGTTGTGTGA	0.433			NA											25	57					0	0	0.009535	0	0
SAA2	6289	broad.mit.edu	37	11	18269517	18269517	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:18269517C>G	uc001mnz.3	-	2	79	c.42G>C	c.(40-42)CTG>CTC	p.L14L	SAA2_uc009yhj.2_Silent_p.L14L	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	14					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTGACACTCAGGACCAAGG	0.517			NA											4	61					0	0	0.009096	0	0
IGSF22	283284	broad.mit.edu	37	11	18740270	18740270	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:18740270G>T	uc009yht.2	-	8	892	c.702C>A	c.(700-702)ATC>ATA	p.I234I	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	234	Ig-like 2.									ovary(4)|large_intestine(2)|kidney(1)	7						TCAGAATCCGGATGGCCTGAG	0.458			NA											20	52					2.89027e-11	3.97701e-11	0.014323	1	0
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55587463G>A	uc010rin.1	+	1	358	c.358G>A	c.(358-360)GCC>ACC	p.A120T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453			NA											30	95					0	0	0.008361	0	0
OR5L2	26338	broad.mit.edu	37	11	55594811	55594811	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55594811G>T	uc001nhy.1	+	1	117	c.117G>T	c.(115-117)TTG>TTT	p.L39F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAATC	0.507			NA								HNSCC(27;0.073)			12	237					4.93089e-13	7.29037e-13	0.00245	1	0
OR5T2	219464	broad.mit.edu	37	11	55999732	55999732	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:55999732G>T	uc010rjc.1	-	1	930	c.930C>A	c.(928-930)GAC>GAA	p.D310E		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	310	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACACTATCATGTCATGGTCCG	0.398			NA											23	83					1.04121e-07	1.28226e-07	0.005443	1	0
OR5M10	390167	broad.mit.edu	37	11	56344661	56344661	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:56344661G>A	uc001niz.1	-	1	537	c.537C>T	c.(535-537)TGC>TGT	p.C179C		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGGATCAGCGCAGTAGAAAT	0.468			NA											20	25					0	0	0.005443	0	0
OR10W1	81341	broad.mit.edu	37	11	58034615	58034615	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:58034615A>G	uc001nmq.1	-	1	1118	c.716T>C	c.(715-717)GTG>GCG	p.V239A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				CTGCAGCAGCACCACAGTGAG	0.582			NA											31	79					0	0	0.003755	0	0
MS4A14	84689	broad.mit.edu	37	11	60184092	60184092	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:60184092C>A	uc001npj.2	+	5	2216	c.1651C>A	c.(1651-1653)CAA>AAA	p.Q551K	MS4A14_uc001npi.2_Missense_Mutation_p.Q439K|MS4A14_uc001npn.2_Missense_Mutation_p.Q289K|MS4A14_uc001npk.2_Missense_Mutation_p.Q534K|MS4A14_uc001npl.2_Missense_Mutation_p.Q289K|MS4A14_uc001npm.2_Missense_Mutation_p.Q289K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	551	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						CGTAGATAAGCAAGCTCAACT	0.448			NA											10	25					0.000442599	0.000480803	0.006214	1	0
PAAF1	80227	broad.mit.edu	37	11	73625495	73625495	+	Silent	SNP	C	C	G	rs150921516		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:73625495C>G	uc001ouk.1	+	8	799	c.765C>G	c.(763-765)CTC>CTG	p.L255L	PAAF1_uc001oul.1_Silent_p.L238L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L238L	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	255					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					AAATGCTGCTCTTGGCCCGGG	0.502			NA											6	53					0	0	0.001984	0	0
RPS3	6188	broad.mit.edu	37	11	75115797	75115797	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:75115797A>G	uc001owh.2	+	6	650	c.620A>G	c.(619-621)CAC>CGC	p.H207R	RPS3_uc001owi.2_Missense_Mutation_p.H207R|RPS3_uc001owk.1_Missense_Mutation_p.H81R	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	207					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0						CTGCCTGACCACGTGAGCATT	0.582			NA											31	42					0	0	0.009535	0	0
CCDC89	220388	broad.mit.edu	37	11	85396231	85396231	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:85396231C>G	uc001pau.1	-	1	1090	c.943G>C	c.(943-945)GAG>CAG	p.E315Q		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	315	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCCTCTTGCTCAAACCGCTCC	0.522			NA											24	40					0	0	0.003954	0	0
EED	8726	broad.mit.edu	37	11	85967511	85967511	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:85967511G>T	uc001pbp.2	+	5	966	c.509G>T	c.(508-510)GGC>GTC	p.G170V	EED_uc010rtm.1_Missense_Mutation_p.G170V|EED_uc001pbq.2_Missense_Mutation_p.G170V|EED_uc001pbr.2_Missense_Mutation_p.G170V|EED_uc001pbs.2_Missense_Mutation_p.G170V|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	170	Interaction with EZH2 (By similarity).|WD 2.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.G170S(1)		skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCTAGAGGCATAATTAGG	0.373			NA											10	25					4.84862e-15	7.38019e-15	0.010729	1	0
BIRC2	329	broad.mit.edu	37	11	102221329	102221329	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:102221329A>G	uc001pgy.2	+	2	2143	c.744A>G	c.(742-744)CCA>CCG	p.P248P	BIRC2_uc010ruq.1_Silent_p.P199P|BIRC2_uc010rur.1_Silent_p.P248P	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	248	BIR 2.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CCAACTGTCCATTTTTGGAAA	0.448			NA											14	52					0	0	0.004007	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035499	110035499	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:110035499G>A	uc009yxw.2	+	6	1740	c.1689G>A	c.(1687-1689)ATG>ATA	p.M563I	ZC3H12C_uc010rwc.1_Missense_Mutation_p.M564I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.M564I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.M532I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	563							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTCAATGATGATGGCAACCA	0.423			NA											12	26					0	0	0.001855	0	0
NCAM1	4684	broad.mit.edu	37	11	113078567	113078567	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:113078567G>A	uc009yyq.1	+	7	1099	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q	NCAM1_uc001pno.2_Silent_p.Q135Q	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	253	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATGGGGAACAGATAGAGCAAG	0.423			NA											3	5					0	0	0.004672	0	0
SLC37A4	2542	broad.mit.edu	37	11	118898449	118898449	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:118898449G>C	uc010rys.1	-	5	1272	c.515C>G	c.(514-516)TCT>TGT	p.S172C	SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.S172C|SLC37A4_uc010ryt.1_Missense_Mutation_p.S99C|SLC37A4_uc001pus.2_Missense_Mutation_p.S172C	NM_001164277	NP_001157749	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate	172	Helical; (Potential).				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity			large_intestine(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGTGCCCCAGATAGGGCCAG	0.602			NA							Glycogen_Storage_Disease_type_Ib				5	19					0	0	0.000602	0	0
TRIM29	23650	broad.mit.edu	37	11	119998221	119998221	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:119998221C>A	uc001pwz.2	-	3	1081	c.957G>T	c.(955-957)CGG>CGT	p.R319R	TRIM29_uc010rzi.1_Silent_p.R58R|TRIM29_uc010rzj.1_Silent_p.R52R|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	319	Potential.				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCTCCAGGTCCCGCACCAGGT	0.567			NA											16	55					4.7546e-09	6.13344e-09	0.004007	1	0
ATF7IP	55729	broad.mit.edu	37	12	14610230	14610230	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:14610230G>T	uc001rbw.2	+	8	2316	c.2158_splice	c.e8+1	p.V720_splice	ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.2_Splice_Site_p.V720_splice|ATF7IP_uc001rbv.1_Splice_Site_p.V719_splice|ATF7IP_uc001rbx.2_Splice_Site_p.V719_splice|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.3_Splice_Site_p.V720_splice|ATF7IP_uc001rca.2_Splice_Site_p.V720_splice	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GTGAATACAGGTAACTTTTTT	0.348			NA											3	13					0.004672	0.00484087	0.004672	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	6					0.000673444	0.000722447	0.008291	1	0
ALG10	84920	broad.mit.edu	37	12	34179612	34179612	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:34179612G>T	uc001rlm.2	+	3	1503	c.1184G>T	c.(1183-1185)TGG>TTG	p.W395L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	395	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAATTTTTTGGAATTTAATG	0.303			NA											17	51					5.35267e-07	6.39346e-07	0.007413	1	0
MLL2	8085	broad.mit.edu	37	12	49447314	49447314	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:49447314C>A	uc001rta.3	-	6	784	c.784G>T	c.(784-786)GCC>TCC	p.A262S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	262	Cys-rich.|PHD-type 1.|RING-type 1; atypical.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CGTTTGCGGGCAGTCAGAGCA	0.582			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			5	8					0.000602214	0.000650089	0.000602	1	0
OR9K2	441639	broad.mit.edu	37	12	55523560	55523560	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:55523560G>T	uc010spe.1	+	1	8	c.8G>T	c.(7-9)GGA>GTA	p.G3V		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GTAATGCTAGGATCCAAACCA	0.333			NA											12	46					0.00010058	0.000111133	0.013537	1	0
FAM19A2	338811	broad.mit.edu	37	12	62148676	62148676	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:62148676C>A	uc001sqw.2	-	3	1749	c.236G>T	c.(235-237)CGA>CTA	p.R79L	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.R79L|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	79						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502			NA											8	42					0.000442599	0.000480803	0.006214	1	0
PPFIA2	8499	broad.mit.edu	37	12	81741445	81741445	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:81741445G>T	uc001szo.1	-	18	2260	c.2099C>A	c.(2098-2100)CCA>CAA	p.P700Q	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	626										ovary(3)|lung(2)|pancreas(1)	6						GGAGGTACCTGGGTGGACCCT	0.512			NA											30	104					8.16721e-17	1.3007e-16	0.010818	1	0
C12orf12	196477	broad.mit.edu	37	12	91348430	91348430	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:91348430G>C	uc001tbj.2	-	1	524	c.90C>G	c.(88-90)GCC>GCG	p.A30A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	30										central_nervous_system(1)|pancreas(1)	2						AGCTCAAGGAGGCCGAGTGTG	0.512			NA											5	11					0	0	0.000602	0	0
LUM	4060	broad.mit.edu	37	12	91502420	91502420	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:91502420A>T	uc001tbm.2	-	2	726	c.337T>A	c.(337-339)TCT>ACT	p.S113T	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	113	LRR 2.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						TTCAATTTAGAGAAAACTCTC	0.418			NA											11	31					0	0	0.008291	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686252	108686252	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:108686252A>T	uc009zuw.2	-	3	679	c.488T>A	c.(487-489)ATC>AAC	p.I163N	CMKLR1_uc001tmw.2_Missense_Mutation_p.I163N|CMKLR1_uc001tmv.2_Missense_Mutation_p.I161N|CMKLR1_uc009zuv.2_Missense_Mutation_p.I163N	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	163	Helical; Name=4; (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						CAGGACCCAGATGACCATGCA	0.562			NA											21	62					0	0	0.014323	0	0
CUX2	23316	broad.mit.edu	37	12	111748436	111748436	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:111748436C>T	uc001tsa.1	+	15	2003	c.1850C>T	c.(1849-1851)TCG>TTG	p.S617L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	617	CUT 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CAGTTCCTGTCGGATGAGCAG	0.637			NA											10	38					0	0	0.006214	0	0
TBX5	6910	broad.mit.edu	37	12	114841655	114841655	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:114841655G>T	uc001tvo.2	-	2	544	c.49C>A	c.(49-51)CCT>ACT	p.P17T	TBX5_uc001tvp.2_Missense_Mutation_p.P17T|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.P17T	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	17				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGCGTCAGGCTCCAGAGGC	0.687	NSCLC(152;1358 1980 4050 23898 40356)		NA											9	27					2.17888e-05	2.47099e-05	0.006214	1	0
MED13L	23389	broad.mit.edu	37	12	116534519	116534519	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:116534519C>A	uc001tvw.2	-	4	489	c.434G>T	c.(433-435)TGG>TTG	p.W145L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	145					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCGGACAAACCATTTCCCAAT	0.388			NA											14	44					9.16793e-09	1.16519e-08	0.00499	1	0
PEBP1	5037	broad.mit.edu	37	12	118575880	118575880	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:118575880C>G	uc001twu.1	+	2	317	c.172C>G	c.(172-174)CTT>GTT	p.L58V	PEBP1_uc010szc.1_Missense_Mutation_p.L58V	NM_002567	NP_002558	P30086	PEBP1_HUMAN	prostatic binding protein	58							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	p.L58V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATGGTCTTGATTCAGG	0.448	NSCLC(44;94 1357 12187 49467)		NA						Direct_reversal_of_damage					3	26					0	0	0.004672	0	0
TAOK3	51347	broad.mit.edu	37	12	118610414	118610414	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:118610414A>G	uc001twx.2	-	17	2042	c.1747T>C	c.(1747-1749)TCC>CCC	p.S583P	TAOK3_uc001twv.2_Missense_Mutation_p.S123P|TAOK3_uc001tww.2_Missense_Mutation_p.S413P|TAOK3_uc001twy.3_Missense_Mutation_p.S583P	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	583	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATGTTTGGAGATCCGCTCT	0.433			NA											39	118					0	0	0.011902	0	0
GCN1L1	10985	broad.mit.edu	37	12	120569106	120569106	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:120569106C>T	uc001txo.2	-	55	7459	c.7446G>A	c.(7444-7446)CGG>CGA	p.R2482R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2482					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGCCCGTGCCGAACCATCC	0.572			NA											3	81					0	0	0.000602	0	0
PITPNM2	57605	broad.mit.edu	37	12	123474421	123474421	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:123474421T>G	uc001uej.1	-	17	2783	c.2644A>C	c.(2644-2646)ACC>CCC	p.T882P	PITPNM2_uc001uek.1_Intron	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	882	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGGGGTGGTGGGGCTGGGG	0.687			NA											8	23					0	0	0.006214	0	0
SBNO1	55206	broad.mit.edu	37	12	123780484	123780484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:123780484G>A	uc010tap.1	-	31	4153	c.4153C>T	c.(4153-4155)CAG>TAG	p.Q1385*	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Nonsense_Mutation_p.Q1384*|SBNO1_uc010taq.1_Nonsense_Mutation_p.Q336*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1385							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTGATGCTCTGAGGGTGATGC	0.443			NA											32	227					0	0	0.013726	0	0
MMP17	4326	broad.mit.edu	37	12	132325149	132325149	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr12:132325149G>T	uc001ujc.1	+	4	553	c.454G>T	c.(454-456)GGG>TGG	p.G152W	MMP17_uc001ujd.1_Missense_Mutation_p.G68W	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	152					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTCACCACTGGGGCACGACAC	0.667			NA											29	68					5.8336e-16	9.14936e-16	0.003271	1	0
KIAA0564	23078	broad.mit.edu	37	13	42295619	42295619	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:42295619T>C	uc001uyj.2	-	25	2921	c.2851A>G	c.(2851-2853)ATC>GTC	p.I951V	KIAA0564_uc001uyk.2_Missense_Mutation_p.I951V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	951						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTCTGAAGGATGGGCTCAGGC	0.468			NA											24	37					0	0	0.003954	0	0
DGKH	160851	broad.mit.edu	37	13	42742644	42742644	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:42742644G>T	uc001uyl.1	+	10	1208	c.1187G>T	c.(1186-1188)TGG>TTG	p.W396L	DGKH_uc010tfh.1_Missense_Mutation_p.W396L|DGKH_uc001uym.1_Missense_Mutation_p.W396L|DGKH_uc010tfi.1_Missense_Mutation_p.W151L|DGKH_uc010tfj.1_Missense_Mutation_p.W251L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.W251L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	396	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGTGTAGGTTGGGTTTTGTCA	0.333			NA											7	16					0.00010058	0.000111133	0.013537	1	0
SPERT	220082	broad.mit.edu	37	13	46288187	46288187	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:46288187G>A	uc001van.1	+	3	1107	c.1027G>A	c.(1027-1029)GCC>ACC	p.A343T	SPERT_uc001vao.2_Missense_Mutation_p.A307T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	343						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGAGGAGGAGGCCAAGGTGGG	0.711			NA											3	4					0	0	0.009096	0	0
KPNA3	3839	broad.mit.edu	37	13	50276609	50276609	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:50276609C>T	uc001vdj.2	-	16	1795	c.1380G>A	c.(1378-1380)GAG>GAA	p.E460E		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	460	ARM 10; atypical.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTTCAATTTTCTCCAAACCTG	0.279			NA											4	12					0	0	0.000602	0	0
CKAP2	26586	broad.mit.edu	37	13	53039580	53039580	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr13:53039580G>A	uc001vgv.2	+	6	1656	c.1459G>A	c.(1459-1461)GCC>ACC	p.A487T	CKAP2_uc001vgt.2_Missense_Mutation_p.A486T|CKAP2_uc001vgu.2_Missense_Mutation_p.A486T|CKAP2_uc010tha.1_Missense_Mutation_p.A438T	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	487					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTATGAGAAAGCCATTCTGGC	0.328			NA											7	25					0	0	0.001984	0	0
RNASE12	493901	broad.mit.edu	37	14	21058461	21058461	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:21058461C>G	uc001vxt.2	-	1	522	c.422G>C	c.(421-423)AGT>ACT	p.S141T	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	141						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GCCAAGGAAACTATCTGGCCT	0.502			NA											15	14					0	0	0.003163	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538031	24538031	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:24538031C>A	uc001wlj.2	+	38	3995	c.3838C>A	c.(3838-3840)CCA>ACA	p.P1280T	LRRC16B_uc001wlk.2_Missense_Mutation_p.P333T|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1280										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GCCTCCCAAGCCAGTGGCTGT	0.642			NA											12	13					1.05317e-09	1.38632e-09	0.00245	1	0
PRKD1	5587	broad.mit.edu	37	14	30047522	30047522	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:30047522G>A	uc001wqh.2	-	17	2660	c.2479C>T	c.(2479-2481)CGC>TGC	p.R827C		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	827	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACACTGTAGCGCTTTCTCATT	0.328			NA											5	9					0	0	0.001984	0	0
NIN	51199	broad.mit.edu	37	14	51226934	51226934	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:51226934C>G	uc001wym.2	-	17	2231	c.2040G>C	c.(2038-2040)CAG>CAC	p.Q680H	NIN_uc001wyi.2_Missense_Mutation_p.Q680H|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q680H|NIN_uc010tqp.1_Missense_Mutation_p.Q686H|NIN_uc001wyo.2_Missense_Mutation_p.Q680H	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	680	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGCTTGCCCCTGAAGTTCAG	0.458			NA	T	PDGFRB	MPD								31	55					0	0	0.013726	0	0
PELI2	57161	broad.mit.edu	37	14	56585389	56585389	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:56585389C>G	uc001xch.2	+	1	297	c.11C>G	c.(10-12)CCT>CGT	p.P4R		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	4					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						ATGTTTTCCCCTGGCCAGGAG	0.552			NA											3	5					0	0	0.004672	0	0
SYNE2	23224	broad.mit.edu	37	14	64675542	64675542	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:64675542C>G	uc001xgm.2	+	101	18498	c.18268C>G	c.(18268-18270)CTA>GTA	p.L6090V	SYNE2_uc001xgl.2_Missense_Mutation_p.L6090V|SYNE2_uc010apy.2_Missense_Mutation_p.L2475V|SYNE2_uc001xgn.2_Missense_Mutation_p.L1052V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.L60V|SYNE2_uc001xgq.2_Missense_Mutation_p.L455V|SYNE2_uc001xgr.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6090	Cytoplasmic (Potential).|Spectrin 6.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGACGTCCTACTGCACGA	0.512			NA											31	52					0	0	0.003271	0	0
ESRRB	2103	broad.mit.edu	37	14	76906004	76906004	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:76906004G>T	uc001xsq.1	+	2	375	c.308G>T	c.(307-309)TGC>TTC	p.C103F	ESRRB_uc001xsr.2_Missense_Mutation_p.C103F|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAGCGCCTGTGCCTCGTGTGC	0.617			NA											8	23					1.06961e-07	1.30787e-07	0.00308	1	0
VASH1	22846	broad.mit.edu	37	14	77242564	77242564	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:77242564G>A	uc001xst.2	+	5	1790	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	287					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CGCCTGGGCCGCGATGACTTC	0.557			NA											3	20					0	0	0.009096	0	0
POMT2	29954	broad.mit.edu	37	14	77772688	77772688	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:77772688T>A	uc001xti.2	-	3	631	c.430A>T	c.(430-432)ATG>TTG	p.M144L	POMT2_uc010asr.2_Missense_Mutation_p.M33L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	144					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACTCCTCTCATTCCCATGTAG	0.488			NA											8	30					0	0	0.006214	0	0
TTC7B	145567	broad.mit.edu	37	14	91196419	91196420	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:91196419_91196420CC>AA	uc001xyp.2	-	5	819_820	c.697_698GG>TT	c.(697-699)GGG>TTG	p.G233L		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	233	TPR 2.						binding			ovary(2)	2		Melanoma(154;0.222)				GATGGCTTACCCATTTTTGAAA	0.386			NA											24	41					0	0	0.004672	0	0
BCL11B	64919	broad.mit.edu	37	14	99642443	99642443	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:99642443G>T	uc001yga.2	-	4	997	c.730C>A	c.(730-732)CAC>AAC	p.H244N	BCL11B_uc001ygb.2_Missense_Mutation_p.H173N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	244	C2H2-type 1.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGAAGCCGTGCGTGTTCTGC	0.662			NA	T	TLX3	T-ALL								5	23					3.59834e-05	4.0718e-05	0.001168	1	0
CYFIP1	23191	broad.mit.edu	37	15	22969346	22969346	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:22969346A>T	uc001yus.2	+	22	2676	c.2572A>T	c.(2572-2574)AAC>TAC	p.N858Y	CYFIP1_uc001yut.2_Missense_Mutation_p.N858Y|CYFIP1_uc010aya.1_Missense_Mutation_p.N886Y|CYFIP1_uc001yuu.2_Missense_Mutation_p.N427Y|CYFIP1_uc001yuv.2_Missense_Mutation_p.N52Y	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	858					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTACTGCTACAACGGCTCTAC	0.637			NA											27	65					0	0	0.012213	0	0
MEIS2	4212	broad.mit.edu	37	15	37187382	37187382	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:37187382C>A	uc001zjr.2	-	11	2154	c.1117G>T	c.(1117-1119)GGT>TGT	p.G373C	MEIS2_uc001zjl.2_Missense_Mutation_p.G360C|MEIS2_uc010ucj.1_Missense_Mutation_p.G353C|MEIS2_uc001zjm.2_Missense_Mutation_p.G278C|MEIS2_uc001zjn.2_Missense_Mutation_p.G227C|MEIS2_uc001zjo.2_Missense_Mutation_p.G373C|MEIS2_uc001zjp.2_Missense_Mutation_p.G366C|MEIS2_uc001zjs.2_Missense_Mutation_p.G366C|MEIS2_uc001zju.2_Missense_Mutation_p.G353C|MEIS2_uc001zjt.2_Missense_Mutation_p.G366C|MEIS2_uc001zjj.2_Missense_Mutation_p.G69C|MEIS2_uc001zjk.2_Missense_Mutation_p.G62C	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	373					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGTTGCTGACCATCCAACACA	0.572			NA											32	93					2.51541e-25	4.34098e-25	0.004878	1	0
CAPN3	825	broad.mit.edu	37	15	42676714	42676714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:42676714G>T	uc001zpn.1	+	2	649	c.343G>T	c.(343-345)GGA>TGA	p.G115*	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udf.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udg.1_Nonsense_Mutation_p.G28*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.G115*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.G115*	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	115	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TATCATTGATGGAGCCAACAG	0.388			NA											16	37					3.32936e-07	3.99523e-07	0.006122	1	0
RASL12	51285	broad.mit.edu	37	15	65357604	65357604	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:65357604G>A	uc002aoi.1	-	2	326	c.111C>T	c.(109-111)ACC>ACT	p.T37T	RASL12_uc002aoj.1_Intron|RASL12_uc010uir.1_Silent_p.T26T	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	37					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						GAAACTTCACGGTCAGGGCTG	0.532			NA											3	15					0	0	0.004672	0	0
C15orf44	81556	broad.mit.edu	37	15	65899529	65899529	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:65899529C>T	uc002apd.2	-	2	526	c.190G>A	c.(190-192)GTC>ATC	p.V64I	C15orf44_uc010uix.1_Missense_Mutation_p.V100I|C15orf44_uc010uiz.1_Missense_Mutation_p.V64I|C15orf44_uc010uja.1_Intron|C15orf44_uc010ujb.1_Intron|C15orf44_uc002ape.3_Missense_Mutation_p.V64I|C15orf44_uc010uiy.1_Intron|C15orf44_uc010ujc.1_Missense_Mutation_p.V64I	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	64	VWFA.									ovary(1)	1						GTGAAGGGGACCATCAACTCC	0.388			NA											9	23					0	0	0.010729	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921882	78921882	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:78921882G>T	uc002bed.1	-	5	877	c.765C>A	c.(763-765)TAC>TAA	p.Y255*	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Nonsense_Mutation_p.Y73*	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	255	Helical; (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CGGATGGCAGGTAGAAGACGA	0.547			NA											26	87					9.57634e-11	1.31071e-10	0.00333	1	0
BNC1	646	broad.mit.edu	37	15	83926689	83926689	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:83926689C>A	uc002bjt.1	-	5	2578	c.2490G>T	c.(2488-2490)CTG>CTT	p.L830L	BNC1_uc010uos.1_Silent_p.L818L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	830					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTGGGTAAACCAGACTGCCCA	0.517			NA											21	73					1.42536e-11	2.00952e-11	0.004656	1	0
Unknown	0	broad.mit.edu	37	15	102291827	102291827	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:102291827G>T	uc010usj.1	+	3	194	c.135G>T	c.(133-135)CAG>CAT	p.Q45H	uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;												NA						AAACCACCCAGAACCTGGTGG	0.537			NA											11	37					2.32078e-09	3.01644e-09	0.003163	1	0
Unknown	0	broad.mit.edu	37	15	102292820	102292820	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr15:102292820G>C	uc010usj.1	+	4	467	c.408G>C	c.(406-408)ACG>ACC	p.T136T	uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;												NA						GCGTGGGAACGAGAAGACACT	0.592			NA											3	21					0	0	0.000602	0	0
RAB40C	57799	broad.mit.edu	37	16	640413	640413	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:640413C>T	uc002chr.2	+	1	238	c.122C>T	c.(121-123)TCC>TTC	p.S41F	RAB40C_uc002chq.2_Missense_Mutation_p.S41F	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				GCGGCAGAGTCCCCGTACGCC	0.612	Melanoma(123;1631 1690 28262 44104 44957)		NA											4	22					0	0	0.009096	0	0
GNG13	51764	broad.mit.edu	37	16	849032	849033	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:849032_849033GG>TT	uc002ckh.3	-	2	147_148	c.45_46CC>AA	c.(43-48)AGCCTC>AGAATC	p.15_16SL>RI		NM_016541	NP_057625	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein),	15_16					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity				0		Hepatocellular(780;0.00335)				TGGTACTTGAGGCTCTCCACCT	0.624			NA											12	28					0	0	0.004672	0	0
MLST8	64223	broad.mit.edu	37	16	2256185	2256185	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:2256185C>T	uc002coz.2	+	2	218	c.99C>T	c.(97-99)ATC>ATT	p.I33I	MLST8_uc002coy.2_Silent_p.I33I|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.I33I|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.I33I|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.I33I|MLST8_uc010uvy.1_Silent_p.I33I|MLST8_uc002cpg.2_Silent_p.I52I|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.I33I	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	33	WD 1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						ACAGCGGCATCTGCACCCGGA	0.697			NA											25	51					0	0	0.005443	0	0
PPL	5493	broad.mit.edu	37	16	4934221	4934221	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4934221C>T	uc002cyd.1	-	22	4525	c.4435G>A	c.(4435-4437)GAG>AAG	p.E1479K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1479	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTCTCGAGCTCCCCCTCCAGG	0.657			NA											5	75					0	0	0.000602	0	0
PPL	5493	broad.mit.edu	37	16	4934286	4934286	+	Missense_Mutation	SNP	C	C	T	rs143676756	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4934286C>T	uc002cyd.1	-	22	4460	c.4370G>A	c.(4369-4371)CGA>CAA	p.R1457Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1457	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GGCATGCTCTCGCGCCTGCTG	0.662			NA											11	103					0	0	0.001855	0	0
PPL	5493	broad.mit.edu	37	16	4935596	4935596	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:4935596C>A	uc002cyd.1	-	22	3150	c.3060G>T	c.(3058-3060)CTG>CTT	p.L1020L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1020	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TCTGCCGCCTCAGTGCCTCCA	0.687			NA											26	58					7.92952e-12	1.12408e-11	0.003954	1	0
GRIN2A	2903	broad.mit.edu	37	16	10274009	10274009	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:10274009C>A	uc002czo.3	-	2	808	c.260G>T	c.(259-261)TGC>TTC	p.C87F	GRIN2A_uc010uym.1_Missense_Mutation_p.C87F|GRIN2A_uc002czr.3_Missense_Mutation_p.C87F|GRIN2A_uc010buk.2_Missense_Mutation_p.C87F	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	87	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATGAGGTCGCACACGTGCGT	0.657			NA											27	76					2.80507e-11	3.90139e-11	0.012213	1	0
MYH11	4629	broad.mit.edu	37	16	15850236	15850237	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:15850236_15850237CC>AA	uc002ddy.2	-	14	1817_1818	c.1710_1711GG>TT	c.(1708-1713)AAGGAC>AATTAC	p.570_571KD>NY	MYH11_uc002ddv.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc002ddw.2_Missense_Mutation_p.570_571KD>NY|MYH11_uc002ddx.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc010bvg.2_Missense_Mutation_p.402_403KD>NY|MYH11_uc002dea.1_Missense_Mutation_p.276_277KD>NY	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	570_571	Myosin head-like.				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						TCAGTCTTGTCCTTGAGCTGCT	0.594			NA	T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	35					0	0	0.004672	0	0
SMG1	23049	broad.mit.edu	37	16	18849510	18849510	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:18849510C>A	uc002dfm.2	-	45	7602	c.7239G>T	c.(7237-7239)CTG>CTT	p.L2413L	SMG1_uc010bwb.2_Silent_p.L2273L|SMG1_uc010bwa.2_Silent_p.L1144L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2413	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						AGGCCTCCAGCAGCGTCAGCA	0.537			NA											4	14					0.00116845	0.00124057	0.001168	1	0
TMC7	79905	broad.mit.edu	37	16	19056725	19056725	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:19056725C>G	uc002dfq.2	+	11	1648	c.1518C>G	c.(1516-1518)ATC>ATG	p.I506M	TMC7_uc002dfp.2_Missense_Mutation_p.I506M|TMC7_uc010vap.1_Missense_Mutation_p.I396M	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	506	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						TCATCATCATCTTGGCTGTGA	0.408			NA											9	58					0	0	0.010729	0	0
GP2	2813	broad.mit.edu	37	16	20327339	20327339	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:20327339G>C	uc002dgv.2	-	10	1532	c.1449C>G	c.(1447-1449)CGC>CGG	p.R483R	GP2_uc002dgw.2_Silent_p.R480R|GP2_uc002dgx.2_Silent_p.R336R|GP2_uc002dgy.2_Silent_p.R333R	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	483	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						GTACTTCACTGCGGACTTGAC	0.483			NA											24	61					0	0	0.005443	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494388	20494388	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:20494388G>A	uc010bwe.2	+	14	1757	c.1518G>A	c.(1516-1518)AAG>AAA	p.K506K	ACSM2A_uc002dhf.3_Silent_p.K506K|ACSM2A_uc002dhg.3_Silent_p.K506K|ACSM2A_uc010vay.1_Silent_p.K427K|ACSM2A_uc002dhh.3_Silent_p.K136K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	506					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						AGGTGGTGAAGGCATTTGTGG	0.498			NA											41	93					0	0	0.013114	0	0
GTF3C1	2975	broad.mit.edu	37	16	27473778	27473778	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:27473778C>A	uc002dov.1	-	36	5994	c.5954G>T	c.(5953-5955)CGG>CTG	p.R1985L	GTF3C1_uc002dou.2_Missense_Mutation_p.R1960L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1985						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ACGCCACGGCCGGCCGATGAA	0.612			NA											7	26					0.000157383	0.000172787	0.00308	1	0
MAPK3	5595	broad.mit.edu	37	16	30129733	30129733	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:30129733G>A	uc002dws.2	-	3	580	c.480C>T	c.(478-480)GCC>GCT	p.A160A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Silent_p.A46A|MAPK3_uc002dwv.3_Silent_p.A160A|MAPK3_uc002dwt.2_Silent_p.A160A|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	160	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGAGCACGTTGGCGGAGTGGA	0.567			NA											4	82					0	0	0.000602	0	0
ITGAL	3683	broad.mit.edu	37	16	30528393	30528393	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:30528393T>A	uc002dyi.3	+	26	3138	c.2962T>A	c.(2962-2964)TGG>AGG	p.W988R	ITGAL_uc002dyj.3_Missense_Mutation_p.W904R|ITGAL_uc010vev.1_Missense_Mutation_p.W222R	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	988	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CACACACCAGTGGAGCGTGCA	0.607	NSCLC(110;1462 1641 3311 33990 49495)		NA											31	77					0	0	0.008361	0	0
ZNF423	23090	broad.mit.edu	37	16	49670231	49670231	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:49670231C>A	uc002efs.2	-	5	3130	c.2832G>T	c.(2830-2832)GGG>GGT	p.G944G	ZNF423_uc010vgn.1_Silent_p.G827G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	944	C2H2-type 22.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCTCCCGTAGCCCGTTCTCCG	0.592			NA											18	41					0.00188189	0.00199395	0.012319	1	0
ADCY7	113	broad.mit.edu	37	16	50339437	50339437	+	Missense_Mutation	SNP	C	C	T	rs142217351		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:50339437C>T	uc002egd.1	+	12	1887	c.1619C>T	c.(1618-1620)TCG>TTG	p.S540L	ADCY7_uc002egc.1_Missense_Mutation_p.S540L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	540	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 ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AAGGGGCGGTCGGAGGATGAC	0.597			NA											19	172					0	0	0.010504	0	0
FTO	79068	broad.mit.edu	37	16	53878094	53878094	+	Missense_Mutation	SNP	C	C	G	rs76762929	by1000genomes	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:53878094C>G	uc002ehr.2	+	4	1001	c.779C>G	c.(778-780)TCT>TGT	p.S260C	FTO_uc010vha.1_5'UTR	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	260	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GAGGATGACTCTCATCTCGAA	0.403			NA											4	36					0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	71007821	71007821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71007821C>A	uc002ezr.2	-	34	5265	c.5137G>T	c.(5137-5139)GGA>TGA	p.G1713*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1714										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGCACTGTCCACACTGAATT	0.488			NA											28	88					2.42023e-17	3.89047e-17	0.003271	1	0
HYDIN	54768	broad.mit.edu	37	16	71098635	71098635	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71098635G>A	uc002ezr.2	-	16	2312	c.2184C>T	c.(2182-2184)CTC>CTT	p.L728L	HYDIN_uc010cfz.1_Silent_p.L473L|HYDIN_uc002ezv.2_Silent_p.L728L|HYDIN_uc010vmc.1_Silent_p.L745L|HYDIN_uc010vmd.1_Silent_p.L755L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	728										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGAATCCTGGGAGGTCATCTT	0.468			NA											6	22					0	0	0.006214	0	0
CALB2	794	broad.mit.edu	37	16	71417284	71417284	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:71417284C>A	uc002faa.3	+	6	484	c.414C>A	c.(412-414)GAC>GAA	p.D138E	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.D138E	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	138	EF-hand 3.						calcium ion binding				0		Ovarian(137;0.125)				TCCTGTCAGACCTGCTGAAGA	0.522			NA											7	29					1.06961e-07	1.30787e-07	0.00308	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77325218	77325218	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:77325218G>T	uc002ffc.3	-	21	3766	c.3347C>A	c.(3346-3348)CCA>CAA	p.P1116Q		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1116	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGGATGGGCTGGGCAAGCCCG	0.512			NA											30	75					8.88839e-20	1.47e-19	0.010818	1	0
MVD	4597	broad.mit.edu	37	16	88723851	88723851	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr16:88723851G>A	uc002flg.1	-	4	403	c.396C>T	c.(394-396)GCC>GCT	p.A132A	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	132					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACCTAGGCAGGCATAGCCCG	0.692			NA											7	10					0	0	0.00308	0	0
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:7579310A>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGCAACTGACCGTGCAAGT	0.532	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)			5	50					0	0	0.001984	0	0
ALOX12B	242	broad.mit.edu	37	17	7984442	7984442	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:7984442G>T	uc002gjy.1	-	3	677	c.416C>A	c.(415-417)GCC>GAC	p.A139D	uc010cnq.1_RNA	NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	139	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GTCCTGCTTGGCTCTGATCTC	0.632			NA								Multiple Myeloma(8;0.094)			16	26					3.5997e-14	5.43113e-14	0.014323	1	0
ZNF18	7566	broad.mit.edu	37	17	11881681	11881681	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:11881681T>A	uc002gng.1	-	9	1848	c.1243A>T	c.(1243-1245)AAG>TAG	p.K415*	ZNF18_uc002gnh.1_Nonsense_Mutation_p.K415*|ZNF18_uc002gni.1_Nonsense_Mutation_p.K414*	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	415	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TAAAAGGTCTTCCCACACTCC	0.517			NA											27	31					0	0	0.008361	0	0
UTP6	55813	broad.mit.edu	37	17	30228589	30228589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:30228589C>A	uc002hgr.2	-	1	141	c.58G>T	c.(58-60)GAG>TAG	p.E20*	UTP6_uc010cst.2_5'UTR|UTP6_uc010wbw.1_Nonsense_Mutation_p.E20*	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	20					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCAATGCGCTCCAGCTGTTCC	0.572			NA											21	53					6.36457e-07	7.58457e-07	0.003954	1	0
RFFL	117584	broad.mit.edu	37	17	33353469	33353469	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:33353469C>A	uc002hin.1	-	2	277	c.104G>T	c.(103-105)AGC>ATC	p.S35I	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.S35I|RFFL_uc010cti.1_Missense_Mutation_p.S41I|RFFL_uc002hip.1_Missense_Mutation_p.S35I|RFFL_uc002hio.1_Missense_Mutation_p.S35I	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	rififylin	35					apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGGAAGGAGCTGTACCCAGG	0.602			NA											9	30					0.000274275	0.000299843	0.004482	1	0
C17orf66	256957	broad.mit.edu	37	17	34191520	34191520	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:34191520T>G	uc002hke.1	-	5	640	c.491A>C	c.(490-492)GAG>GCG	p.E164A	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.E124A|C17orf66_uc010wcm.1_Missense_Mutation_p.E130A	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	164							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATAGAACTGCTCATCCTCTCT	0.473			NA											4	84					0	0	0.001168	0	0
IKZF3	22806	broad.mit.edu	37	17	37922523	37922523	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:37922523C>G	uc002hsu.2	-	8	1112	c.1050G>C	c.(1048-1050)GAG>GAC	p.E350D	IKZF3_uc002htd.2_Missense_Mutation_p.E316D|IKZF3_uc010cwd.2_Missense_Mutation_p.E207D|IKZF3_uc002hsv.2_Missense_Mutation_p.E277D|IKZF3_uc010cwe.2_Missense_Mutation_p.E216D|IKZF3_uc010cwf.2_Missense_Mutation_p.E168D|IKZF3_uc010cwg.2_Missense_Mutation_p.E129D|IKZF3_uc002hsw.2_Missense_Mutation_p.E311D|IKZF3_uc002hsx.2_Missense_Mutation_p.E294D|IKZF3_uc002hsy.2_Missense_Mutation_p.E311D|IKZF3_uc002hsz.2_Missense_Mutation_p.E255D|IKZF3_uc002hta.2_Missense_Mutation_p.E272D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E263D|IKZF3_uc002htc.2_Missense_Mutation_p.E103D|IKZF3_uc010wel.1_Missense_Mutation_p.E103D	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	350					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTTTGACATCTCAGCCCGGG	0.582			NA											6	47					0	0	0.00308	0	0
COIL	8161	broad.mit.edu	37	17	55027858	55027858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:55027858C>A	uc002iuu.2	-	2	776	c.745G>T	c.(745-747)GAG>TAG	p.E249*		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	249	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					GATTCAGACTCCGAGGAGGAA	0.428			NA											18	42					1.01871e-10	1.38695e-10	0.008871	1	0
APOH	350	broad.mit.edu	37	17	64216808	64216808	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:64216808A>T	uc002jfn.3	-	5	527	c.468T>A	c.(466-468)TAT>TAA	p.Y156*		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	156	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CTGATGGCTTATAAACACGAA	0.403	Melanoma(155;624 1882 16869 48804 51309)		NA											22	66					0	0	0.004656	0	0
LAMA1	284217	broad.mit.edu	37	18	6980545	6980545	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:6980545G>T	uc002knm.2	-	42	6076	c.5982C>A	c.(5980-5982)CTC>CTA	p.L1994L	LAMA1_uc010wzj.1_Silent_p.L1470L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1994	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAAGTATCAAGAGTGATTCAT	0.348			NA											7	20					1.06961e-07	1.30787e-07	0.00308	1	0
CHMP1B	57132	broad.mit.edu	37	18	11852027	11852027	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:11852027A>G	uc002kqe.2	+	1	639	c.517A>G	c.(517-519)ACC>GCC	p.T173A	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	173					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						GCAGGGCCAGACCGGCTCCGT	0.637			NA											7	25					0	0	0.006214	0	0
MIB1	57534	broad.mit.edu	37	18	19353597	19353597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:19353597C>T	uc002ktq.2	+	4	544	c.544C>T	c.(544-546)CAG>TAG	p.Q182*	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	182	MIB/HERC2 2.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			AACAGAAATCCAGGACTGGAG	0.378			NA											14	38					0	0	0.004007	0	0
LAMA3	3909	broad.mit.edu	37	18	21508596	21508596	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:21508596G>T	uc002kuq.2	+	64	8389	c.8303G>T	c.(8302-8304)CGA>CTA	p.R2768L	LAMA3_uc002kur.2_Missense_Mutation_p.R2712L|LAMA3_uc002kus.3_Missense_Mutation_p.R1159L|LAMA3_uc002kut.3_Missense_Mutation_p.R1103L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2768	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTTGTGCGATCTGCCTCA	0.418			NA											37	123					2.19962e-31	3.87374e-31	0.00874	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21914211	21914211	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:21914211G>C	uc002kve.2	-	6	652	c.478C>G	c.(478-480)CTG>GTG	p.L160V		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	160					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGTTTTACCAGAGCTGTGAGT	0.328			NA											6	29					0	0	0.001984	0	0
DSC2	1824	broad.mit.edu	37	18	28648025	28648025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:28648025C>A	uc002kwl.3	-	16	3116	c.2662G>T	c.(2662-2664)GAG>TAG	p.E888*	DSC2_uc002kwk.3_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	888	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATTTGGGCTCCAAATTATCC	0.398			NA											12	38					1.3612e-06	1.61467e-06	0.003163	1	0
ASXL3	80816	broad.mit.edu	37	18	31323412	31323412	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:31323412G>C	uc010dmg.1	+	12	3655	c.3600G>C	c.(3598-3600)GTG>GTC	p.V1200V	ASXL3_uc002kxq.2_Silent_p.V907V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1200	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ACTTATCTGTGCATAGTTCTG	0.418			NA											12	25					0	0	0.001855	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249312	43249312	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:43249312G>T	uc010dnj.2	+	17	2399	c.2078G>T	c.(2077-2079)TGG>TTG	p.W693L	SLC14A2_uc002lbe.2_Missense_Mutation_p.W693L	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	693						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TTCAGCAAGTGGGACCTCCCA	0.552			NA											55	139					3.77215e-22	6.42387e-22	0.01441	1	0
ALPK2	115701	broad.mit.edu	37	18	56203726	56203726	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:56203726C>A	uc002lhj.3	-	5	3907	c.3693G>T	c.(3691-3693)GAG>GAT	p.E1231D	ALPK2_uc002lhk.1_Missense_Mutation_p.E562D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1231							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGTTGCCTGCCTCCCAATTTC	0.468			NA											23	78					6.44725e-10	8.50839e-10	0.014323	1	0
CDH7	1005	broad.mit.edu	37	18	63527057	63527057	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr18:63527057C>G	uc002ljz.2	+	10	1933	c.1608C>G	c.(1606-1608)AAC>AAG	p.N536K	CDH7_uc002lka.2_Missense_Mutation_p.N536K|CDH7_uc002lkb.2_Missense_Mutation_p.N536K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	536	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TGAAAGATAACAAAGGTAATG	0.363			NA											3	17					0	0	0.004672	0	0
C19orf26	255057	broad.mit.edu	37	19	1235049	1235049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:1235049C>A	uc002lrm.2	-	5	663	c.388G>T	c.(388-390)GAG>TAG	p.E130*		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	130						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCGCCTCATTGAAGGAG	0.692			NA								HNSCC(14;0.022)			4	9					0.000602214	0.000650089	0.000602	1	0
JSRP1	126306	broad.mit.edu	37	19	2252613	2252613	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:2252613C>G	uc002lvi.1	-	6	746	c.711G>C	c.(709-711)GAG>GAC	p.E237D	JSRP1_uc002lvj.1_Missense_Mutation_p.E237D	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	237	Arg-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGAGGCCTCTCCTTGGGTC	0.687			NA											12	61					0	0	0.013537	0	0
ZFR2	23217	broad.mit.edu	37	19	3822144	3822144	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:3822144T>C	uc002lyw.2	-	9	1438	c.1426A>G	c.(1426-1428)AGT>GGT	p.S476G	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	476						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGTTGAAACTGCACTCGCAC	0.667			NA											7	9					0	0	0.004482	0	0
ACTL9	284382	broad.mit.edu	37	19	8808217	8808217	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:8808217T>A	uc002mkl.2	-	1	956	c.835A>T	c.(835-837)ACT>TCT	p.T279S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	279						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						AGCTTCAGAGTCCGCTTGTAC	0.632			NA											15	46					0	0	0.004007	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842168	8842168	+	Missense_Mutation	SNP	A	A	G	rs61746161	byFrequency	TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:8842168A>G	uc010xkg.1	+	1	778	c.778A>G	c.(778-780)ATG>GTG	p.M260V		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						GTTCATGTACATGGTGCCTTG	0.552			NA											18	48					0	0	0.012319	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990587	15990587	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:15990587C>A	uc002nbs.1	-	10	1286	c.1236G>T	c.(1234-1236)CGG>CGT	p.R412R	CYP4F2_uc010xot.1_Silent_p.R263R	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	412					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGGGGATGACCCGGCCGTCTG	0.632			NA											28	82					6.90743e-12	9.90064e-12	0.003755	1	0
NWD1	284434	broad.mit.edu	37	19	16874726	16874726	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:16874726C>A	uc002neu.3	+	9	2643	c.2221C>A	c.(2221-2223)CGC>AGC	p.R741S	NWD1_uc002net.3_Missense_Mutation_p.R606S|NWD1_uc002nev.3_Missense_Mutation_p.R535S			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	741							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TCACTCGGGCCGCCTGGAGGA	0.612			NA											14	45					7.93312e-07	9.43201e-07	0.00245	1	0
ZNF99	7652	broad.mit.edu	37	19	22939348	22939348	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:22939348C>T	uc010xrh.1	-	7	2823	c.2823G>A	c.(2821-2823)GAG>GAA	p.E941E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTCCAGTAT	0.373			NA											13	20					0	0	0.00499	0	0
ZNF536	9745	broad.mit.edu	37	19	30935800	30935800	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:30935800C>A	uc002nsu.1	+	2	1469	c.1331C>A	c.(1330-1332)GCC>GAC	p.A444D	ZNF536_uc010edd.1_Missense_Mutation_p.A444D	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	444					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)					CCGGACAAAGCCGGCCTGAGC	0.647			NA											15	33					5.01169e-05	5.63406e-05	0.00499	1	0
PEPD	5184	broad.mit.edu	37	19	34003636	34003636	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:34003636G>T	uc002nur.3	-	2	199	c.64C>A	c.(64-66)CTC>ATC	p.L22I	PEPD_uc010xrr.1_Missense_Mutation_p.L22I|PEPD_uc010xrs.1_Missense_Mutation_p.L22I	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	22					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					AAGGCAAAGAGCGCCAGCGGC	0.632			NA											13	33					4.36969e-10	5.78144e-10	0.001855	1	0
KCTD15	79047	broad.mit.edu	37	19	34302445	34302445	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:34302445C>G	uc002nuy.3	+	6	949	c.681C>G	c.(679-681)CTC>CTG	p.L227L	KCTD15_uc002nuv.2_Silent_p.L227L|KCTD15_uc002nuw.3_Silent_p.L227L|KCTD15_uc010xrt.1_Silent_p.L227L|KCTD15_uc002nux.3_Silent_p.L227L	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	227						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					ACTGCCGGCTCAACTCGGTAC	0.697	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)		NA											9	43					0	0	0.006214	0	0
HKR1	284459	broad.mit.edu	37	19	37854120	37854121	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:37854120_37854121GG>TT	uc002ogb.2	+	6	1692_1693	c.1423_1424GG>TT	c.(1423-1425)GGG>TTG	p.G475L	HKR1_uc002ofx.2_Missense_Mutation_p.G191L|HKR1_uc002ofy.2_Missense_Mutation_p.G191L|HKR1_uc002oga.2_Missense_Mutation_p.G457L|HKR1_uc010xto.1_Missense_Mutation_p.G457L|HKR1_uc002ogc.2_Missense_Mutation_p.G456L|HKR1_uc010xtp.1_Missense_Mutation_p.G414L|HKR1_uc002ogd.2_Missense_Mutation_p.G414L	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	475	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTGGAGTGCGGGCAGTGCTTT	0.51			NA											23	62					0	0	0.004672	0	0
HKR1	284459	broad.mit.edu	37	19	37854344	37854344	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:37854344G>A	uc002ogb.2	+	6	1916	c.1647G>A	c.(1645-1647)GGG>GGA	p.G549G	HKR1_uc002ofx.2_Silent_p.G265G|HKR1_uc002ofy.2_Silent_p.G265G|HKR1_uc002oga.2_Silent_p.G531G|HKR1_uc010xto.1_Silent_p.G531G|HKR1_uc002ogc.2_Silent_p.G530G|HKR1_uc010xtp.1_Silent_p.G488G|HKR1_uc002ogd.2_Silent_p.G488G	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	549					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACATTCAGGGGAAAAGCCTT	0.512			NA											8	33					0	0	0.004482	0	0
RYR1	6261	broad.mit.edu	37	19	38948829	38948829	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:38948829C>A	uc002oit.2	+	18	2194	c.2064C>A	c.(2062-2064)ACC>ACA	p.T688T	RYR1_uc002oiu.2_Silent_p.T688T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	688	Cytoplasmic.|B30.2/SPRY 1.				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)	GGGCCCTCACCGAGGGCTACA	0.627			NA											19	66					1.01871e-10	1.38695e-10	0.008871	1	0
DEDD2	162989	broad.mit.edu	37	19	42719285	42719285	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:42719285C>G	uc002osu.1	-	3	516	c.448G>C	c.(448-450)GGC>CGC	p.G150R	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Intron|DEDD2_uc002osx.1_Missense_Mutation_p.Q33H|DEDD2_uc002osy.1_Missense_Mutation_p.G150R	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	150					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				CTGGGCTCACCTGTCTCCCAC	0.542			NA											17	71					0	0	0.00278	0	0
TMEM145	284339	broad.mit.edu	37	19	42824524	42824524	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:42824524G>C	uc002otk.1	+	13	1181	c.1129G>C	c.(1129-1131)GCC>CCC	p.A377P		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	377						integral to membrane					0		Prostate(69;0.00682)				CCCCAAGTGGGCCCGGGAGAA	0.577			NA											25	71					0	0	0.004656	0	0
ZNF233	353355	broad.mit.edu	37	19	44777052	44777052	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:44777052G>A	uc002oyz.1	+	5	366	c.239G>A	c.(238-240)GGA>GAA	p.G80E	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_5'UTR	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				ATCATTCTAGGACACAAGAAT	0.323			NA											6	20					0	0	0.001984	0	0
DMWD	1762	broad.mit.edu	37	19	46289820	46289820	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:46289820G>A	uc002pdj.1	-	3	980	c.934C>T	c.(934-936)CAC>TAC	p.H312Y	DMWD_uc002pdk.1_Missense_Mutation_p.H312Y|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	312	WD 2.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GAGTCGAAGTGGAAGACGCGC	0.662			NA											14	35					0	0	0.003163	0	0
DHX34	9704	broad.mit.edu	37	19	47870342	47870342	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:47870342C>A	uc010xyn.1	+	7	2039	c.1698C>A	c.(1696-1698)GCC>GCA	p.A566A	DHX34_uc010elc.1_Silent_p.A481A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	566						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACCAGGGGGCCCTGGACAGCT	0.642			NA											7	15					4.36969e-10	5.78144e-10	0.001855	1	0
SULT2A1	6822	broad.mit.edu	37	19	48387042	48387042	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:48387042C>A	uc002phr.2	-	2	277	c.137G>T	c.(136-138)GGA>GTA	p.G46V		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	46	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGTTTGTTCCTGGAAAAAG	0.333			NA											9	26					0.00448238	0.0046915	0.004482	1	0
EMP3	2014	broad.mit.edu	37	19	48830119	48830120	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:48830119_48830120GG>TT	uc002piv.2	+	2	272_273	c.18_19GG>TT	c.(16-21)CTGGTG>CTTTTG	p.V7L		NM_001425	NP_001416	P54852	EMP3_HUMAN	epithelial membrane protein 3	7	Helical; (Potential).				cell growth|negative regulation of cell proliferation	integral to membrane					0		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCCTCTTGCTGGTGGTCTCAGC	0.495			NA											53	155					0	0	0.004672	0	0
SPHK2	56848	broad.mit.edu	37	19	49132455	49132455	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:49132455C>T	uc002pjr.2	+	7	1756	c.1390C>T	c.(1390-1392)CCG>TCG	p.P464S	SPHK2_uc010xzt.1_Missense_Mutation_p.P405S|SPHK2_uc002pjs.2_Missense_Mutation_p.P464S|SPHK2_uc002pjt.2_Missense_Mutation_p.P258S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.P428S|SPHK2_uc002pjw.2_Missense_Mutation_p.P526S	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	464					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGGGGATGCTCCGCTGTCCCC	0.592			NA											41	116					0	0	0.01441	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944254	50944254	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:50944254C>G	uc002psf.2	+	8	741	c.690C>G	c.(688-690)GCC>GCG	p.A230A		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	230					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGAAAATCGCCTTCCAGTATG	0.542			NA											6	14					0	0	0.001168	0	0
NLRP12	91662	broad.mit.edu	37	19	54310817	54310817	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54310817C>A	uc002qch.3	-	4	2395	c.2175G>T	c.(2173-2175)CTG>CTT	p.L725L	NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Silent_p.L725L|NLRP12_uc002qcj.3_Silent_p.L726L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L726L	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	725					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)		CCCGGCTGCCCAGGGCATTTC	0.582			NA											17	49					4.14922e-12	5.98044e-12	0.004007	1	0
LILRB5	10990	broad.mit.edu	37	19	54758764	54758764	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54758764G>C	uc002qex.2	-	6	1200	c.1089C>G	c.(1087-1089)CCC>CCG	p.P363P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P354P|LILRB5_uc002qey.2_Silent_p.P363P|LILRB5_uc002qez.2_Silent_p.P263P|LILRB5_uc002qfa.1_Silent_p.P253P|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	363	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547			NA											10	72					0	0	0.010729	0	0
LILRA4	23547	broad.mit.edu	37	19	54848130	54848130	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:54848130G>A	uc002qfj.2	-	6	1294	c.1237C>T	c.(1237-1239)CTG>TTG	p.L413L	LILRA4_uc002qfi.2_Silent_p.L347L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	413	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ACGAGCTCCAGGGGCTCACTG	0.597			NA											24	46					0	0	0.003954	0	0
LILRA2	11027	broad.mit.edu	37	19	55087568	55087568	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:55087568T>A	uc002qgg.3	+	6	1336	c.1247T>A	c.(1246-1248)GTG>GAG	p.V416E	LILRA2_uc010ern.2_Missense_Mutation_p.V416E|LILRA2_uc002qgf.2_Missense_Mutation_p.V416E|LILRA2_uc010yfe.1_Missense_Mutation_p.V416E|LILRA2_uc010yff.1_Missense_Mutation_p.V404E|LILRA2_uc010ero.2_Missense_Mutation_p.V404E|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	416	Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CTGGAGCTCGTGGTCTCAGGT	0.612			NA											24	83					0	0	0.003954	0	0
SYT5	6861	broad.mit.edu	37	19	55685998	55685998	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:55685998G>T	uc002qjm.1	-	7	1907	c.847C>A	c.(847-849)CTG>ATG	p.L283M	SYT5_uc002qjp.2_Missense_Mutation_p.L279M|SYT5_uc002qjn.1_Missense_Mutation_p.L283M|SYT5_uc002qjo.1_Missense_Mutation_p.L282M	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	283	Cytoplasmic (Potential).|C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCTGCAGCAGGTGGACCTTG	0.522			NA											17	48					1.50039e-11	2.10381e-11	0.012319	1	0
ZNF304	57343	broad.mit.edu	37	19	57867768	57867768	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr19:57867768A>G	uc010ygw.1	+	3	919	c.531A>G	c.(529-531)CCA>CCG	p.P177P	ZNF304_uc010etw.2_Silent_p.P224P|ZNF304_uc010etx.2_Silent_p.P135P	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGACTTACCAGATAGCTCTG	0.517			NA											17	44					0	0	0.00333	0	0
PREB	10113	broad.mit.edu	37	2	27354669	27354669	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:27354669T>C	uc002rix.1	-	8	1283	c.1030A>G	c.(1030-1032)ATT>GTT	p.I344V	PREB_uc002riy.1_Missense_Mutation_p.I272V|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.I286V	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	344	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCACCACAATGCCATGGGCC	0.562			NA											45	128					0	0	0.01441	0	0
FOSL2	2355	broad.mit.edu	37	2	28634930	28634930	+	Missense_Mutation	SNP	G	G	T	rs143327177		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:28634930G>T	uc002rma.2	+	4	1405	c.596G>T	c.(595-597)CGA>CTA	p.R199L	FOSL2_uc010ymi.1_Missense_Mutation_p.R160L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	199					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCGCCGATCGCCCCCA	0.642			NA											24	34					6.38683e-12	9.17996e-12	0.008361	1	0
ALK	238	broad.mit.edu	37	2	29430080	29430080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:29430080C>A	uc002rmy.2	-	26	4802	c.3895G>T	c.(3895-3897)GAG>TAG	p.E1299*	ALK_uc010ymo.1_Nonsense_Mutation_p.E231*	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1299	Protein kinase.|Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATGAAGGCCTCTGGGGGCATC	0.522			NA	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				24	43					7.92952e-12	1.12408e-11	0.003954	1	0
LTBP1	4052	broad.mit.edu	37	2	33413709	33413709	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:33413709C>A	uc002ros.2	+	7	1492	c.1492C>A	c.(1492-1494)CAT>AAT	p.H498N	LTBP1_uc002rot.2_Missense_Mutation_p.H172N|LTBP1_uc002rou.2_Missense_Mutation_p.H172N|LTBP1_uc002rov.2_Missense_Mutation_p.H172N|LTBP1_uc010ymz.1_Missense_Mutation_p.H172N|LTBP1_uc010yna.1_Missense_Mutation_p.H172N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	498					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGTCCAGATACATCAGGTTTC	0.458			NA											26	47					5.61819e-17	9.00306e-17	0.005443	1	0
CRIM1	51232	broad.mit.edu	37	2	36623783	36623783	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:36623783C>T	uc002rpd.2	+	2	397	c.358C>T	c.(358-360)CTT>TTT	p.L120F		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	120	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGACCAACTGCTTGGTTTTAA	0.408			NA											25	48					0	0	0.007291	0	0
ABCG8	64241	broad.mit.edu	37	2	44102327	44102327	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:44102327T>C	uc002rtq.2	+	11	1621	c.1531T>C	c.(1531-1533)TAC>CAC	p.Y511H	ABCG8_uc010yoa.1_Missense_Mutation_p.Y510H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	511	ABC transmembrane type-2.|Helical; Name=3; (Potential).				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)				CATCATCATCTACGGGATGCC	0.562			NA											32	66					0	0	0.013726	0	0
LHCGR	3973	broad.mit.edu	37	2	48915419	48915419	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:48915419C>A	uc002rwu.3	-	11	1587	c.1517G>T	c.(1516-1518)AGC>ATC	p.S506I	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	506	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CATGTAATTGCTGACACCGAC	0.443			NA							Familial_Male-Limited_Precocious_Puberty				13	65					4.36969e-10	5.78144e-10	0.001855	1	0
USP34	9736	broad.mit.edu	37	2	61433248	61433248	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:61433248C>A	uc002sbe.2	-	72	9080	c.9058G>T	c.(9058-9060)GCA>TCA	p.A3020S	USP34_uc002sbd.2_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3020					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGGATTAATGCTTGTTTCACA	0.353			NA											14	40					1.37522e-17	2.2245e-17	0.007413	1	0
CTNNA2	1496	broad.mit.edu	37	2	80831229	80831229	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:80831229T>A	uc010ysh.1	+	15	2225	c.2220T>A	c.(2218-2220)GAT>GAA	p.D740E	CTNNA2_uc010yse.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysf.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysg.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysi.1_Missense_Mutation_p.D372E|CTNNA2_uc010ysj.1_Missense_Mutation_p.D69E	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	740					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						ATACATCTGATGTCATTAATG	0.423			NA											15	28					0	0	0.00499	0	0
COX5B	1329	broad.mit.edu	37	2	98263849	98263849	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:98263849A>G	uc002sya.2	+	3	249	c.220A>G	c.(220-222)AGG>GGG	p.R74G		NM_001862	NP_001853	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb precursor	74					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding				0						TTCAGGCACCAGGGAAGACCC	0.373			NA											26	65					0	0	0.00632	0	0
SCTR	6344	broad.mit.edu	37	2	120209622	120209622	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:120209622C>A	uc002tma.2	-	9	1111	c.885G>T	c.(883-885)TGG>TGT	p.W295C	SCTR_uc002tlz.2_Missense_Mutation_p.W117C	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	295	Helical; Name=5; (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	GAATGATCCACCAGATGGATG	0.587			NA											14	26					1.99824e-07	2.4204e-07	0.00499	1	0
SCTR	6344	broad.mit.edu	37	2	120219492	120219492	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:120219492G>A	uc002tma.2	-	7	947	c.721C>T	c.(721-723)CAC>TAC	p.H241Y	SCTR_uc002tlz.2_Missense_Mutation_p.H63Y	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	241	Cytoplasmic (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	AGGAGTGTGTGAAGGTAGAGG	0.532			NA											18	94					0	0	0.006122	0	0
CFC1B	653275	broad.mit.edu	37	2	131356267	131356267	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:131356267G>A	uc002tro.1	-	3	586	c.195C>T	c.(193-195)GCC>GCT	p.A65A		NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	65					gastrulation	extracellular region					0	Colorectal(110;0.1)					CCCAGCCCTCGGCGCTCCCAG	0.632			NA											7	63					0	0	0.00499	0	0
POTEE	445582	broad.mit.edu	37	2	131984486	131984486	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:131984486C>A	uc002tsn.2	+	4	953	c.901C>A	c.(901-903)CTG>ATG	p.L301M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	301							ATP binding				0						TTTAAATGCACTGGATAGATA	0.328			NA											8	59					2.17888e-05	2.47099e-05	0.006214	1	0
CCDC74A	90557	broad.mit.edu	37	2	132290881	132290881	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:132290881A>G	uc002tta.2	+	8	1099	c.1047A>G	c.(1045-1047)GCA>GCG	p.A349A	CCDC74A_uc002ttb.2_Silent_p.A283A	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	349										skin(1)	1						TCCTGCCCGCACTGAAGCAGA	0.637			NA											13	20					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141707960	141707960	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:141707960C>A	uc002tvj.1	-	20	3952	c.2980G>T	c.(2980-2982)GGG>TGG	p.G994W	LRP1B_uc010fnl.1_Missense_Mutation_p.G176W	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	994	Extracellular (Potential).|LDL-receptor class A 6.				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)		CTCCCGTCCCCACAGTCGTCA	0.448	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			14	31					8.28177e-16	1.29497e-15	0.007413	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555636	155555636	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:155555636G>T	uc002tyv.1	+	1	544	c.349G>T	c.(349-351)GTC>TTC	p.V117F	KCNJ3_uc010zce.1_Missense_Mutation_p.V117F	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	117	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CAAAGCCCACGTCGGTAACTA	0.552			NA											15	43					4.7546e-09	6.13344e-09	0.004007	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711758	155711758	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:155711758G>T	uc002tyv.1	+	3	1634	c.1439G>T	c.(1438-1440)GGA>GTA	p.G480V	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	480	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	ATGGCTGGAGGAGCAGCTAGG	0.423			NA											8	15					3.09899e-07	3.72745e-07	0.004482	1	0
LY75	4065	broad.mit.edu	37	2	160690611	160690611	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:160690611T>C	uc002ubc.3	-	27	3854	c.3785A>G	c.(3784-3786)AAG>AGG	p.K1262R	LY75_uc002ubb.3_Missense_Mutation_p.K1262R|LY75_uc010fos.2_Missense_Mutation_p.K1262R	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1262	Extracellular (Potential).|C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ATGCCTATTCTTTGTTATTAT	0.299			NA											14	32					0	0	0.004007	0	0
LRP2	4036	broad.mit.edu	37	2	170062546	170062546	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:170062546C>A	uc002ues.2	-	40	7756	c.7543G>T	c.(7543-7545)GAT>TAT	p.D2515Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2515	LDL-receptor class B 26.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCAGGGATCTAACACAATT	0.423			NA											33	104					3.62531e-18	5.90113e-18	0.004289	1	0
WIPF1	7456	broad.mit.edu	37	2	175436932	175436932	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:175436932G>C	uc002uiy.2	-	6	933	c.601C>G	c.(601-603)CGG>GGG	p.R201G	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201G|WIPF1_uc010fqt.1_Missense_Mutation_p.R201G|WIPF1_uc002ujc.1_Missense_Mutation_p.R201G|WIPF1_uc002uiz.2_Missense_Mutation_p.R201G|WIPF1_uc002ujb.1_Missense_Mutation_p.R201G|WIPF1_uc010zep.1_Missense_Mutation_p.R201G	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGGGACCCCCGGTTGTGCGGA	0.657			NA											36	135					0	0	0.011902	0	0
SSFA2	6744	broad.mit.edu	37	2	182766646	182766646	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:182766646G>C	uc002uoi.2	+	8	1188	c.866G>C	c.(865-867)AGT>ACT	p.S289T	SSFA2_uc002uoh.2_Missense_Mutation_p.S289T|SSFA2_uc002uoj.2_Missense_Mutation_p.S289T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S136T|SSFA2_uc002uol.2_Missense_Mutation_p.S136T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	289						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTAACTCGAAGTAACACTGCA	0.418			NA											16	35					0	0	0.004007	0	0
PARD3B	117583	broad.mit.edu	37	2	205986319	205986319	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:205986319C>A	uc002var.1	+	8	1018	c.811C>A	c.(811-813)CAA>AAA	p.Q271K	PARD3B_uc010fub.1_Missense_Mutation_p.Q271K|PARD3B_uc002vao.1_Missense_Mutation_p.Q271K|PARD3B_uc002vap.1_Missense_Mutation_p.Q271K|PARD3B_uc002vaq.1_Missense_Mutation_p.Q271K	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	271	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCCAGGGCTCAAGATGTCTT	0.483			NA											13	108					0.00074312	0.000795539	0.006122	1	0
INO80D	54891	broad.mit.edu	37	2	206872011	206872011	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:206872011C>G	uc002vaz.3	-	10	2320	c.1915G>C	c.(1915-1917)GAA>CAA	p.E639Q		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						ACTATACCTTCAAAAAAATCA	0.348			NA											9	20					0	0	0.008291	0	0
C2orf80	389073	broad.mit.edu	37	2	209051687	209051687	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:209051687C>T	uc002vcr.2	-	2	196	c.24G>A	c.(22-24)AAG>AAA	p.K8K		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	8										skin(1)	1						TTTTCATTTCCTTCTTTATGA	0.423			NA											14	23					0	0	0.007413	0	0
CPS1	1373	broad.mit.edu	37	2	211481168	211481168	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:211481168C>A	uc002vee.3	+	21	2722	c.2590C>A	c.(2590-2592)CTT>ATT	p.L864I	CPS1_uc010fur.2_Missense_Mutation_p.L870I|CPS1_uc010fus.2_Missense_Mutation_p.L413I|LOC29034_uc002vef.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	864					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAACATGTCCCTTGATGAGAT	0.363			NA											17	60					3.08376e-08	3.85284e-08	0.00333	1	0
VWC2L	402117	broad.mit.edu	37	2	215440422	215440422	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:215440422A>G	uc002vet.2	+	4	677	c.547A>G	c.(547-549)ATA>GTA	p.I183V	VWC2L_uc010zjl.1_Silent_p.R139R	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	183						extracellular region					0						AGGAACGACGATAATTCCAGC	0.463			NA											48	119					0	0	0.01441	0	0
RNF25	64320	broad.mit.edu	37	2	219532829	219532829	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:219532829C>A	uc002vit.2	-	4	348	c.260G>T	c.(259-261)CGA>CTA	p.R87L	RNF25_uc010fvw.2_5'UTR	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	87	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGTCCTCGGGGATTTCG	0.512			NA											119	219					6.08857e-40	1.09467e-39	0.01441	1	0
ESPNL	339768	broad.mit.edu	37	2	239040110	239040110	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr2:239040110T>A	uc002vxq.3	+	9	2865	c.2755T>A	c.(2755-2757)TTC>ATC	p.F919I	ESPNL_uc010fyw.2_Missense_Mutation_p.F615I	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	919										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACCGACGGCTTCGAGGACAT	0.711			NA											8	12					0	0	0.008291	0	0
RSPO4	343637	broad.mit.edu	37	20	947845	947845	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:947845C>A	uc002wej.2	-	3	478	c.381G>T	c.(379-381)TTG>TTT	p.L127F	RSPO4_uc002wek.2_Missense_Mutation_p.L127F	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	127	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						TCTGGTGGGCCAAAGTGCCCG	0.637			NA											23	47					2.89027e-11	3.97701e-11	0.014323	1	0
CPXM1	56265	broad.mit.edu	37	20	2775049	2775049	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:2775049C>G	uc002wgu.2	-	14	2056	c.1992G>C	c.(1990-1992)CTG>CTC	p.L664L	CPXM1_uc010gas.2_Silent_p.L590L	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	664					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						CCCCTGGGGTCAGCAGACGCC	0.587			NA											15	45					0	0	0.006122	0	0
BPIL3	128859	broad.mit.edu	37	20	31625383	31625383	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:31625383C>A	uc010zuc.1	+	8	685	c.685C>A	c.(685-687)CAA>AAA	p.Q229K	BPIL3_uc010zud.1_Missense_Mutation_p.Q168K	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	229						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						GGTGCAGCAGCAAAAGGGCAA	0.607			NA											24	47					3.73148e-12	5.40855e-12	0.007291	1	0
SPAG4	6676	broad.mit.edu	37	20	34203957	34203957	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:34203957C>T	uc002xdb.1	+	1	149	c.32C>T	c.(31-33)TCG>TTG	p.S11L	SPAG4_uc010zvi.1_5'UTR	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	11					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGCTCGGCCTCGTCCTCGCGC	0.677			NA											18	20					0	0	0.012319	0	0
ELMO2	63916	broad.mit.edu	37	20	45003949	45003949	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:45003949T>C	uc002xrt.1	-	13	1201	c.991A>G	c.(991-993)AGC>GGC	p.S331G	ELMO2_uc010zxq.1_Missense_Mutation_p.S63G|ELMO2_uc002xrs.1_Missense_Mutation_p.S78G|ELMO2_uc002xru.1_Missense_Mutation_p.S331G|ELMO2_uc010zxr.1_Missense_Mutation_p.S343G|ELMO2_uc010zxs.1_Missense_Mutation_p.S148G|ELMO2_uc002xrv.1_Missense_Mutation_p.S50G|ELMO2_uc002xrw.2_Missense_Mutation_p.S148G|ELMO2_uc002xrx.1_Missense_Mutation_p.S331G	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	331	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGGGCATTGCTAGGATCAGAC	0.488			NA											20	49					0	0	0.00278	0	0
KCNB1	3745	broad.mit.edu	37	20	47989689	47989689	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:47989689G>T	uc002xur.1	-	2	2572	c.2408C>A	c.(2407-2409)CCC>CAC	p.P803H	KCNB1_uc002xus.1_Missense_Mutation_p.P803H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	803	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGAGGTGGGTAAAGGGGA	0.522			NA											57	130					2.40265e-35	4.30475e-35	0.01441	1	0
MC3R	4159	broad.mit.edu	37	20	54824002	54824002	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:54824002T>A	uc002xxb.2	+	1	215	c.103T>A	c.(103-105)TGT>AGT	p.C35S		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	72	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CAGCGCCTTCTGTGAGCAGGT	0.567			NA											40	83					0	0	0.01441	0	0
HRH3	11255	broad.mit.edu	37	20	60791330	60791330	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:60791330G>T	uc002ycf.2	-	3	1367	c.1070C>A	c.(1069-1071)GCC>GAC	p.A357D	HRH3_uc002ycg.2_Missense_Mutation_p.A277D|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.A357D	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	357	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CAGCGACTTGGCCACTTTCCT	0.637			NA											10	17					3.07112e-06	3.59342e-06	0.010729	1	0
COL20A1	57642	broad.mit.edu	37	20	61950474	61950474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:61950474G>T	uc011aau.1	+	22	2828	c.2728G>T	c.(2728-2730)GAG>TAG	p.E910*	COL20A1_uc011aav.1_Nonsense_Mutation_p.E731*	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	910	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCTACTTCCCGAGACACCCCG	0.657			NA											21	45					3.6726e-16	5.7953e-16	0.003954	1	0
SYNJ1	8867	broad.mit.edu	37	21	34038882	34038882	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:34038882T>G	uc002yqh.2	-	16	1930	c.1930A>C	c.(1930-1932)ACA>CCA	p.T644P	SYNJ1_uc011ads.1_Missense_Mutation_p.T600P|SYNJ1_uc002yqf.2_Missense_Mutation_p.T605P|SYNJ1_uc002yqg.2_Missense_Mutation_p.T600P|SYNJ1_uc002yqi.2_Missense_Mutation_p.T644P	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	605	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TGATTTGTTGTGCTACAAGAA	0.358			NA											13	36					0	0	0.013537	0	0
KCNE1	3753	broad.mit.edu	37	21	35821695	35821695	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:35821695C>T	uc010gmp.2	-	2	668	c.238G>A	c.(238-240)GTC>ATC	p.V80I	KCNE1_uc002ytz.2_Missense_Mutation_p.V80I|KCNE1_uc010gmq.2_Missense_Mutation_p.V80I|KCNE1_uc010gmr.2_Missense_Mutation_p.V80I|KCNE1_uc010gms.2_Missense_Mutation_p.V80I|KCNE1_uc002yua.2_RNA	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related	80	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(2)	2					Indapamide(DB00808)	TCGATGTAGACGTTGAATGGG	0.552			NA											22	33					0	0	0.010504	0	0
BRWD1	54014	broad.mit.edu	37	21	40559292	40559292	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:40559292T>A	uc002yxk.1	-	42	6762	c.6623A>T	c.(6622-6624)CAT>CTT	p.H2208L	BRWD1_uc010goc.1_Missense_Mutation_p.H851L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTGATTATGCATACATGT	0.378	Melanoma(170;988 1986 4794 16843 39731)		NA											16	27					0	0	0.00499	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033144	41033144	+	Missense_Mutation	SNP	G	G	A	rs140140179		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:41033144G>A	uc002yyb.1	+	5	1250	c.658G>A	c.(658-660)GTG>ATG	p.V220M	B3GALT5_uc002yye.2_Missense_Mutation_p.V220M|B3GALT5_uc002yyi.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyj.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyk.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyl.1_Missense_Mutation_p.V220M|B3GALT5_uc002yym.1_Missense_Mutation_p.V220M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	220	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				CACCGGCTACGTGTTTTCTGG	0.522			NA											26	57					0	0	0.009535	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951949	46951949	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:46951949G>T	uc002zhl.1	-	3	422	c.303C>A	c.(301-303)CTC>CTA	p.L101L	SLC19A1_uc010gpy.1_Silent_p.L101L|SLC19A1_uc011aft.1_Silent_p.L61L|SLC19A1_uc002zhm.1_Silent_p.L101L|SLC19A1_uc010gpz.1_5'UTR	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	101	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACACGAAGCTGAGCCCCTGCA	0.662			NA											6	42					0.00116845	0.00124057	0.001168	1	0
S100B	6285	broad.mit.edu	37	21	48022263	48022263	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr21:48022263C>A	uc002zju.1	-	2	177	c.66G>T	c.(64-66)GAG>GAT	p.E22D	S100B_uc002zjv.1_Missense_Mutation_p.E22D	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	22	EF-hand 1.|1; low affinity.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding				0	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		GCTTGTCTCCCTCCCTTCCAG	0.478			NA											10	31					0.00621372	0.00642541	0.006214	1	0
CECR2	27443	broad.mit.edu	37	22	18028016	18028016	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:18028016G>T	uc010gqw.1	+	16	3099	c.2973G>T	c.(2971-2973)GCG>GCT	p.A991A	CECR2_uc010gqv.1_Silent_p.A849A|CECR2_uc002zml.2_Silent_p.A850A|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1033					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CCGAATCTGCGGACAACTGTA	0.612			NA											6	9					8.12818e-05	9.0391e-05	0.001984	1	0
PPIL2	23759	broad.mit.edu	37	22	22036798	22036798	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:22036798G>A	uc010gtj.1	+	8	576	c.460G>A	c.(460-462)GAC>AAC	p.D154N	PPIL2_uc002zvh.3_Missense_Mutation_p.D154N|PPIL2_uc002zvi.3_Missense_Mutation_p.D154N|PPIL2_uc002zvg.3_Missense_Mutation_p.D154N|PPIL2_uc011aij.1_Missense_Mutation_p.D133N	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	154					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					CTCCCGGCAGGACATCATCAC	0.612			NA											6	36					0	0	0.001984	0	0
CBX7	23492	broad.mit.edu	37	22	39530024	39530024	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:39530024G>A	uc003axb.2	-	6	717	c.628C>T	c.(628-630)CCC>TCC	p.P210S	CBX7_uc003axc.2_Missense_Mutation_p.P117S	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	210					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					GGTGTCCAGGGAGGGGGCCCC	0.657	GBM(46;845 904 3560 9866 23971)		NA											5	98					0	0	0.001168	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692609	44692609	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr22:44692609T>A	uc003bet.2	-	3	357	c.224A>T	c.(223-225)GAG>GTG	p.E75V		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	75	Extracellular (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCTGGAACTCCGTCTCGTT	0.592			NA											34	138					0	0	0.004289	0	0
IL17RE	132014	broad.mit.edu	37	3	9948474	9948474	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:9948474C>T	uc003btu.2	+	6	568	c.451C>T	c.(451-453)CGC>TGC	p.R151C	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.R151C|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.R151C|IL17RE_uc003btx.2_Missense_Mutation_p.R35C|IL17RE_uc010hcq.2_Missense_Mutation_p.R151C|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	151	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAAGGGACTTCGCTCTAAAAG	0.532			NA											6	129					0	0	0.001168	0	0
MKRN2	23609	broad.mit.edu	37	3	12613724	12613724	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:12613724G>A	uc003bxd.2	+	4	550	c.494G>A	c.(493-495)AGC>AAC	p.S165N	MKRN2_uc003bxe.2_Missense_Mutation_p.S163N|MKRN2_uc011aus.1_Missense_Mutation_p.S122N	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	165	C3H1-type 3.					intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						AGCTCCTACAGCAACGAGCAG	0.627			NA											18	35					0	0	0.008871	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950774	12950774	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:12950774C>A	uc003bxt.2	-	11	2628	c.2619G>T	c.(2617-2619)GAG>GAT	p.E873D	IQSEC1_uc003bxu.3_Missense_Mutation_p.E751D|IQSEC1_uc011auw.1_Missense_Mutation_p.E859D	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	873	Potential.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GGTACTCACACTCTATCCTGT	0.547			NA											25	90					1.77063e-15	2.73547e-15	0.005443	1	0
NEK10	152110	broad.mit.edu	37	3	27346303	27346303	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:27346303G>A	uc003cdt.1	-	13	1237	c.963C>T	c.(961-963)GAC>GAT	p.D321D		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	321							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TGGTCTCAGGGTCCTCACAAA	0.507			NA											11	30					0	0	0.00245	0	0
ZNF445	353274	broad.mit.edu	37	3	44488733	44488733	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:44488733C>A	uc003cnf.2	-	8	2778	c.2430G>T	c.(2428-2430)AGG>AGT	p.R810S	ZNF445_uc011azv.1_Missense_Mutation_p.R798S|ZNF445_uc011azw.1_Missense_Mutation_p.R810S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	810	C2H2-type 9.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGAGTGAATCCTCTGATGTC	0.443			NA											19	36					2.37509e-13	3.55231e-13	0.010504	1	0
ZNF167	55888	broad.mit.edu	37	3	44598651	44598651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:44598651C>T	uc010hin.2	+	2	500	c.112C>T	c.(112-114)CAG>TAG	p.Q38*	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Nonsense_Mutation_p.Q38*|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q38*|ZNF167_uc003cnk.2_Nonsense_Mutation_p.Q38*	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GACCTGGGGGCAGGGCAGCAG	0.572	Esophageal Squamous(121;907 1626 38429 48584 52774)		NA											14	33					0	0	0.003163	0	0
DUSP7	1849	broad.mit.edu	37	3	52090174	52090174	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:52090174G>A	uc003dct.2	-	1	288	c.209C>T	c.(208-210)GCG>GTG	p.A70V	DUSP7_uc010hma.2_Missense_Mutation_p.A70V	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	70	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCAAGGACGCGCCGCCGCG	0.547			NA											8	8					0	0	0.004482	0	0
TMF1	7110	broad.mit.edu	37	3	69077407	69077407	+	Silent	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:69077407T>A	uc003dnn.2	-	12	2881	c.2634A>T	c.(2632-2634)GTA>GTT	p.V878V	TMF1_uc011bfx.1_Silent_p.V881V	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	878	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGTGTTCTTACATATTCAT	0.353			NA											6	26					0	0	0.001984	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432857	73432857	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:73432857G>C	uc003dpl.1	-	10	2956	c.2860C>G	c.(2860-2862)CGC>GGC	p.R954G	PDZRN3_uc011bgh.1_Missense_Mutation_p.R611G|PDZRN3_uc010hoe.1_Missense_Mutation_p.R652G|PDZRN3_uc011bgf.1_Missense_Mutation_p.R671G|PDZRN3_uc011bgg.1_Missense_Mutation_p.R674G	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	954							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGCCGCTGCGCTCTTCCCGG	0.657			NA											14	40					0	0	0.00245	0	0
CNTN3	5067	broad.mit.edu	37	3	74548901	74548901	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:74548901C>G	uc003dpm.1	-	2	171	c.91G>C	c.(91-93)GAA>CAA	p.E31Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	31	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTGCTGGGTTCTTTGATAAAT	0.378			NA											17	52					0	0	0.003954	0	0
HTR1F	3355	broad.mit.edu	37	3	88040885	88040885	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:88040885C>T	uc003dqr.2	+	2	1144	c.986C>T	c.(985-987)TCC>TTC	p.S329F		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	329	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAAGAAATGTCCAATTTTTTG	0.323			NA											3	25					0	0	0.000602	0	0
EPHA3	2042	broad.mit.edu	37	3	89390222	89390222	+	Splice_Site	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:89390222G>A	uc003dqy.2	+	4	1195	c.970_splice	c.e4+1	p.R324_splice	EPHA3_uc003dqx.1_Splice_Site_p.R324_splice|EPHA3_uc010hon.1_Splice_Site	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTTGTACCCGTGAGTAGTTT	0.443			NA								TSP Lung(6;0.00050)			21	83					0	0	0.00278	0	0
PROS1	5627	broad.mit.edu	37	3	93593219	93593219	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:93593219G>T	uc003drb.3	-	15	2242	c.1901C>A	c.(1900-1902)GCC>GAC	p.A634D	PROS1_uc010hoo.2_Missense_Mutation_p.A503D|PROS1_uc003dqz.3_Missense_Mutation_p.A503D	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	634	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATTATAAAAGGCATTCACTGG	0.358			NA											6	16					0.00307968	0.00322991	0.00308	1	0
ZPLD1	131368	broad.mit.edu	37	3	102187852	102187852	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:102187852G>C	uc003dvs.1	+	15	1688	c.806G>C	c.(805-807)AGC>ACC	p.S269T	ZPLD1_uc003dvt.1_Missense_Mutation_p.S285T|ZPLD1_uc011bhg.1_Missense_Mutation_p.S269T	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	269	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						AATGGCCGAAGCCAGCGGGGC	0.478			NA											17	27					0	0	0.008871	0	0
MYH15	22989	broad.mit.edu	37	3	108179195	108179195	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:108179195C>T	uc003dxa.1	-	18	2001	c.1944G>A	c.(1942-1944)AAG>AAA	p.K648K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	648	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCTTTCGTTTCTTCTCCCCAA	0.269			NA											6	10					0	0	0.001168	0	0
MORC1	27136	broad.mit.edu	37	3	108818286	108818286	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:108818286A>C	uc003dxl.2	-	6	429	c.342T>G	c.(340-342)TTT>TTG	p.F114L	MORC1_uc011bhn.1_Missense_Mutation_p.F114L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	114					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TAAAAAGAATAAAGTCTTTTC	0.343			NA											3	11					0	0	0.009096	0	0
BFSP2	8419	broad.mit.edu	37	3	133119269	133119269	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:133119269C>G	uc003epn.1	+	1	480	c.342C>G	c.(340-342)TGC>TGG	p.C114W		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	114	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						TAGGGGGCTGCCTGGTGGAAT	0.612			NA											13	62					0	0	0.00245	0	0
STAG1	10274	broad.mit.edu	37	3	136117607	136117607	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:136117607T>C	uc003era.1	-	22	2553	c.2261A>G	c.(2260-2262)GAT>GGT	p.D754G	STAG1_uc003erb.1_Missense_Mutation_p.D754G|STAG1_uc003erc.1_Missense_Mutation_p.D528G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	754					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AGGAGAGCCATCAGTAATTTT	0.294			NA											16	18					0	0	0.012319	0	0
PAQR9	344838	broad.mit.edu	37	3	142681067	142681067	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:142681067G>T	uc003evg.2	-	1	1112	c.1112C>A	c.(1111-1113)TCC>TAC	p.S371Y	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	371	Extracellular (Potential).					integral to membrane	receptor activity				0						GCAGAATTCGGAGCTGTTTAG	0.532			NA											25	84					2.65835e-16	4.20769e-16	0.007291	1	0
SI	6476	broad.mit.edu	37	3	164777757	164777757	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:164777757C>A	uc003fei.2	-	10	1141	c.1079G>T	c.(1078-1080)TGG>TTG	p.W360L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	360	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTATAATTCCAGCGACTTAG	0.373			NA								HNSCC(35;0.089)			36	99					2.52637e-11	3.53281e-11	0.005524	1	0
WDR49	151790	broad.mit.edu	37	3	167322098	167322098	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:167322098T>A	uc003fev.1	-	2	400	c.94A>T	c.(94-96)AAT>TAT	p.N32Y	WDR49_uc011bpd.1_Missense_Mutation_p.N85Y|WDR49_uc003few.1_Missense_Mutation_p.N373Y	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	32	WD 1.									large_intestine(1)|ovary(1)|skin(1)	3						CCAATTAAATTGAGCCGAGAG	0.388			NA											8	27					0	0	0.006214	0	0
ATP11B	23200	broad.mit.edu	37	3	182591803	182591804	+	Splice_Site	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:182591803_182591804GG>TT	uc003flb.2	+	19	2509	c.2252_splice	c.e19+1	p.R751_splice	ATP11B_uc003flc.2_Splice_Site_p.R335_splice|ATP11B_uc011bqm.1_Splice_Site_p.R55_splice|ATP11B_uc010hxf.1_Splice_Site	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B						aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner 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	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTTGCCAGAAGGTAAGAATATA	0.257			NA											6	13					0	0	0.004672	0	0
ZNF595	152687	broad.mit.edu	37	4	86116	86116	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:86116C>T	uc003fzv.1	+	6	878	c.722C>T	c.(721-723)ACA>ATA	p.T241I	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.T9I|ZNF595_uc011but.1_Missense_Mutation_p.T9I	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	241					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGACGGTCCACAGTTCTGAAC	0.413			NA											11	26					0	0	0.010729	0	0
GAK	2580	broad.mit.edu	37	4	891884	891884	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:891884C>A	uc003gbm.3	-	6	787	c.588G>T	c.(586-588)ACG>ACT	p.T196T	GAK_uc003gbn.3_Silent_p.T117T|GAK_uc010ibk.1_Silent_p.T90T|GAK_uc003gbl.3_Silent_p.T60T	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	196	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCGAGATGGTCGTGGCACTGC	0.567			NA											10	21					6.40141e-05	7.14963e-05	0.010729	1	0
POLN	353497	broad.mit.edu	37	4	2209923	2209923	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:2209923T>C	uc003ger.2	-	3	505	c.505A>G	c.(505-507)AGT>GGT	p.S169G	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S169G	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	169					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATTTGTTTACTTGTTTTCTCT	0.303			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					4	15					0	0	0.009096	0	0
BOD1L	259282	broad.mit.edu	37	4	13603505	13603505	+	Missense_Mutation	SNP	T	T	C	rs145172802		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:13603505T>C	uc003gmz.1	-	10	5136	c.5019A>G	c.(5017-5019)ATA>ATG	p.I1673M	BOD1L_uc010idr.1_Missense_Mutation_p.I1010M	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1673							DNA binding			ovary(5)|breast(1)	6						TTCCTTCAACTATTTCTGAGT	0.393			NA											60	109					0	0	0.01441	0	0
OCIAD2	132299	broad.mit.edu	37	4	48899870	48899870	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:48899870C>T	uc003gyt.2	-	4	371	c.168G>A	c.(166-168)CTG>CTA	p.L56L	OCIAD2_uc003gyu.2_Silent_p.L56L	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	56	OCIA.					endosome					0						GAGAAAAAGGCAGAGCTGTAA	0.353			NA											7	31					0	0	0.006214	0	0
EPHA5	2044	broad.mit.edu	37	4	66467428	66467428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:66467428C>A	uc003hcy.2	-	3	1034	c.841G>T	c.(841-843)GAG>TAG	p.E281*	EPHA5_uc003hcx.2_Nonsense_Mutation_p.E212*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E281*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E281*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E281*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E281*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	281	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ACCAGCCACTCCCCTTCGGCG	0.532			NA								TSP Lung(17;0.13)			21	65					7.88262e-20	1.30786e-19	0.00333	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699078	68699078	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:68699078A>T	uc003hdq.2	-	7	601	c.536T>A	c.(535-537)CTA>CAA	p.L179Q	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.L62Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	179	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CAATGTTATTAGGTCTGGACC	0.488			NA											68	121					0	0	0.01441	0	0
C4orf35	85438	broad.mit.edu	37	4	71201476	71201476	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:71201476C>A	uc003hff.2	+	1	806	c.720C>A	c.(718-720)ACC>ACA	p.T240T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	240						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AGAAAATAACCGAAATTGACC	0.418			NA											7	37					5.18039e-06	6.03405e-06	0.00308	1	0
SEC31A	22872	broad.mit.edu	37	4	83748591	83748591	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:83748591G>T	uc003hnf.2	-	24	3386	c.3222C>A	c.(3220-3222)GGC>GGA	p.G1074G	SEC31A_uc003hnd.2_Silent_p.G243G|SEC31A_uc003hne.2_Silent_p.G823G|SEC31A_uc011ccl.1_Silent_p.G1020G|SEC31A_uc003hnl.2_Silent_p.G921G|SEC31A_uc003hng.2_Silent_p.G1059G|SEC31A_uc003hnh.2_Silent_p.G1074G|SEC31A_uc003hni.2_Silent_p.G960G|SEC31A_uc003hnj.2_Silent_p.G1035G|SEC31A_uc011ccm.1_Silent_p.G1054G|SEC31A_uc011ccn.1_Silent_p.G1059G|SEC31A_uc003hnk.2_Silent_p.G1035G|SEC31A_uc003hnm.2_Silent_p.G1074G	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1074	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				ATGGTGGCATGCCTGTTTGAC	0.502			NA											39	84					5.71845e-15	8.67859e-15	0.005524	1	0
Unknown	0	broad.mit.edu	37	4	88814021	88814021	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:88814021T>A	uc010iko.1	+	3	854	c.854T>A	c.(853-855)CTT>CAT	p.L285H						SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;												NA						CCCTTTGACCTTTTTGAGAAC	0.443			NA											29	75					0	0	0.010818	0	0
GRID2	2895	broad.mit.edu	37	4	94006431	94006431	+	Splice_Site	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:94006431G>A	uc011cdt.1	+	3	787	c.529_splice	c.e3+1	p.D177_splice	GRID2_uc010ikx.2_Splice_Site_p.D177_splice|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_Splice_Site	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGTGAATACGGTAAGTGTTTA	0.343			NA											17	55					0	0	0.00499	0	0
PCDH10	57575	broad.mit.edu	37	4	134072410	134072410	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:134072410C>A	uc003iha.2	+	1	1941	c.1115C>A	c.(1114-1116)GCG>GAG	p.A372E	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A372E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	372	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGGGCGCGGCGCCCGGCACT	0.622			NA											33	46					4.31634e-10	5.78144e-10	0.012213	1	0
FSTL5	56884	broad.mit.edu	37	4	162380377	162380377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:162380377G>T	uc003iqh.2	-	14	2139	c.1703C>A	c.(1702-1704)TCA>TAA	p.S568*	FSTL5_uc003iqi.2_Nonsense_Mutation_p.S567*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.S558*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	568						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTGTTGGTGATGTCTTCTC	0.373			NA											18	34					1.36565e-18	2.23706e-18	0.00278	1	0
DDX60L	91351	broad.mit.edu	37	4	169341505	169341505	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr4:169341505A>T	uc003irq.3	-	18	2642	c.2421T>A	c.(2419-2421)ACT>ACA	p.T807T	DDX60L_uc003irr.1_Silent_p.T807T|DDX60L_uc003irs.1_Silent_p.T534T	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	807	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GATTCTCAACAGTTGCAGCCA	0.403			NA											5	14					0	0	0.000602	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146296	5146296	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:5146296C>A	uc003jdl.2	+	3	367	c.229C>A	c.(229-231)CAT>AAT	p.H77N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.H77N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H77N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	77					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TTACGTGTCCCATGAAATCAT	0.532			NA											18	77					2.94398e-08	3.70511e-08	0.007413	1	0
ADCY2	108	broad.mit.edu	37	5	7766919	7766919	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:7766919G>T	uc003jdz.1	+	17	2281	c.2214G>T	c.(2212-2214)CCG>CCT	p.P738P	ADCY2_uc011cmo.1_Silent_p.P558P	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	738	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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TTTTCCTCCCGGTAAGAACAT	0.423			NA											43	175					2.01807e-28	3.51799e-28	0.01441	1	0
SEMA5A	9037	broad.mit.edu	37	5	9052006	9052006	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:9052006A>G	uc003jek.2	-	20	3536	c.2824T>C	c.(2824-2826)TTT>CTT	p.F942L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	942	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTAGAGTCAAACACACACGGC	0.507			NA											23	65					0	0	0.00333	0	0
FBXL7	23194	broad.mit.edu	37	5	15928183	15928183	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:15928183C>A	uc003jfn.1	+	3	793	c.312C>A	c.(310-312)GCC>GCA	p.A104A		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	104					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCCGGCTCGCCTCCAGACCCC	0.687			NA											7	28					0.00198382	0.00209335	0.001984	1	0
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:23526445C>A	uc003jgo.2	+	11	1430	c.1248C>A	c.(1246-1248)TTC>TTA	p.F416L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	416					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						CTCAGAACTTCCCAGGACCAT	0.488			NA								HNSCC(3;0.000094)			23	84					2.89027e-11	3.97701e-11	0.014323	1	0
CDH10	1008	broad.mit.edu	37	5	24491722	24491722	+	Silent	SNP	G	G	T	rs141786276		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:24491722G>T	uc003jgr.1	-	11	2171	c.1839C>A	c.(1837-1839)GCC>GCA	p.A613A	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	613	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)		TGGCGATCAAGGCCCCAGTGC	0.498			NA								HNSCC(23;0.051)			20	100					7.41877e-09	9.45207e-09	0.012319	1	0
NPR3	4883	broad.mit.edu	37	5	32739072	32739072	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:32739072T>C	uc003jhv.2	+	3	1213	c.995T>C	c.(994-996)TTT>TCT	p.F332S	NPR3_uc010iuo.2_Missense_Mutation_p.F116S|NPR3_uc011cnz.1_Missense_Mutation_p.F116S|NPR3_uc003jhu.2_Missense_Mutation_p.F332S	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	332	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AAACCTGAGTTTGAGAAGTTT	0.453			NA											20	68					0	0	0.00278	0	0
HCN1	348980	broad.mit.edu	37	5	45396684	45396684	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:45396684G>A	uc003jok.2	-	4	1165	c.1140C>T	c.(1138-1140)ATC>ATT	p.I380I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	380	Helical; Name=Segment S6; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TGGCCCCGACGATCATGCTCA	0.517			NA											15	63					0	0	0.007413	0	0
DHX29	54505	broad.mit.edu	37	5	54581634	54581635	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:54581634_54581635CC>AA	uc003jpx.2	-	9	1241_1242	c.1121_1122GG>TT	c.(1120-1122)TGG>TTT	p.W374F	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	374							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATTTTCCAGTCCAACTTCGAGC	0.347			NA											5	22					0	0	0.004672	0	0
GPR98	84059	broad.mit.edu	37	5	89979496	89979496	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:89979496A>G	uc003kju.2	+	28	5854	c.5758A>G	c.(5758-5760)ATC>GTC	p.I1920V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1920	Calx-beta 13.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTGGCAACATCACATTTGA	0.468			NA											9	25					0	0	0.001855	0	0
ALDH7A1	501	broad.mit.edu	37	5	125885926	125885926	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:125885926G>C	uc003ktx.2	-	15	1569	c.1377C>G	c.(1375-1377)ATC>ATG	p.I459M	ALDH7A1_uc003ktv.2_Missense_Mutation_p.I80M|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I422M	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	459					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CTTTGGTAAAGATGCTACTTG	0.358			NA											9	27					0	0	0.013537	0	0
FBN2	2201	broad.mit.edu	37	5	127638739	127638739	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:127638739C>G	uc003kuu.2	-	46	6282	c.5843G>C	c.(5842-5844)TGT>TCT	p.C1948S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1948	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTGTTTTTACAAGTTCCATT	0.363			NA											26	63					0	0	0.013726	0	0
DDX46	9879	broad.mit.edu	37	5	134143536	134143536	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:134143536G>A	uc003kzw.2	+	16	2221	c.2053G>A	c.(2053-2055)GTG>ATG	p.V685M	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	685	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTCTAGATGTGAAACATCT	0.428	Colon(13;391 453 4901 21675 24897)		NA											11	33					0	0	0.013537	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166363	140166363	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140166363G>T	uc003lhb.2	+	1	488	c.488G>T	c.(487-489)GGT>GTT	p.G163V	PCDHA1_uc003lha.2_Missense_Mutation_p.G163V|PCDHA1_uc003lgz.2_Missense_Mutation_p.G163V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	163	Cadherin 2.|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)			GCAGACATTGGTGCTAACGCT	0.443			NA											22	46					9.57634e-11	1.31071e-10	0.00333	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166396	140166396	+	Missense_Mutation	SNP	C	C	A	rs141972872		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140166396C>A	uc003lhb.2	+	1	521	c.521C>A	c.(520-522)CCG>CAG	p.P174Q	PCDHA1_uc003lha.2_Missense_Mutation_p.P174Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.P174Q	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	174	Cadherin 2.|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)			ACGCTCAGCCCGAGTGATTAT	0.413			NA											16	34					1.15088e-07	1.4006e-07	0.004007	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250092	140250092	+	Silent	SNP	A	A	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140250092A>C	uc003lia.2	+	1	2262	c.1404A>C	c.(1402-1404)CCA>CCC	p.P468P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.P468P	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	468	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCACCAGGCTGCC	0.672			NA											51	134					0	0	0.01441	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481843	140481843	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140481843G>T	uc003lio.2	+	1	1610	c.1610G>T	c.(1609-1611)GGC>GTC	p.G537V	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	537	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGACCGTGGCTCCCCGGCT	0.677			NA											28	52					1.39806e-14	2.11553e-14	0.008361	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531177	140531177	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140531177C>A	uc003lir.2	+	1	1339	c.1339C>A	c.(1339-1341)CCC>ACC	p.P447T	PCDHB6_uc011dah.1_Missense_Mutation_p.P311T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	447	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGTCCCCGCCTTCAC	0.572			NA											37	109					2.61675e-31	4.59267e-31	0.013114	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603627	140603627	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:140603627G>A	uc003ljb.2	+	1	550	c.550G>A	c.(550-552)GAC>AAC	p.D184N	PCDHB14_uc011dal.1_Missense_Mutation_p.D31N	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	184	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAATTCCCGACAGTAGTGA	0.418	Ovarian(141;50 1831 27899 33809 37648)		NA											23	43					0	0	0.00333	0	0
TCERG1	10915	broad.mit.edu	37	5	145843189	145843190	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:145843189_145843190CT>TG	uc003lob.2	+	5	1008_1009	c.968_969CT>TG	c.(967-969)GCT>GTG	p.A323V	TCERG1_uc003loc.2_Missense_Mutation_p.A323V|TCERG1_uc011dbt.1_Missense_Mutation_p.A323V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	323	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACTCCTGCTCCTACAGCCA	0.49			NA											10	134					0	0	0.004672	0	0
TCERG1	10915	broad.mit.edu	37	5	145843192	145843192	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:145843192C>T	uc003lob.2	+	5	1011	c.971C>T	c.(970-972)CCT>CTT	p.P324L	TCERG1_uc003loc.2_Missense_Mutation_p.P324L|TCERG1_uc011dbt.1_Missense_Mutation_p.P324L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	324	Thr-rich.			P -> R (in Ref. 1; AAB80727).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCCTGCTCCTACAGCCACA	0.493			NA											10	133					0	0	0.011902	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388422	148388422	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:148388422G>C	uc003lpu.2	-	15	3622	c.3470C>G	c.(3469-3471)ACA>AGA	p.T1157R	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T801R|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T704R|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1150R	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1157							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTGACTGTGCTGAGCCT	0.423			NA											32	93					0	0	0.00623	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691761	148691761	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:148691761G>A	uc003lqh.2	+	9	1145	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L	AFAP1L1_uc003lqg.3_Silent_p.L338L|AFAP1L1_uc010jgy.2_Silent_p.L338L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	338							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGACCTGGACAAGGTAT	0.587			NA											8	94					0	0	0.006214	0	0
TNIP1	10318	broad.mit.edu	37	5	150429495	150429495	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:150429495C>G	uc003ltf.2	-	8	1325	c.736G>C	c.(736-738)GAG>CAG	p.E246Q	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E246Q|TNIP1_uc010jhn.2_Missense_Mutation_p.E246Q|TNIP1_uc011dco.1_Missense_Mutation_p.E246Q|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E246Q|TNIP1_uc003ltg.2_Missense_Mutation_p.E193Q|TNIP1_uc003ltj.2_Missense_Mutation_p.E246Q|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhp.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhr.1_Missense_Mutation_p.E246Q|TNIP1_uc003ltk.2_Missense_Mutation_p.E246Q	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	246	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTGAGCTCCAAATTTTCC	0.512			NA											5	310					0	0	0.001168	0	0
FAM71B	153745	broad.mit.edu	37	5	156590064	156590064	+	Missense_Mutation	SNP	G	G	C	rs150872087		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:156590064G>C	uc003lwn.2	-	2	1312	c.1212C>G	c.(1210-1212)AGC>AGG	p.S404R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	404						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAGCCTTCGCTTTGCAAGG	0.507			NA											7	42					0	0	0.001984	0	0
EBF1	1879	broad.mit.edu	37	5	158523361	158523361	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:158523361G>C	uc010jip.2	-	3	647	c.345C>G	c.(343-345)CTC>CTG	p.L115L	EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Silent_p.L115L|EBF1_uc003lxl.3_Silent_p.L115L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	115					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTGCTGTAGAGAAGCTGAA	0.592			NA	T	HMGA2	lipoma								3	22					0	0	0.001168	0	0
DOCK2	1794	broad.mit.edu	37	5	169468121	169468121	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:169468121C>A	uc003maf.2	+	37	3808	c.3728C>A	c.(3727-3729)ACG>AAG	p.T1243K	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T735K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCCTACACGCTCCTTCTC	0.502			NA											12	42					0.000151284	0.000166801	0.001855	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178699960	178699960	+	Silent	SNP	G	G	T	rs144732073		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:178699960G>T	uc003mjw.2	-	3	640	c.640C>A	c.(640-642)CGG>AGG	p.R214R	ADAMTS2_uc011dgm.1_Silent_p.R214R	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	214					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGGTGGCCGGCGATACACC	0.662			NA											21	52					4.54149e-19	7.46308e-19	0.014323	1	0
C6orf195	154386	broad.mit.edu	37	6	2623839	2623839	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:2623839G>T	uc003mtw.2	-	3	1203	c.218C>A	c.(217-219)CCT>CAT	p.P73H		NM_152554	NP_689767	Q96MT4	CF195_HUMAN	hypothetical protein LOC154386	73											0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGATGGGGCAGGAACTGAGGG	0.622			NA											14	75					1.52009e-12	2.21573e-12	0.003163	1	0
RBM24	221662	broad.mit.edu	37	6	17292285	17292285	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:17292285G>T	uc003nbz.3	+	4	650	c.646G>T	c.(646-648)GCT>TCT	p.A216S	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A158S|RBM24_uc003nca.2_Missense_Mutation_p.A171S|RBM24_uc011diy.1_Missense_Mutation_p.Q129H|RBM24_uc011diz.1_Missense_Mutation_p.Q114H	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	216	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			cgctgcagcagctgctgccgc	0.433			NA											14	32					1.52009e-12	2.21573e-12	0.003163	1	0
SLC17A1	6568	broad.mit.edu	37	6	25826688	25826688	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:25826688C>A	uc003nfh.3	-	3	323	c.207_splice	c.e3+1	p.K69_splice	SLC17A1_uc011djy.1_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.K67_splice|SLC17A1_uc010jqc.1_Splice_Site_p.K67_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),						sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						TATTGATGTACCTTTATATTA	0.388			NA											14	128					4.36969e-10	5.78144e-10	0.001855	1	0
BTN3A1	11119	broad.mit.edu	37	6	26408110	26408110	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:26408110G>T	uc003nhv.2	+	4	1013	c.645G>T	c.(643-645)GGG>GGT	p.G215G	BTN3A1_uc011dkj.1_Silent_p.G215G|BTN3A1_uc011dkk.1_Silent_p.G163G|BTN3A1_uc010jqj.2_Silent_p.G215G	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	215	Ig-like V-type 2.|Extracellular (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GCAGCTCTGGGGAGGGTGTAT	0.552			NA											49	152					7.34454e-26	1.27602e-25	0.01441	1	0
TRIM27	5987	broad.mit.edu	37	6	28887798	28887798	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:28887798C>A	uc003nlr.2	-	3	1097	c.738G>T	c.(736-738)GAG>GAT	p.E246D	TRIM27_uc003nls.2_Missense_Mutation_p.E246D|TRIM27_uc003nlt.1_Missense_Mutation_p.E246D	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	246					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						CCTGCAGGAGCTCCCTGGTGG	0.547			NA	T	RET	papillary thyroid								21	70					1.28384e-07	1.55873e-07	0.012319	1	0
DDR1	780	broad.mit.edu	37	6	30866676	30866676	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:30866676G>T	uc003nrr.2	+	18	2722	c.2463G>T	c.(2461-2463)ACG>ACT	p.T821T	DDR1_uc010jse.2_Silent_p.T784T|DDR1_uc003nrq.2_Silent_p.T784T|DDR1_uc003nrs.2_Silent_p.T821T|DDR1_uc003nrt.2_Silent_p.T784T|DDR1_uc011dms.1_Silent_p.T802T|DDR1_uc003nru.2_Silent_p.T784T|DDR1_uc003nrv.2_Silent_p.T827T|DDR1_uc003nrz.1_Silent_p.T146T	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	821	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GGAAGTTCACGACTGCGAGTG	0.592			NA											79	121					9.54843e-35	1.69896e-34	0.01441	1	0
TNXB	7148	broad.mit.edu	37	6	31977552	31977552	+	Silent	SNP	C	C	G	rs77471377		TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:31977552C>G	uc011dpc.1	-	12	2352	c.1443G>C	c.(1441-1443)CGG>CGC	p.R481R		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4097	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGGCCGCTCCCGGTTGCCGT	0.667			NA											3	30					0	0	0.009096	0	0
TTBK1	84630	broad.mit.edu	37	6	43222290	43222290	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:43222290C>G	uc003ouq.1	+	6	756	c.477C>G	c.(475-477)AAC>AAG	p.N159K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	159	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTCAAACTTTGCCATGG	0.642			NA											28	88					0	0	0.008361	0	0
AARS2	57505	broad.mit.edu	37	6	44280862	44280862	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:44280862G>A	uc010jza.1	-	1	202	c.199C>T	c.(199-201)CGC>TGC	p.R67C	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	67					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGGTCGCCGCGGGGCCGCACG	0.632			NA									OREG0017474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	0.004482	0	0
TDRD6	221400	broad.mit.edu	37	6	46657549	46657549	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:46657549G>T	uc003oyj.2	+	1	1684	c.1684G>T	c.(1684-1686)GAC>TAC	p.D562Y	TDRD6_uc010jze.2_Missense_Mutation_p.D556Y	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	562	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CAAATTGGATGACAAGAGTGT	0.428			NA											32	121					1.07637e-12	1.58235e-12	0.004878	1	0
FAM83B	222584	broad.mit.edu	37	6	54805297	54805297	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:54805297G>C	uc003pck.2	+	5	1644	c.1528G>C	c.(1528-1530)GAC>CAC	p.D510H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	510										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCTACACCGGACTCAAATGG	0.423			NA											16	66					0	0	0.004007	0	0
DST	667	broad.mit.edu	37	6	56819243	56819243	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:56819243G>T	uc003pdf.2	-	1	171	c.143C>A	c.(142-144)CCG>CAG	p.P48Q	BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGATTTCATCGGATGCCTCCC	0.557			NA											13	21					6.31663e-08	7.83505e-08	0.003163	1	0
EYS	346007	broad.mit.edu	37	6	66115233	66115234	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:66115233_66115234GG>TT	uc011dxu.1	-	6	1427_1428	c.889_890CC>AA	c.(889-891)CCT>AAT	p.P297N	EYS_uc003peq.2_Missense_Mutation_p.P297N|EYS_uc003per.1_Missense_Mutation_p.P297N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	297					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AGAAACACAAGGTTTTGCTGAC	0.366			NA											30	46					0	0	0.004672	0	0
MDN1	23195	broad.mit.edu	37	6	90365644	90365644	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:90365644A>T	uc003pnn.1	-	92	15445	c.15329T>A	c.(15328-15330)ATG>AAG	p.M5110K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5110					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGATCACCCATGGAACGTTC	0.433			NA											16	19					0	0	0.008871	0	0
GJA10	84694	broad.mit.edu	37	6	90604546	90604546	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:90604546A>G	uc011eaa.1	+	1	359	c.359A>G	c.(358-360)AAT>AGT	p.N120S		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	120	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAGATGGAGAATCCAGATCTT	0.473			NA											7	16					0	0	0.001984	0	0
MARCKS	4082	broad.mit.edu	37	6	114181669	114181669	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:114181669G>A	uc003pvy.3	+	2	1308	c.913G>A	c.(913-915)GCA>ACA	p.A305T		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	305				PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555).	energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGCGGCCGCCGCAGCCTCGTC	0.493			NA											3	21					0	0	0.004672	0	0
C6orf170	221322	broad.mit.edu	37	6	121615715	121615715	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:121615715C>A	uc003pyo.1	-	11	1299	c.1231_splice	c.e11+1	p.R411_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc003pyp.1_5'Flank	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322						multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		ATAATACTTACTGCAATGCTT	0.294			NA											25	30					3.65163e-15	5.60786e-15	0.00632	1	0
TIAM2	26230	broad.mit.edu	37	6	155450943	155450943	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr6:155450943C>A	uc003qqb.2	+	6	1859	c.586C>A	c.(586-588)CAG>AAG	p.Q196K	TIAM2_uc003qqe.2_Missense_Mutation_p.Q196K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	196					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGCCGGTGCAGCTGCTGAG	0.607			NA											11	24					2.61681e-11	3.6494e-11	0.00245	1	0
AHR	196	broad.mit.edu	37	7	17349710	17349710	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:17349710C>T	uc011jxz.1	+	2	829	c.216C>T	c.(214-216)CTC>CTT	p.L72L	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	72	Helix-loop-helix motif.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTCTTAGGCTCAGCGTCAGTT	0.393			NA											7	21					0	0	0.006214	0	0
DNAH11	8701	broad.mit.edu	37	7	21788231	21788231	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:21788231G>C	uc003svc.2	+	53	8596	c.8565G>C	c.(8563-8565)CAG>CAC	p.Q2855H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2855	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAACCCCTCAGGGCTGTGCTC	0.542			NA							Kartagener_syndrome				4	19					0	0	0.009096	0	0
GPNMB	10457	broad.mit.edu	37	7	23300116	23300116	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:23300116C>A	uc003swc.2	+	6	903	c.742C>A	c.(742-744)CGA>AGA	p.R248R	GPNMB_uc003swb.2_Silent_p.R248R|GPNMB_uc011jyy.1_Silent_p.R190R|GPNMB_uc011jyz.1_Silent_p.R149R	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	248	PKD.|Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			GAAGAACGATCGAAATTCATC	0.383			NA											19	50					1.10513e-12	1.62002e-12	0.014323	1	0
GLI3	2737	broad.mit.edu	37	7	42005519	42005519	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:42005519C>A	uc011kbh.1	-	15	3243	c.3152G>T	c.(3151-3153)CGG>CTG	p.R1051L	GLI3_uc011kbg.1_Missense_Mutation_p.R992L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1051					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						GCCCTCGGGCCGCGTGTAATT	0.662			NA							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				19	43					6.21321e-17	9.92575e-17	0.00278	1	0
TNS3	64759	broad.mit.edu	37	7	47384421	47384421	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:47384421C>A	uc003tnv.2	-	20	2949	c.2582G>T	c.(2581-2583)CGC>CTC	p.R861L	TNS3_uc003tnw.2_Missense_Mutation_p.R861L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	861						focal adhesion	protein binding			ovary(4)	4						CGGAGGATGGCGCAGCGCTGT	0.582			NA											20	37					3.8784e-16	6.10139e-16	0.012319	1	0
ZNF680	340252	broad.mit.edu	37	7	63982213	63982213	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:63982213C>A	uc003tta.2	-	4	1092	c.919G>T	c.(919-921)GCA>TCA	p.A307S	ZNF680_uc010kzr.2_Missense_Mutation_p.A234S	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	307	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				GTAAGGGTTGCAAACCAGTTA	0.343			NA											3	17					0.000602214	0.000650089	0.000602	1	0
HGF	3082	broad.mit.edu	37	7	81388018	81388018	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:81388018A>G	uc003uhl.2	-	3	522	c.357T>C	c.(355-357)TAT>TAC	p.Y119Y	HGF_uc003uhm.2_Silent_p.Y119Y|HGF_uc003uhn.1_Silent_p.Y119Y|HGF_uc003uho.1_Silent_p.Y119Y|HGF_uc003uhp.2_Silent_p.Y119Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	119	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTTTGTTTTCATAGAGGTCAA	0.343			NA											15	27					0	0	0.003163	0	0
KRIT1	889	broad.mit.edu	37	7	91842527	91842527	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:91842527G>A	uc003ulq.1	-	15	2178	c.2007C>T	c.(2005-2007)CTC>CTT	p.L669L	KRIT1_uc010lev.1_Silent_p.L426L|KRIT1_uc003ulr.1_Silent_p.L669L|KRIT1_uc003uls.1_Silent_p.L669L|KRIT1_uc003ult.1_Silent_p.L621L|KRIT1_uc003ulu.1_Silent_p.L669L|KRIT1_uc003ulv.1_Silent_p.L669L	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	669	Required for RAP1A binding.|FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCATGTTGAGGAGATGAAGTC	0.353			NA							Familial_Cerebral_Cavernous_Angioma				13	34					0	0	0.00245	0	0
TECPR1	25851	broad.mit.edu	37	7	97875324	97875324	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:97875324G>C	uc003upg.2	-	3	340	c.135C>G	c.(133-135)TGC>TGG	p.C45W	TECPR1_uc003uph.1_Intron	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	45						integral to membrane	protein binding			pancreas(1)	1						CAATGCCCCAGCAGCACTGCG	0.602			NA											3	13					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100683730	100683730	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:100683730T>C	uc003uxp.1	+	3	9086	c.9033T>C	c.(9031-9033)CCT>CCC	p.P3011P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3011	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					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)					CAAGAACTCCTGCTGACACCA	0.502			NA											155	308					0	0	0.01441	0	0
GRM8	2918	broad.mit.edu	37	7	126173481	126173481	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:126173481C>A	uc003vlr.2	-	8	2266	c.1955G>T	c.(1954-1956)CGG>CTG	p.R652L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R652L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	652	Helical; Name=3; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAGGAAGACCCGTCGGAAGGA	0.448			NA								HNSCC(24;0.065)			16	41					2.48551e-13	3.69602e-13	0.00499	1	0
TRPV5	56302	broad.mit.edu	37	7	142612158	142612158	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:142612158C>A	uc003wby.1	-	11	1609	c.1345G>T	c.(1345-1347)GGG>TGG	p.G449W		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	449	Helical; (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					ACCACCTCCCCATTGGTGTTG	0.562			NA											13	40					4.14922e-12	5.98044e-12	0.004007	1	0
OR2F2	135948	broad.mit.edu	37	7	143632559	143632559	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:143632559C>A	uc011ktv.1	+	1	234	c.234C>A	c.(232-234)GTC>GTA	p.V78V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CAAGCGTAGTCCCCCAGCTGC	0.512			NA											65	174					3.86735e-44	6.97745e-44	0.01441	1	0
MLL3	58508	broad.mit.edu	37	7	151962165	151962165	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:151962165G>T	uc003wla.2	-	8	1361	c.1142C>A	c.(1141-1143)GCA>GAA	p.A381E		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	381	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)		TTGCCAACCTGCACGTTTTAA	0.438	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								16	415					7.41877e-09	9.45207e-09	0.012319	1	0
CSMD1	64478	broad.mit.edu	37	8	2832025	2832025	+	Silent	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:2832025C>G	uc011kwk.1	-	56	9081	c.8691G>C	c.(8689-8691)ACG>ACC	p.T2897T	CSMD1_uc011kwj.1_Silent_p.T2226T|CSMD1_uc010lrg.2_Silent_p.T907T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2897	Sushi 21.|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)		GGCACACTCTCGTGTCGTTGC	0.572			NA											9	9					0	0	0.006214	0	0
MCM4	4173	broad.mit.edu	37	8	48882525	48882525	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:48882525T>G	uc003xqk.1	+	11	1437	c.1342T>G	c.(1342-1344)TTG>GTG	p.L448V	MCM4_uc003xql.1_Missense_Mutation_p.L448V|MCM4_uc011ldi.1_Missense_Mutation_p.L435V	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	448					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGTGTGGAATTGCTTAAGGA	0.403			NA											14	51					0	0	0.00499	0	0
SNTG1	54212	broad.mit.edu	37	8	51351120	51351120	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:51351120C>T	uc010lxy.1	+	6	551	c.180C>T	c.(178-180)ATC>ATT	p.I60I	SNTG1_uc003xqs.1_Silent_p.I60I|SNTG1_uc010lxz.1_Silent_p.I60I|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	60	PDZ.				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)				CGGTGACCATCAGAAGACAAA	0.378			NA											8	13					0	0	0.006214	0	0
PENK	5179	broad.mit.edu	37	8	57354112	57354112	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:57354112C>T	uc003xsz.2	-	2	604	c.523G>A	c.(523-525)GGC>AGC	p.G175S	PENK_uc003xta.3_Missense_Mutation_p.G175S	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	175					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTATCACTGCCATCCTGGTGG	0.522			NA											71	71					0	0	0.01441	0	0
TTPA	7274	broad.mit.edu	37	8	63985591	63985591	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:63985591T>C	uc003xux.1	-	2	293	c.261A>G	c.(259-261)CTA>CTG	p.L87L		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	87					lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTCTAGGGTGTAGATCTGCAC	0.383			NA											9	28					0	0	0.006214	0	0
EYA1	2138	broad.mit.edu	37	8	72211423	72211423	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:72211423A>T	uc003xys.3	-	8	972	c.685T>A	c.(685-687)TAT>AAT	p.Y229N	EYA1_uc003xyr.3_Missense_Mutation_p.Y224N|EYA1_uc003xyt.3_Missense_Mutation_p.Y196N|EYA1_uc010lzf.2_Missense_Mutation_p.Y156N|EYA1_uc003xyu.2_Missense_Mutation_p.Y229N|EYA1_uc011lfe.1_Missense_Mutation_p.Y223N|EYA1_uc003xyv.2_Missense_Mutation_p.Y107N	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	229					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTTATAATACTGTGCGTAC	0.468			NA											36	109					0	0	0.011902	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573734	86573734	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:86573734G>A	uc011lfw.1	-	1	1535	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	exonuclease GOR	665						cytoplasm|nucleus	exonuclease activity|nucleic acid binding				0						GAGGCGGACCGGTGGCGTGGC	0.687			NA											5	72					0	0	0.001984	0	0
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:95164334C>G	uc003ygh.2	-	13	1683	c.1558G>C	c.(1558-1560)GAT>CAT	p.D520H	CDH17_uc011lgo.1_Missense_Mutation_p.D306H|CDH17_uc011lgp.1_Missense_Mutation_p.D520H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	520	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTTCAAAATCAAGAGGCTGT	0.363			NA											3	48					0	0	0.004672	0	0
YWHAZ	7534	broad.mit.edu	37	8	101936182	101936182	+	Splice_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:101936182C>A	uc011lhe.1	-	5	855	c.678_splice	c.e5+1	p.T226_splice	YWHAZ_uc003yjv.2_Splice_Site_p.T226_splice|YWHAZ_uc011lhf.1_Splice_Site_p.T226_splice|YWHAZ_uc003yjw.2_Splice_Site_p.T226_splice|YWHAZ_uc010mbq.2_Splice_Site_p.T149_splice|YWHAZ_uc011lhg.1_Splice_Site_p.T106_splice|YWHAZ_uc010mbr.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjx.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjy.2_Missense_Mutation_p.V227L	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase						anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TATGTACTTACTGTCAAGTTG	0.303			NA											42	54					2.69774e-35	4.81673e-35	0.01441	1	0
CSMD3	114788	broad.mit.edu	37	8	114186070	114186070	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:114186070C>G	uc003ynu.2	-	4	749	c.590G>C	c.(589-591)GGG>GCG	p.G197A	CSMD3_uc003ynt.2_Missense_Mutation_p.G157A|CSMD3_uc011lhx.1_Missense_Mutation_p.G197A|CSMD3_uc010mcx.1_Missense_Mutation_p.G197A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	197	Extracellular (Potential).|Sushi 1.					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						GATCTTGTCCCCGACGTCGAA	0.458			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	86					0	0	0.010504	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196529	133196529	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:133196529C>A	uc003ytj.2	-	3	788	c.563G>T	c.(562-564)CGG>CTG	p.R188L	KCNQ3_uc010mdt.2_Missense_Mutation_p.R188L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	188					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGTCGGCCCCGCCAGCCTTT	0.537			NA											63	81					4.09171e-25	7.03774e-25	0.01441	1	0
FAM135B	51059	broad.mit.edu	37	8	139160884	139160884	+	Silent	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:139160884T>C	uc003yuy.2	-	14	3498	c.3327A>G	c.(3325-3327)GAA>GAG	p.E1109E	FAM135B_uc003yux.2_Silent_p.E1010E|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Silent_p.E671E|FAM135B_uc003yvb.2_Intron	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1109										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGAAATCCTTCAATCTTCA	0.363			NA								HNSCC(54;0.14)			25	14					0	0	0.003954	0	0
TSNARE1	203062	broad.mit.edu	37	8	143395770	143395770	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:143395770G>A	uc003ywk.2	-	9	1224	c.1106C>T	c.(1105-1107)CCC>CTC	p.P369L	TSNARE1_uc011lju.1_Missense_Mutation_p.P368L|TSNARE1_uc003ywj.2_Missense_Mutation_p.P369L|TSNARE1_uc003ywl.3_Missense_Mutation_p.P149L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	369					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGCGCCATGGGAAGCAGCGC	0.522			NA											8	23					0	0	0.008291	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144296999	144296999	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr8:144296999C>A	uc003yxu.1	+	3	368	c.293C>A	c.(292-294)ACC>AAC	p.T98N		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	98	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACGGGAACACCGGTAAGTGG	0.677			NA											9	28					1.12685e-05	1.29789e-05	0.004482	1	0
DENND4C	55667	broad.mit.edu	37	9	19316466	19316466	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:19316466C>T	uc003znq.2	+	7	864	c.831C>T	c.(829-831)TGC>TGT	p.C277C	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	277						integral to membrane				ovary(1)|skin(1)	2						AAAAGCCGTGCAAAAATCTAC	0.328			NA											15	12					0	0	0.006122	0	0
MOBKL2B	79817	broad.mit.edu	37	9	27359199	27359199	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:27359199T>A	uc003zqn.2	-	3	950	c.454A>T	c.(454-456)AAG>TAG	p.K152*		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	152				K -> M (in Ref. 5; AAH33027).			metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)		AGGATCTTCTTGCAGATCTGA	0.473			NA											49	125					0	0	0.01441	0	0
LINGO2	158038	broad.mit.edu	37	9	27949358	27949358	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:27949358G>A	uc003zqu.1	-	2	1506	c.1312C>T	c.(1312-1314)CCG>TCG	p.P438S	LINGO2_uc010mjf.1_Missense_Mutation_p.P438S|LINGO2_uc003zqv.1_Missense_Mutation_p.P438S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACAGGCTGCGGGTCTCCATCT	0.517			NA											14	40					0	0	0.00245	0	0
TOPORS	10210	broad.mit.edu	37	9	32541401	32541401	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:32541401T>C	uc003zrb.2	-	3	3289	c.3122A>G	c.(3121-3123)GAC>GGC	p.D1041G	TOPORS_uc003zrc.2_Missense_Mutation_p.D974G	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	1041					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CATATCACAGTCTCTACCAAG	0.383			NA											10	29					0	0	0.010729	0	0
TAF1L	138474	broad.mit.edu	37	9	32635371	32635371	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:32635371C>T	uc003zrg.1	-	1	297	c.207G>A	c.(205-207)GGG>GGA	p.G69G	uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	69					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)		GCCCCAAAGCCCCCAAGCCTG	0.537			NA											23	79					0	0	0.004656	0	0
C9orf100	84904	broad.mit.edu	37	9	35663038	35663038	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:35663038C>T	uc003zxm.1	-	6	690	c.578G>A	c.(577-579)AGA>AAA	p.R193K	C9orf100_uc003zxl.2_RNA	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	hypothetical protein LOC84904	193	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTATGGACTCTCTGGGCAGT	0.537			NA											9	51					0	0	0.006214	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625072	43625072	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:43625072G>A	uc011lrb.1	-	4	3644	c.3615C>T	c.(3613-3615)CTC>CTT	p.L1205L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1205						integral to membrane					0						CTGCCGTCATGAGACCCTGAG	0.468			NA											50	122					0	0	0.01441	0	0
Unknown	0	broad.mit.edu	37	9	84675888	84675888	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:84675888C>T	uc010mpu.1	-	3	540	c.537G>A	c.(535-537)GGG>GGA	p.G179G		NM_001164339	NP_001157811			hypothetical protein LOC404770												NA						AGAGTGGAGTCCCACAGGGGA	0.562			NA											89	166					0	0	0.01441	0	0
ROR2	4920	broad.mit.edu	37	9	94486827	94486827	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:94486827C>A	uc004arj.1	-	9	2148	c.1949G>T	c.(1948-1950)GGG>GTG	p.G650V	ROR2_uc004ari.1_Missense_Mutation_p.G510V	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	650	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CAGCGAGTTCCCCAGCAGCTT	0.572			NA											16	33					1.02788e-11	1.45312e-11	0.00499	1	0
ZNF484	83744	broad.mit.edu	37	9	95609655	95609655	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:95609655C>G	uc004asu.1	-	5	1563	c.1414G>C	c.(1414-1416)GAA>CAA	p.E472Q	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.E474Q|ZNF484_uc010mrb.1_Missense_Mutation_p.E436Q|ZNF484_uc004asv.1_Missense_Mutation_p.E436Q	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	472	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCCCACATTCTGAACATATA	0.393			NA											6	31					0	0	0.001168	0	0
FAM22F	54754	broad.mit.edu	37	9	97082809	97082809	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:97082809C>A	uc004aup.1	-	5	1070	c.1049G>T	c.(1048-1050)AGG>ATG	p.R350M		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	350	Pro-rich.										0		Acute lymphoblastic leukemia(62;0.136)				CTCCGCTGGCCTCTGGGGCCT	0.701			NA											11	21					2.48551e-13	3.69602e-13	0.00499	1	0
OR13F1	138805	broad.mit.edu	37	9	107267135	107267135	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:107267135A>T	uc011lvm.1	+	1	592	c.592A>T	c.(592-594)ATC>TTC	p.I198F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						GGTGCAGTTAATCATGCTGGT	0.438			NA											60	116					0	0	0.01441	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422119	115422119	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:115422119C>T	uc004bgf.1	+	4	2096	c.1921C>T	c.(1921-1923)CGG>TGG	p.R641W	KIAA1958_uc011lwx.1_Missense_Mutation_p.R669W	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	641										skin(1)	1						GTACATCCACCGGCCGCCCAC	0.587			NA											3	29					0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	119115904	119115904	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:119115904G>A	uc004bjn.2	+	17	4560	c.4179G>A	c.(4177-4179)CGG>CGA	p.R1393R	PAPPA_uc011lxq.1_Silent_p.R768R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1393	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CTTGAAGACGGGCCTTCAAGA	0.537			NA											24	56					0	0	0.00333	0	0
TTLL11	158135	broad.mit.edu	37	9	124855658	124855658	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:124855658C>T	uc004blt.1	-	1	228	c.40G>A	c.(40-42)GCA>ACA	p.A14T	TTLL11_uc011lyl.1_Missense_Mutation_p.A14T|TTLL11_uc004blr.2_RNA|TTLL11_uc004blu.1_Missense_Mutation_p.A14T	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	14					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						GGCGAGGCTGCCCACGTGACC	0.692			NA											6	12					0	0	0.001168	0	0
KIAA0649	9858	broad.mit.edu	37	9	138376987	138376987	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:138376987G>T	uc004cfr.1	+	4	1180	c.631G>T	c.(631-633)GCC>TCC	p.A211S		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	211						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CCAGGGCTCCGCCTCCCCGGT	0.592			NA											34	76					1.96642e-18	3.21099e-18	0.006999	1	0
UAP1L1	91373	broad.mit.edu	37	9	139973038	139973038	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr9:139973038C>A	uc010ncb.2	+	3	611	c.579C>A	c.(577-579)AAC>AAA	p.N193K	UAP1L1_uc004cla.3_Missense_Mutation_p.N70K	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	193							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACCCCGCCAACGTGGTCATGT	0.607			NA											8	50					1.26484e-09	1.66071e-09	0.00308	1	0
ARSH	347527	broad.mit.edu	37	X	2933093	2933093	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:2933093C>T	uc011mhj.1	+	4	423	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	141						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTACTTTTACGGGGTGCCTT	0.498			NA											8	21					0	0	0.004482	0	0
MID1	4281	broad.mit.edu	37	X	10417750	10417750	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:10417750G>T	uc004cte.3	-	10	1853	c.1662C>A	c.(1660-1662)GCC>GCA	p.A554A	MID1_uc004ctd.3_Silent_p.A265A|MID1_uc004ctg.3_Silent_p.A554A|MID1_uc004cth.3_Silent_p.A516A|MID1_uc004ctk.3_Silent_p.A554A|MID1_uc004cti.3_Silent_p.A554A|MID1_uc004ctj.3_Silent_p.A554A|MID1_uc004csz.3_Silent_p.A226A|MID1_uc004cta.3_Silent_p.A310A|MID1_uc004ctb.3_Silent_p.A214A|MID1_uc004ctc.3_Silent_p.A321A	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	554	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						CAAGACCAATGGCATACCTGC	0.478			NA											10	26					0.000673444	0.000722447	0.008291	1	0
ZRSR2	8233	broad.mit.edu	37	X	15840940	15840940	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:15840940G>T	uc004cxg.3	+	11	1069	c.1024G>T	c.(1024-1026)GCT>TCT	p.A342S		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	342					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					ATTCTGGGAAGCTAATAGAGA	0.463	NSCLC(197;1631 3042 5741 31152)		NA											18	48					6.49762e-13	9.57935e-13	0.006122	1	0
NHS	4810	broad.mit.edu	37	X	17746878	17746878	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:17746878A>G	uc004cxx.2	+	7	4607	c.4269A>G	c.(4267-4269)TTA>TTG	p.L1423L	NHS_uc011mix.1_Silent_p.L1444L|NHS_uc004cxy.2_Silent_p.L1267L|NHS_uc004cxz.2_Silent_p.L1246L|NHS_uc004cya.2_Silent_p.L1146L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1423						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CTGAGGATTTATTTGCAGTCA	0.443			NA											20	53					0	0	0.014323	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627197	21627197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:21627197C>A	uc004czx.1	+	20	2190	c.2154C>A	c.(2152-2154)TGC>TGA	p.C718*	CNKSR2_uc004czw.2_Nonsense_Mutation_p.C718*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.C669*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.C688*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.C310*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	718					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AGATGAGTTGCGCCAGTCCTT	0.458			NA											11	24					6.40141e-05	7.14963e-05	0.010729	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157161	26157161	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:26157161G>T	uc004dbq.1	+	2	246	c.59G>T	c.(58-60)TGT>TTT	p.C20F		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	20							protein binding			central_nervous_system(1)	1						CAGGCTCGTTGTGAGAATCAG	0.537			NA											17	35					4.75885e-15	7.26499e-15	0.00499	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254096	30254096	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30254096C>A	uc004dca.1	+	5	792	c.55C>A	c.(55-57)CGG>AGG	p.R19R		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	19											0						CCAGCAGACCCGGGGTCAGAC	0.532			NA											14	45					6.31663e-08	7.83505e-08	0.003163	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254525	30254525	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30254525G>T	uc004dca.1	+	5	1221	c.484G>T	c.(484-486)GTG>TTG	p.V162L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	162	MAGE.										0						CAACATGGAGGTGGTATTTGG	0.393			NA											15	32					0.000219431	0.000240396	0.00245	1	0
CXorf21	80231	broad.mit.edu	37	X	30578036	30578036	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:30578036G>T	uc004dcg.1	-	3	713	c.437C>A	c.(436-438)TCT>TAT	p.S146Y		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	146										ovary(1)	1						ACTGCTCTCAGAGGGAAAATC	0.423			NA											12	29					1.49906e-05	1.71511e-05	0.00245	1	0
DMD	1756	broad.mit.edu	37	X	32398778	32398778	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:32398778T>A	uc004dda.1	-	34	4938	c.4694A>T	c.(4693-4695)CAG>CTG	p.Q1565L	DMD_uc004dcw.2_Missense_Mutation_p.Q221L|DMD_uc004dcx.2_Missense_Mutation_p.Q224L|DMD_uc004dcz.2_Missense_Mutation_p.Q1442L|DMD_uc004dcy.1_Missense_Mutation_p.Q1561L|DMD_uc004ddb.1_Missense_Mutation_p.Q1557L|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1565	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCTCCAACTGTTGCTTTCT	0.323			NA											24	50					0	0	0.00333	0	0
FAM47B	170062	broad.mit.edu	37	X	34961170	34961170	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:34961170C>A	uc004ddi.1	+	1	240	c.222C>A	c.(220-222)GAC>GAA	p.D74E		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	74										ovary(3)|breast(1)	4						GTCGCCGTGACGAGTTTTTAC	0.527			NA											24	55					3.08376e-08	3.85284e-08	0.00333	1	0
FAM47B	170062	broad.mit.edu	37	X	34961213	34961213	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:34961213G>T	uc004ddi.1	+	1	283	c.265G>T	c.(265-267)GAC>TAC	p.D89Y		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	89										ovary(3)|breast(1)	4						TCCCCAAGCTGACCGCAAAAG	0.532			NA											29	56					2.81731e-10	3.79565e-10	0.010818	1	0
ZNF630	57232	broad.mit.edu	37	X	47917869	47917869	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:47917869C>G	uc004div.3	-	5	2214	c.1962G>C	c.(1960-1962)TTG>TTC	p.L654F	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.L530F	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						AGCATATATACAAGGTGTCTT	0.438			NA											14	36					0	0	0.004007	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49138527	49138527	+	Splice_Site	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:49138527G>T	uc004dnh.1	+	3	1159	c.1143_splice	c.e3+1	p.Q381_splice	PPP1R3F_uc011mnd.1_Splice_Site_p.Q52_splice|PPP1R3F_uc004dni.2_Splice_Site_p.Q35_splice|PPP1R3F_uc004dnj.1_Splice_Site_p.Q35_splice	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)							integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GACACTTCAGGTAAGTGGGTC	0.592			NA											10	22					0.000673444	0.000722447	0.008291	1	0
DGKK	139189	broad.mit.edu	37	X	50121611	50121611	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:50121611G>A	uc010njr.1	-	21	3001	c.2941C>T	c.(2941-2943)CGT>TGT	p.R981C		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	981					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TTGATGATACGGGACATTGCC	0.542			NA											5	20					0	0	0.001984	0	0
HSD17B10	3028	broad.mit.edu	37	X	53459013	53459013	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:53459013C>A	uc004dsl.1	-	4	440	c.409G>T	c.(409-411)GGC>TGC	p.G137C	HSD17B10_uc004dsm.1_Missense_Mutation_p.G137C	NM_004493	NP_004484	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	137					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity				0					NADH(DB00157)	TCATTCTGGCCCATCTCACCA	0.562			NA											26	53					1.85244e-09	2.42604e-09	0.00333	1	0
HUWE1	10075	broad.mit.edu	37	X	53579703	53579703	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:53579703C>G	uc004dsp.2	-	62	9048	c.8646G>C	c.(8644-8646)CAG>CAC	p.Q2882H	HUWE1_uc004dsn.2_Missense_Mutation_p.Q1706H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2882					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTGCTCTGGGCTGCTCAGAAC	0.607			NA											20	43					0	0	0.00278	0	0
FGD1	2245	broad.mit.edu	37	X	54496629	54496629	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:54496629G>T	uc004dtg.2	-	4	1655	c.921C>A	c.(919-921)AGC>AGA	p.S307R	FGD1_uc011moi.1_Missense_Mutation_p.S65R	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	307	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGAGGCTGTGGCTGGGGGGCC	0.637			NA											13	10					1.49906e-05	1.71511e-05	0.00245	1	0
ALAS2	212	broad.mit.edu	37	X	55042168	55042168	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:55042168G>T	uc004dua.3	-	8	1149	c.1011C>A	c.(1009-1011)ATC>ATA	p.I337I	ALAS2_uc004dub.3_Silent_p.I324I|ALAS2_uc004dud.3_Silent_p.I300I	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	337					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CGAGGGGACAGATGGCACCTG	0.552			NA											10	32					7.03913e-09	9.0353e-09	0.013537	1	0
KLF8	11279	broad.mit.edu	37	X	56310764	56310764	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:56310764G>T	uc004dur.2	+	6	1863	c.917G>T	c.(916-918)TGC>TTC	p.C306F	KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	306	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTATAAATGCACCTGGGAT	0.448			NA											2	7					0.004672	0.00484087	0.004672	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591627	56591627	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:56591627G>T	uc004dus.2	+	1	1556	c.1321G>T	c.(1321-1323)GAC>TAC	p.D441Y	UBQLN2_uc011moq.1_Missense_Mutation_p.D441Y	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	441						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GCAGAATCCAGACACACTATC	0.532	Esophageal Squamous(104;218 1492 6022 10838 28884)		NA											13	40					2.32078e-09	3.01644e-09	0.003163	1	0
PJA1	64219	broad.mit.edu	37	X	68382689	68382689	+	Silent	SNP	A	A	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:68382689A>T	uc004dxh.2	-	2	679	c.393T>A	c.(391-393)GCT>GCA	p.A131A	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Silent_p.A76A	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	131							zinc ion binding				0						CAACAGGCCCAGCCCCCTCCT	0.532			NA											25	34					0	0	0.005443	0	0
TEX11	56159	broad.mit.edu	37	X	69902567	69902567	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:69902567C>A	uc004dyl.2	-	15	1320	c.1158G>T	c.(1156-1158)AAG>AAT	p.K386N	TEX11_uc004dyk.2_Missense_Mutation_p.K61N|TEX11_uc004dym.2_Missense_Mutation_p.K371N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	386							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					GAAGTTCTTCCTTCCTTTGTA	0.333			NA											7	14					1.58986e-06	1.87728e-06	0.008291	1	0
ZMYM3	9203	broad.mit.edu	37	X	70465190	70465190	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:70465190C>G	uc004dzh.1	-	18	3093	c.3006G>C	c.(3004-3006)AAG>AAC	p.K1002N	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K1002N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K990N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1002					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CTTACTCACTCTTAGGGAAGT	0.527			NA											20	45					0	0	0.00278	0	0
RGAG4	340526	broad.mit.edu	37	X	71350845	71350845	+	Silent	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:71350845G>A	uc010nlh.1	-	1	907	c.546C>T	c.(544-546)CCC>CCT	p.P182P	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	182										ovary(2)|skin(1)	3	Renal(35;0.156)					CGGCGCCCCCGGGGAAATGAA	0.582			NA											7	32					0	0	0.001984	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648363	75648363	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:75648363C>T	uc004ecm.1	+	1	247	c.40C>T	c.(40-42)CGC>TGC	p.R14C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	14	Poly-Arg.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ccgccgccgccgcgTTGCAAA	0.562			NA											5	17					0	0	0.000602	0	0
DRP2	1821	broad.mit.edu	37	X	100505499	100505499	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:100505499G>T	uc004egz.2	+	15	1997	c.1628G>T	c.(1627-1629)CGT>CTT	p.R543L	DRP2_uc011mrh.1_Missense_Mutation_p.R465L	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	543					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CAGGTGCCCCGTCAGCTGGGT	0.552			NA											35	78					9.8876e-21	1.66189e-20	0.004878	1	0
TAF7L	54457	broad.mit.edu	37	X	100548010	100548010	+	Silent	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:100548010G>C	uc004ehb.2	-	1	36	c.24C>G	c.(22-24)CTC>CTG	p.L8L	TAF7L_uc004ehc.1_5'Flank	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	8					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						AAGAAATGGGGAGCTGTCCCT	0.493	Ovarian(104;431 1530 3210 15406 18594)		NA											76	235					0	0	0.01441	0	0
NXF5	55998	broad.mit.edu	37	X	101092551	101092551	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101092551T>A	uc011mrk.1	-	15	1355	c.995A>T	c.(994-996)CAG>CTG	p.Q332L	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	332	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						GAAGTCATGCTGAGTTTCAGG	0.542			NA											53	110					0	0	0.01441	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911737	101911737	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101911737G>T	uc004ejj.3	+	5	3697	c.2896G>T	c.(2896-2898)GGG>TGG	p.G966W	GPRASP1_uc004eji.3_Missense_Mutation_p.G966W|GPRASP1_uc010nod.2_Missense_Mutation_p.G966W	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	966	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AAATGAGGAAGGGGCCATTGT	0.473			NA											15	56					5.3912e-06	6.25137e-06	0.006122	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911813	101911813	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:101911813C>G	uc004ejj.3	+	5	3773	c.2972C>G	c.(2971-2973)TCC>TGC	p.S991C	GPRASP1_uc004eji.3_Missense_Mutation_p.S991C|GPRASP1_uc010nod.2_Missense_Mutation_p.S991C	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	991	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AACTGTGGGTCCAGGACATTA	0.517			NA											13	73					0	0	0.00245	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931962	102931962	+	Translation_Start_Site	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:102931962C>A	uc004ekw.2	-	4	1226	c.-6G>T	c.(-8--4)CAGGG>CATGG		MORF4L2_uc004ela.2_Translation_Start_Site|MORF4L2_uc004ekx.2_Translation_Start_Site|MORF4L2_uc004elb.2_Translation_Start_Site|MORF4L2_uc004eky.2_Translation_Start_Site|MORF4L2_uc010nos.2_Translation_Start_Site|MORF4L2_uc004ekz.2_Translation_Start_Site|MORF4L2_uc011mry.1_Translation_Start_Site|MORF4L2_uc011mrz.1_Translation_Start_Site|MORF4L2_uc004elc.2_Translation_Start_Site|MORF4L2_uc004elf.2_Translation_Start_Site|MORF4L2_uc004ele.2_Translation_Start_Site|MORF4L2_uc011msa.1_Translation_Start_Site|MORF4L2_uc011msb.1_Translation_Start_Site|MORF4L2_uc011msc.1_Translation_Start_Site|MORF4L2_uc011msd.1_Translation_Start_Site|MORF4L2_uc004eld.2_Translation_Start_Site	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2						chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						TCATTCAACCCTGTTTTTATT	0.368			NA											14	57					2.23348e-06	2.62523e-06	0.004007	1	0
PLP1	5354	broad.mit.edu	37	X	103041545	103041545	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:103041545G>A	uc010nov.2	+	4	623	c.343G>A	c.(343-345)GCA>ACA	p.A115T	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.A115T|PLP1_uc004elj.2_Missense_Mutation_p.A115T|PLP1_uc011msf.1_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.2_Missense_Mutation_p.A69T	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	115	Cytoplasmic (Probable).				cell death|synaptic transmission	integral to membrane				ovary(1)	1						GGGCCTGAGCGCAACGGTAAC	0.582			NA											42	93					0	0	0.006999	0	0
PLP1	5354	broad.mit.edu	37	X	103041617	103041617	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:103041617T>A	uc010nov.2	+	4	695	c.415T>A	c.(415-417)TGT>AGT	p.C139S	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.C139S|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.C84S|PLP1_uc010now.1_Missense_Mutation_p.C143S|PLP1_uc010nox.2_Missense_Mutation_p.C93S	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	139	Cytoplasmic (Probable).		Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				ovary(1)	1						GGAGCGGGTGTGTCATTGTTT	0.557			NA											58	139					0	0	0.01441	0	0
RNF128	79589	broad.mit.edu	37	X	105970235	105970235	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:105970235C>G	uc004eml.2	+	1	342	c.92C>G	c.(91-93)CCG>CGG	p.P31R	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	31						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCCCTGAGTCCGCAGGCACCC	0.706			NA											3	17					0	0	0.009096	0	0
TSC22D3	1831	broad.mit.edu	37	X	106959973	106959973	+	Silent	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:106959973G>T	uc004eng.2	-	1	319	c.69C>A	c.(67-69)TCC>TCA	p.S23S	TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	23	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity				0						AAGAGAAGAAGGAGATGGAGA	0.612			NA											35	72					2.05212e-20	3.41578e-20	0.005524	1	0
ALG13	79868	broad.mit.edu	37	X	110951467	110951467	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:110951467C>A	uc011msy.1	+	4	630	c.596C>A	c.(595-597)CCC>CAC	p.P199H	ALG13_uc011msw.1_Missense_Mutation_p.P121H|ALG13_uc011msx.1_Missense_Mutation_p.P95H|ALG13_uc011msz.1_Missense_Mutation_p.P121H|ALG13_uc011mta.1_Missense_Mutation_p.P95H|ALG13_uc011mtb.1_Missense_Mutation_p.P95H			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	199					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CCTCTTACCCCCACCCTGTAC	0.468			NA											11	31					1.08611e-07	1.3249e-07	0.010729	1	0
UPF3B	65109	broad.mit.edu	37	X	118972440	118972440	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:118972440T>A	uc004erz.1	-	9	974	c.897A>T	c.(895-897)GAA>GAT	p.E299D	UPF3B_uc004esa.1_Missense_Mutation_p.E286D	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	299	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TCTTGGCTTTTTCTCTTTTGT	0.363			NA											11	53					0	0	0.010729	0	0
UPF3B	65109	broad.mit.edu	37	X	118974609	118974609	+	Silent	SNP	A	A	G			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:118974609A>G	uc004erz.1	-	8	923	c.846T>C	c.(844-846)AAT>AAC	p.N282N	UPF3B_uc004esa.1_Intron	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	282	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TGGTCCTTACATTTTTCTGAT	0.388			NA											7	23					0	0	0.004482	0	0
OCRL	4952	broad.mit.edu	37	X	128709136	128709136	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:128709136G>A	uc004euq.2	+	16	1787	c.1622G>A	c.(1621-1623)CGA>CAA	p.R541Q	OCRL_uc004eur.2_Missense_Mutation_p.R541Q	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	541					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						GTGGATGAACGAAGGTACCGG	0.408			NA											31	48					0	0	0.005524	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128901599	128901599	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:128901599C>A	uc004eut.1	+	20	2005	c.1761C>A	c.(1759-1761)ACC>ACA	p.T587T		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	587					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCTACCTGACCTTTGAAGTGG	0.572			NA											34	88					8.69298e-16	1.35108e-15	0.006999	1	0
BCORL1	63035	broad.mit.edu	37	X	129146954	129146954	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129146954G>T	uc004evb.1	+	4	320	c.206G>T	c.(205-207)AGC>ATC	p.S69I	BCORL1_uc010nrd.1_5'UTR	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	69					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GGAAGTGGCAGCAATGCCCGG	0.572			NA											44	163					3.31993e-32	5.86672e-32	0.01441	1	0
BCORL1	63035	broad.mit.edu	37	X	129149417	129149417	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129149417G>A	uc004evb.1	+	4	2783	c.2669G>A	c.(2668-2670)CGG>CAG	p.R890Q	BCORL1_uc010nrd.1_Missense_Mutation_p.R792Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	890					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GGGCAACCACGGCCTGGGGGC	0.577			NA											14	52					0	0	0.00245	0	0
AIFM1	9131	broad.mit.edu	37	X	129281502	129281502	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:129281502G>T	uc004evg.2	-	5	749	c.571C>A	c.(571-573)CTG>ATG	p.L191M	AIFM1_uc011mus.1_Missense_Mutation_p.L191M|AIFM1_uc004evh.2_Missense_Mutation_p.L187M|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	191	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5						TTGAATCGCAGTGTCTTTGTG	0.413			NA											18	72					9.7654e-05	0.000108364	0.007413	1	0
TFDP3	51270	broad.mit.edu	37	X	132351379	132351379	+	Silent	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:132351379C>T	uc004exb.1	-	1	998	c.909G>A	c.(907-909)GGG>GGA	p.G303G		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	303	Involved in negatively regulating E2F activity.|DCB2 (By similarity).					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CGGACTCTAGCCCAAAAGTCA	0.483			NA											17	49					0	0	0.00499	0	0
ZIC3	7547	broad.mit.edu	37	X	136649358	136649358	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:136649358G>C	uc004fak.2	+	1	1013	c.508G>C	c.(508-510)GCT>CCT	p.A170P		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	170					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGAGCAGGGCGCTGGGCACCC	0.697			NA											13	44					0	0	0.00245	0	0
ATP11C	286410	broad.mit.edu	37	X	138878530	138878530	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:138878530C>A	uc004faz.2	-	12	1216	c.1117G>T	c.(1117-1119)GGC>TGC	p.G373C	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G373C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	373	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					AAGAAGGAGCCCAAGAATTTC	0.378			NA											15	27					1.5739e-10	2.13719e-10	0.004007	1	0
MTM1	4534	broad.mit.edu	37	X	149761086	149761086	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:149761086G>T	uc004fef.3	+	2	86	c.10G>T	c.(10-12)GCA>TCA	p.A4S	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.A4S|MTM1_uc011mxz.1_5'UTR|MTM1_uc010nte.2_5'UTR	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	4					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCTTCTGCATCAACTTC	0.328			NA											21	44					7.92952e-12	1.12408e-11	0.003954	1	0
MTM1	4534	broad.mit.edu	37	X	149809819	149809819	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:149809819G>C	uc004fef.3	+	8	682	c.606G>C	c.(604-606)TTG>TTC	p.L202F	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.L165F|MTM1_uc011mxz.1_Missense_Mutation_p.L87F|MTM1_uc010nte.2_Missense_Mutation_p.L70F	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	202	Myotubularin phosphatase.		L -> S (in XCNM; severe).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTCTTTTGGTGGTTCCGT	0.428			NA											33	71					0	0	0.00623	0	0
VMA21	203547	broad.mit.edu	37	X	150572114	150572114	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:150572114C>T	uc004feu.2	+	2	141	c.65C>T	c.(64-66)TCA>TTA	p.S22L		NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog	22					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome					0						AATGAAAGCTCATTAGCATCT	0.353			NA											24	84					0	0	0.003954	0	0
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:152937358C>A	uc011myu.1	-	5	826	c.640G>T	c.(640-642)GGG>TGG	p.G214W	PNCK_uc011myt.1_Missense_Mutation_p.G148W|PNCK_uc004fia.2_Missense_Mutation_p.G143W|PNCK_uc004fhz.3_Missense_Mutation_p.G29W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G158W|PNCK_uc011myw.1_Missense_Mutation_p.G158W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	131	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662			NA											10	23					2.74318e-10	3.70545e-10	0.006214	1	0
SLC6A8	6535	broad.mit.edu	37	X	152957557	152957557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:152957557G>T	uc004fib.3	+	4	1050	c.772G>T	c.(772-774)GGA>TGA	p.G258*	SLC6A8_uc004fic.3_Nonsense_Mutation_p.G258*|SLC6A8_uc011myx.1_Nonsense_Mutation_p.G143*|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Nonsense_Mutation_p.G143*	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	258	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAAATCCACGGGAAAGGTACC	0.627			NA											3	12					1.024e-07	1.26408e-07	0.000602	1	0
TMEM187	8269	broad.mit.edu	37	X	153247965	153247965	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:153247965C>A	uc004fjq.2	+	2	986	c.452C>A	c.(451-453)GCC>GAC	p.A151D	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	151	Helical; (Potential).					integral to membrane|transport vesicle					0	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)					GTCTCCCTGGCCAGTTATGGC	0.672			NA											6	21					2.0095e-06	2.36735e-06	0.001984	1	0
TKTL1	8277	broad.mit.edu	37	X	153533764	153533764	+	Silent	SNP	C	C	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:153533764C>A	uc004fkg.2	+	2	429	c.243C>A	c.(241-243)GTC>GTA	p.V81V	TKTL1_uc011mzl.1_Silent_p.V75V|TKTL1_uc011mzm.1_Silent_p.V81V|TKTL1_uc004fkh.2_Silent_p.V25V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	81					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCGATTTGTCCTCGCAAAGG	0.537			NA											15	27					8.10497e-08	1.00292e-07	0.010504	1	0
NTNG1	22854	broad.mit.edu	37	1	107691365	107691365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:107691365delC	uc001dvh.3	+	2	868	c.150delC	c.(148-150)TGCfs	p.C50fs	NTNG1_uc001dvf.3_Frame_Shift_Del_p.C50fs|NTNG1_uc010out.1_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvc.3_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvd.1_Frame_Shift_Del_p.C50fs	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	50	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACATGGCCTGCCAGCCGGAAT	0.478			NA											25	80	---	---	---	---	NA	NA	NA	NA	NA
IGSF3	3321	broad.mit.edu	37	1	117120039	117120039	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:117120039delC	uc001egr.1	-	11	4185	c.3480delG	c.(3478-3480)GGGfs	p.G1160fs	IGSF3_uc001egq.1_Frame_Shift_Del_p.G1180fs	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1160	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCCCATTCTTCCCATCAGAGT	0.522			NA											15	44	---	---	---	---	NA	NA	NA	NA	NA
LCE2A	353139	broad.mit.edu	37	1	152671416	152671416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr1:152671416delT	uc001faj.2	+	2	90	c.39delT	c.(37-39)CCTfs	p.P13fs		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	13	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCCCTCCCAAGTGCC	0.552			NA											67	228	---	---	---	---	NA	NA	NA	NA	NA
ST3GAL4	6484	broad.mit.edu	37	11	126278003	126278003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr11:126278003delC	uc001qds.2	+	7	570	c.351delC	c.(349-351)TGCfs	p.C117fs	ST3GAL4_uc001qdt.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdu.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdv.2_Frame_Shift_Del_p.C117fs|ST3GAL4_uc009zce.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdw.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	117	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCTCAGGTGCCGCCGCTGTG	0.597			NA											19	40	---	---	---	---	NA	NA	NA	NA	NA
KIAA1409	57578	broad.mit.edu	37	14	94079174	94079175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr14:94079174_94079175insA	uc001ybv.1	+	25	3404_3405	c.3321_3322insA	c.(3319-3324)ATCAAGfs	p.I1107fs	KIAA1409_uc001ybs.1_Frame_Shift_Ins_p.I1085fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1262_1263						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ACAACACCATCAAGGACCTGCT	0.49			NA											11	54	---	---	---	---	NA	NA	NA	NA	NA
SMCR8	140775	broad.mit.edu	37	17	18219588	18219588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr17:18219588delA	uc002gsy.3	+	1	995	c.485delA	c.(484-486)CAGfs	p.Q162fs		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	162										central_nervous_system(1)	1						TCTGCAGACCAGCATAAAATC	0.522			NA											16	15	---	---	---	---	NA	NA	NA	NA	NA
LAMA5	3911	broad.mit.edu	37	20	60888854	60888854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr20:60888854delG	uc002ycq.2	-	63	8576	c.8509delC	c.(8509-8511)CTCfs	p.L2837fs		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2837	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAACTGGAGAGTCCTGAGG	0.348			NA											11	36	---	---	---	---	NA	NA	NA	NA	NA
GPR27	2850	broad.mit.edu	37	3	71803229	71803231	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	GCG	GCG	-	-	GCG	GCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr3:71803229_71803231delGCG	uc011bge.1	+	1	29_31	c.29_31delGCG	c.(28-33)AGCGGC>AGC	p.G13del	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	13	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCGGGTGGCAGCGGCGGCGGCGA	0.773			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr5:6755013_6755014delAC	uc003jdx.1	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)AAACACfs	p.K528fs	PAPD7_uc011cmn.1_Frame_Shift_Del_p.K518fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	528_529					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						GGAGGAAAAAACACACACACAC	0.653	NSCLC(7;212 333 5667 23379 46547)		NA											8	95	---	---	---	---	NA	NA	NA	NA	NA
C7orf57	136288	broad.mit.edu	37	7	48075920	48075921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chr7:48075920_48075921insA	uc003toh.3	+	2	227_228	c.15_16insA	c.(13-18)AGCAAGfs	p.S5fs	C7orf57_uc003toi.3_Intron	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	5_6										ovary(1)	1						GGAACACAAGCAAGGAACTTCA	0.649			NA											4	6	---	---	---	---	NA	NA	NA	NA	NA
CNKSR2	22866	broad.mit.edu	37	X	21534647	21534647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7938-01A-11D-2167-08	TCGA-97-7938-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfca795-a40d-4a4b-9dfd-af3d0a683c46	82ce5155-d67c-45f1-843b-f7bfb2e4675d	g.chrX:21534647delC	uc004czx.1	+	9	891	c.855delC	c.(853-855)GACfs	p.D285fs	CNKSR2_uc004czw.2_Frame_Shift_Del_p.D285fs|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.D285fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	285	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TACGAGAGGACCCGAGTGGTG	0.418			NA											29	79	---	---	---	---	NA	NA	NA	NA	NA
