Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
KIF17	57576	broad.mit.edu	37	1	21013938	21013938	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:21013938G>A	uc001bdr.3	-	8	1999	c.1881C>T	c.(1879-1881)TCC>TCT	p.S627S	KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Silent_p.S627S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	627					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637		NA											34	72					0	0	0	0
FAM46B	115572	broad.mit.edu	37	1	27339026	27339026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:27339026C>A	uc010ofj.1	-	1	308	c.136G>T	c.(136-138)GGA>TGA	p.G46*		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	46										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTGCCGTCCGGGGAAGGCC	0.453		NA											3	18					0.004672	0.00929499	1	0
BMP8B	656	broad.mit.edu	37	1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:40228830C>A	uc001cdz.1	-	6	1369	c.993G>T	c.(991-993)GAG>GAT	p.E331D	PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	331					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632		NA											6	83					0.00198382	0.00397462	1	0
C1orf168	199920	broad.mit.edu	37	1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:57257788C>T	uc001cym.3	-	2	1104	c.698G>A	c.(697-699)AGC>AAC	p.S233N	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.S233N	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	233										ovary(3)|skin(2)	5						GCTTGCCGGGCTCCTCTCAGG	0.532		NA											38	80					0	0	0	0
SERBP1	26135	broad.mit.edu	37	1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:67889975T>C	uc001ddv.2	-	5	866	c.726A>G	c.(724-726)ATA>ATG	p.I242M	SERBP1_uc001ddx.2_Missense_Mutation_p.I236M|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	242					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						AATTATAAGATATTTGTTTCT	0.363		NA											21	46					0	0	0	0
AMY2B	280	broad.mit.edu	37	1	104115755	104115755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:104115755C>T	uc001duq.2	+	5	1002	c.386C>T	c.(385-387)ACC>ATC	p.T129I	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.T129I|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	129					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAAGCAGTACCTGTGGAAGT	0.403		NA											117	411					0	0	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	rs141328314		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:120050217G>A	uc001ehv.1	+	2	263	c.118G>A	c.(118-120)GGA>AGA	p.G40R	HSD3B1_uc001ehw.2_Missense_Mutation_p.G42R	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	40					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CAAGGCCTTCGGACCAGAATT	0.507		NA											23	71					0	0	0	0
ARNT	405	broad.mit.edu	37	1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:150795676T>C	uc001evr.1	-	14	1531	c.1388A>G	c.(1387-1389)AAT>AGT	p.N463S	ARNT_uc001evs.1_Missense_Mutation_p.N448S|ARNT_uc009wmb.1_Missense_Mutation_p.N449S|ARNT_uc009wmc.1_Missense_Mutation_p.N463S|ARNT_uc009wmd.1_Missense_Mutation_p.N448S|ARNT_uc009wme.1_Intron|ARNT_uc010pcl.1_Missense_Mutation_p.N447S	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.279		NA	T	ETV6	AML								4	52					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152279921	152279921	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:152279921A>G	uc001ezu.1	-	3	7477	c.7441T>C	c.(7441-7443)TTG>CTG	p.L2481L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2481	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)			CTATCTACCAATTGCTCGTAG	0.567		NA							Ichthyosis				5	534					0	0	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:155887399T>G	uc001fmi.1	-	11	1355	c.1331A>C	c.(1330-1332)CAG>CCG	p.Q444P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q301P|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	444	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.443		NA											4	13					0	0	0	0
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:156874633C>T	uc001fqj.1	+	3	311	c.195C>T	c.(193-195)TGC>TGT	p.C65C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657		NA											12	54					0	0	0	0
LGR6	59352	broad.mit.edu	37	1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:202249913T>G	uc001gxu.2	+	6	649	c.649T>G	c.(649-651)TTG>GTG	p.L217V	LGR6_uc001gxv.2_Missense_Mutation_p.L165V|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	217	LRR 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GTGCAGGCATTTGCATAACAA	0.562		NA											30	64					0	0	0	0
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:211534067T>C	uc001hih.2	+	6	627	c.567T>C	c.(565-567)CCT>CCC	p.P189P	TRAF5_uc001hii.2_Silent_p.P189P|TRAF5_uc010psx.1_Silent_p.P200P|TRAF5_uc010psy.1_Intron|TRAF5_uc001hij.2_Silent_p.P189P	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189	TRAF-type 2.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373		NA											3	40					0	0	0	0
ZNF124	7678	broad.mit.edu	37	1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:247320151C>G	uc001ick.2	-	4	912	c.773G>C	c.(772-774)GGT>GCT	p.G258A	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.G196A	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438		NA											32	68					0	0	0	0
OR52E2	119678	broad.mit.edu	37	11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5080067C>T	uc010qyw.1	-	1	791	c.791G>A	c.(790-792)TGC>TAC	p.C264Y		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCGGCCAAAGCGATGAGTCAT	0.473		NA											6	75					0	0	0	0
OR51B2	79345	broad.mit.edu	37	11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5345445G>A	uc001mao.1	-	1	138	c.83C>T	c.(82-84)CCC>CTC	p.P28L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502		NA									OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	37					0	0	0	0
OR52N1	79473	broad.mit.edu	37	11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5809698G>C	uc010qzo.1	-	1	349	c.349C>G	c.(349-351)CTC>GTC	p.L117V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498		NA											22	77					0	0	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:18158957G>A	uc001mnu.2	+	3	569	c.208G>A	c.(208-210)GCG>ACG	p.A70T		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAACCTGGTCGCGGCCGACTT	0.567		NA											44	76					0	0	0	0
SPRYD5	84767	broad.mit.edu	37	11	55653151	55653151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:55653151C>T	uc010rip.1	+	2	339	c.247C>T	c.(247-249)CGG>TGG	p.R83W	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	83						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				AGCCAGCCTCCGGCAATTCCT	0.483		NA											7	14					0	0	0	0
MPZL3	196264	broad.mit.edu	37	11	118107898	118107898	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:118107898T>C	uc001psm.2	-	3	320	c.318A>G	c.(316-318)GTA>GTG	p.V106V	MPZL3_uc010rxy.1_Silent_p.V94V|MPZL3_uc010rxz.1_Intron|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	106	Ig-like V-type.				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428		NA											61	71					0	0	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:43777690G>A	uc010skx.1	-	30	4543	c.4543C>T	c.(4543-4545)CAG>TAG	p.Q1515*		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507		NA											22	64					0	0	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53460181C>T	uc001sbt.1	-	10	1132	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)	1						tcttccccttcctGGTGCAGG	0.428		NA									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	0	0
SOAT2	8435	broad.mit.edu	37	12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53509227C>T	uc001sbv.2	+	6	585	c.497C>T	c.(496-498)GCG>GTG	p.A166V	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	166	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						CTGCCATTGGCGCTGGTGACC	0.612		NA											14	29					0	0	0	0
IL26	55801	broad.mit.edu	37	12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:68595690T>G	uc001stx.1	-	5	486	c.451A>C	c.(451-453)AAA>CAA	p.K151Q		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	151					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274		NA											9	37					0	0	0	0
DCN	1634	broad.mit.edu	37	12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:91550936C>G	uc001tbs.2	-	4	662	c.568G>C	c.(568-570)GGA>CGA	p.G190R	DCN_uc001tbo.2_Missense_Mutation_p.G81R|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.G190R|DCN_uc001tbu.2_Missense_Mutation_p.G190R	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	190	LRR 6.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TTTTCAATTCCTGAGCTCTTC	0.413		NA											9	96					0	0	0	0
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:95645720C>A	uc001tdz.2	+	2	146	c.41C>A	c.(40-42)TCT>TAT	p.S14Y	VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.S14Y|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'UTR|VEZT_uc009zta.1_5'UTR	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						TTTCAGAATTCTCCACTTTAC	0.363		NA											19	58					1.02e-10	2.14e-10	1	0
GAS2L3	283431	broad.mit.edu	37	12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:101018469C>T	uc001thu.2	+	10	2112	c.1886C>T	c.(1885-1887)CCG>CTG	p.P629L	GAS2L3_uc009zty.2_Missense_Mutation_p.P629L|GAS2L3_uc001thv.2_Missense_Mutation_p.P525L	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					cell cycle arrest					skin(1)	1						CAAACTGCACCGAAGTCAGCA	0.527		NA											20	56					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:112165809C>G	uc001tsq.2	+	9	1305	c.1105C>G	c.(1105-1107)CTC>GTC	p.L369V	ACAD10_uc001tsp.2_Missense_Mutation_p.L369V|ACAD10_uc009zvx.2_Missense_Mutation_p.L400V|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	369							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTGCCCAGGTCTCATCTACAA	0.522		NA											45	141					0	0	0	0
RPH3A	22895	broad.mit.edu	37	12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:113307745G>A	uc010syl.1	+	10	1059	c.697G>A	c.(697-699)GTG>ATG	p.V233M	RPH3A_uc001ttz.2_Missense_Mutation_p.V233M|RPH3A_uc001tty.2_Missense_Mutation_p.V229M|RPH3A_uc009zwe.1_Missense_Mutation_p.V229M|RPH3A_uc010sym.1_Missense_Mutation_p.V184M|RPH3A_uc001tua.2_Translation_Start_Site	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	233	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612		NA											24	63					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:124416356G>T	uc001uft.3	+	74	12761	c.12736G>T	c.(12736-12738)GTG>TTG	p.V4246L	DNAH10_uc001ufu.3_Missense_Mutation_p.V159L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246	Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACAAGCTTGTGGTCCGGAT	0.542		NA											33	84					7.73e-29	1.66e-28	1	0
DACT1	51339	broad.mit.edu	37	14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:59112758G>A	uc001xdw.2	+	4	1581	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	DACT1_uc010trv.1_Missense_Mutation_p.E192K|DACT1_uc001xdx.2_Missense_Mutation_p.E436K|DACT1_uc010trw.1_Missense_Mutation_p.E192K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	473					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGGGACAGGGGAGTCCCCTAA	0.612		NA											26	68					0	0	0	0
PTGR2	145482	broad.mit.edu	37	14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:74327274C>T	uc001xow.2	+	3	230	c.70C>T	c.(70-72)CGA>TGA	p.R24*	PTGR2_uc010tue.1_Nonsense_Mutation_p.R24*|PTGR2_uc001xox.2_Nonsense_Mutation_p.R24*|ZNF410_uc001xoy.1_RNA	NM_001146154	NP_001139626	Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding				0						AGAGAATTTCCGAATGGAAGA	0.284		NA											22	38					0	0	0	0
TECPR2	9895	broad.mit.edu	37	14	102874944	102874944	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:102874944G>C	uc001ylw.1	+	4	616	c.468G>C	c.(466-468)CTG>CTC	p.L156L	TECPR2_uc010txw.1_Silent_p.L156L|TECPR2_uc010awl.2_Silent_p.L156L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156	WD 2.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						ATTCTTCTCTGGATCTAGACC	0.338		NA											19	48					0	0	0	0
LTK	4058	broad.mit.edu	37	15	41797503	41797503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:41797503C>T	uc001zoa.3	-	15	2006	c.1828G>A	c.(1828-1830)GGC>AGC	p.G610S	LTK_uc001zob.3_Missense_Mutation_p.G549S|LTK_uc010ucx.1_Missense_Mutation_p.G480S|LTK_uc010bcg.2_Missense_Mutation_p.G308S	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	610	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597		NA								TSP Lung(18;0.14)			5	44					0	0	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771407	90771407	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:90771407A>T	uc002boy.2	+	15	2329	c.2046A>T	c.(2044-2046)CAA>CAT	p.Q682H	SEMA4B_uc002boz.2_Missense_Mutation_p.Q682H|SEMA4B_uc010uqd.1_Missense_Mutation_p.Q520H|SEMA4B_uc002bpa.2_Missense_Mutation_p.Q520H|SEMA4B_uc010bnv.1_Missense_Mutation_p.Q320H	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607		NA											5	17					0	0	0	0
CIITA	4261	broad.mit.edu	37	16	11016081	11016081	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:11016081G>A	uc002dai.3	+	17	3340	c.3207G>A	c.(3205-3207)CCG>CCA	p.P1069P	CIITA_uc002daj.3_Silent_p.P1070P|CIITA_uc002dak.3_Silent_p.P485P	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1069					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GTGTGCTTCCGGACATGGTGT	0.627		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								36	138					0	0	0	0
NOL3	8996	broad.mit.edu	37	16	67208838	67208838	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:67208838G>A	uc010vjd.1	+	3	793	c.786G>A	c.(784-786)ACG>ACA	p.T262T	NOL3_uc010vjc.1_Missense_Mutation_p.E266K|NOL3_uc002erp.2_Missense_Mutation_p.E204K			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	200					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.363		NA											22	36					0	0	0	0
CHST4	10164	broad.mit.edu	37	16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:71571103G>C	uc002fan.2	+	2	704	c.523G>C	c.(523-525)GTG>CTG	p.V175L	CHST4_uc002fao.2_Missense_Mutation_p.V175L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	175	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						CAGCCACGTGGTGCTCAAGGA	0.617		NA											3	68					0	0	0	0
CHST6	4166	broad.mit.edu	37	16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:75513153C>T	uc002fef.2	-	3	754	c.574G>A	c.(574-576)GCG>ACG	p.A192T	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A192T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	192	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGGTTGAGCGCGGGGTCGCTG	0.692		NA											13	49					0	0	0	0
CDYL2	124359	broad.mit.edu	37	16	80718469	80718469	+	Silent	SNP	G	G	A	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:80718469G>A	uc002ffs.2	-	2	687	c.582C>T	c.(580-582)GAC>GAT	p.D194D		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CGTGATTCACGTCACATTCAC	0.527		NA											15	59					0	0	0	0
MYH2	4620	broad.mit.edu	37	17	10440764	10440764	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:10440764G>C	uc010coi.2	-	16	1811	c.1683C>G	c.(1681-1683)GGC>GGG	p.G561G	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.G561G|MYH2_uc010coj.2_Silent_p.G561G	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	561	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TGGCAGACTTGCCCAGGTGCT	0.517		NA											7	127					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:41228515C>T	uc002icq.2	-	13	4706	c.4474G>A	c.(4474-4476)GGA>AGA	p.G1492R	BRCA1_uc010whp.1_Missense_Mutation_p.G341R|BRCA1_uc010whl.1_Missense_Mutation_p.G388R|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.G1421R|BRCA1_uc002icu.2_Missense_Mutation_p.G388R|BRCA1_uc010cyx.2_Missense_Mutation_p.G1445R|BRCA1_uc002ict.2_Missense_Mutation_p.G1513R|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.G221R|BRCA1_uc002idc.1_Missense_Mutation_p.G388R|BRCA1_uc010whr.1_Missense_Mutation_p.G342R	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1492					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			17	49					0	0	0	0
BCAS3	54828	broad.mit.edu	37	17	59115269	59115269	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:59115269A>G	uc002iyv.3	+	19	1936	c.1827A>G	c.(1825-1827)GTA>GTG	p.V609V	BCAS3_uc010wow.1_Silent_p.V381V|BCAS3_uc002iyu.3_Silent_p.V594V|BCAS3_uc002iyw.3_Silent_p.V590V|BCAS3_uc002iyy.3_Silent_p.V365V|BCAS3_uc002iyz.3_Silent_p.V163V|BCAS3_uc002iza.3_Silent_p.V148V	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	609						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428		NA											4	267					0	0	0	0
DCAF7	10238	broad.mit.edu	37	17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:61661062G>A	uc002jbc.2	+	6	944	c.727G>A	c.(727-729)GAT>AAT	p.D243N	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	243					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						CATGGCCATGGATGGAATGGA	0.488		NA											13	38					0	0	0	0
KIF19	124602	broad.mit.edu	37	17	72341019	72341019	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:72341019C>T	uc002jkm.3	+	7	840	c.702C>T	c.(700-702)GTC>GTT	p.V234V	KIF19_uc002jkj.2_Silent_p.V234V|KIF19_uc002jkk.2_Silent_p.V192V|KIF19_uc002jkl.2_Silent_p.V192V	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GCAGCCGGGTCAAGAACATCT	0.697		NA											10	26					0	0	0	0
SMAD4	4089	broad.mit.edu	37	18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr18:48603080C>T	uc010xdp.1	+	11	1919	c.1381C>T	c.(1381-1383)CAG>TAG	p.Q461*	SMAD4_uc002lfb.3_Nonsense_Mutation_p.Q306*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	461	Poly-Ala.|MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468		NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				12	23					0	0	0	0
DOT1L	84444	broad.mit.edu	37	19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:2214510C>T	uc002lvb.3	+	19	1874	c.1838C>T	c.(1837-1839)ACG>ATG	p.T613M	DOT1L_uc002lvc.1_Translation_Start_Site|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	613						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		GACTGGGCCACGCTGTCGCTG	0.647		NA											14	25					0	0	0	0
ANO8	57719	broad.mit.edu	37	19	17436103	17436103	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:17436103G>A	uc002ngf.2	-	17	2913	c.2754C>T	c.(2752-2754)GCC>GCT	p.A918A	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	918	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GCTCCCGCCGGGCATGGTGCT	0.697		NA											15	32					0	0	0	0
ZNF708	7562	broad.mit.edu	37	19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:21476934T>G	uc002npq.1	-	4	1032	c.834A>C	c.(832-834)AAA>AAC	p.K278N	ZNF708_uc002npr.1_Missense_Mutation_p.K214N|ZNF708_uc010ecs.1_Missense_Mutation_p.K214N	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						ATTTGTAGGGTTTCTCTCCAG	0.373		NA											23	54					0	0	0	0
ZNF224	7767	broad.mit.edu	37	19	44610697	44610697	+	Silent	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:44610697T>A	uc002oyh.1	+	6	686	c.384T>A	c.(382-384)GGT>GGA	p.G128G	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433		NA											10	63					0	0	0	0
LILRB1	10859	broad.mit.edu	37	19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:55144664C>T	uc002qgj.2	+	8	1496	c.1156C>T	c.(1156-1158)CCT>TCT	p.P386S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P386S|LILRB1_uc002qgk.2_Missense_Mutation_p.P386S|LILRB1_uc002qgm.2_Missense_Mutation_p.P386S|LILRB1_uc010erq.2_Missense_Mutation_p.P386S|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	386	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567		NA								HNSCC(37;0.09)			32	105					0	0	0	0
NCOA1	8648	broad.mit.edu	37	2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:24929972A>G	uc002rfk.2	+	11	1891	c.1633A>G	c.(1633-1635)AAT>GAT	p.N545D	NCOA1_uc010eye.2_Missense_Mutation_p.N545D|NCOA1_uc002rfi.2_Missense_Mutation_p.N394D|NCOA1_uc002rfj.2_Missense_Mutation_p.N545D|NCOA1_uc002rfl.2_Missense_Mutation_p.N545D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	545	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423		NA	T	PAX3	alveolar rhadomyosarcoma								9	38					0	0	0	0
FIGN	55137	broad.mit.edu	37	2	164466120	164466120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:164466120G>A	uc002uck.1	-	3	2533	c.2222C>T	c.(2221-2223)TCT>TTT	p.S741F		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	741						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						CTCCTTTTGAGATATGCTAGG	0.393		NA											42	64					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:179595727C>T	uc010zfg.1	-	57	14157	c.13933G>A	c.(13933-13935)GAT>AAT	p.D4645N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1306N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCACTATCTTTCTTTTCT	0.378		NA											87	179					0	0	0	0
HDAC4	9759	broad.mit.edu	37	2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:239988450C>A	uc002vyk.3	-	24	3748	c.2956G>T	c.(2956-2958)GAA>TAA	p.E986*	HDAC4_uc010fyy.2_Nonsense_Mutation_p.E943*	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642		NA											32	45					6.01e-18	1.28e-17	1	0
RIMS4	140730	broad.mit.edu	37	20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43386376T>A	uc002xms.2	-	4	386	c.386A>T	c.(385-387)CAG>CTG	p.Q129L	RIMS4_uc010ggu.2_Missense_Mutation_p.Q130L	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592		NA											73	68					0	0	0	0
RBPJL	11317	broad.mit.edu	37	20	43945404	43945404	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43945404C>A	uc002xns.2	+	12	1431	c.1359C>A	c.(1357-1359)ATC>ATA	p.I453I	RBPJL_uc002xnt.2_Missense_Mutation_p.H457N	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	453	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697		NA											30	39					2.37e-06	4.88e-06	1	0
SLC17A9	63910	broad.mit.edu	37	20	61598792	61598792	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:61598792C>A	uc002yea.3	+	13	1435	c.1251C>A	c.(1249-1251)ACC>ACA	p.T417T	SLC17A9_uc002ydz.3_Silent_p.T411T|SLC17A9_uc011aap.1_3'UTR	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	417	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						GGCTGTGCACCTTCCTGGTGT	0.607		NA											50	152					4.01e-20	8.59e-20	1	0
DONSON	29980	broad.mit.edu	37	21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:34958441C>T	uc002ysk.2	-	3	516	c.449G>A	c.(448-450)AGT>AAT	p.S150N	DONSON_uc002ysn.1_Missense_Mutation_p.S33N|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_Intron|DONSON_uc010gme.2_Missense_Mutation_p.S123N|DONSON_uc002ysm.2_Missense_Mutation_p.S150N	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						TAACTCAGTACTTTTTGAGGA	0.398		NA									OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	39					0	0	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:47660924T>C	uc002zir.1	-	26	5470	c.5434A>G	c.(5434-5436)ATA>GTA	p.I1812V	MCM3APAS_uc002zim.2_RNA|MCM3APAS_uc002zin.2_Silent_p.Y115Y|MCM3AP_uc002zio.1_Missense_Mutation_p.I307V|MCM3AP_uc002zip.1_Missense_Mutation_p.I553V|MCM3AP_uc002ziq.1_Missense_Mutation_p.I739V|MCM3APAS_uc002zis.1_RNA	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1812					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388		NA											46	86					0	0	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:38347632C>T	uc010hhc.1	+	2	157	c.115C>T	c.(115-117)CGC>TGC	p.R39C	SLC22A14_uc003cia.2_Missense_Mutation_p.R39C|SLC22A14_uc003cib.2_Missense_Mutation_p.R39C|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	39	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537		NA											10	80					0	0	0	0
XCR1	2829	broad.mit.edu	37	3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:46062445A>G	uc003cpe.2	-	3	1219	c.995T>C	c.(994-996)TTC>TCC	p.F332S	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.F332S	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	332	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642		NA											12	5					0	0	0	0
HTR1F	3355	broad.mit.edu	37	3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:88040372C>T	uc003dqr.2	+	2	631	c.473C>T	c.(472-474)CCT>CTT	p.P158L		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	158	Helical; Name=4; (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)	TCTATGCCTCCTCTATTCTGG	0.408		NA											23	23					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:109028057C>T	uc003dxo.2	-	4	549	c.302G>A	c.(301-303)CGG>CAG	p.R101Q		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						ACACCAGTCCCGCAAAGTGTC	0.453		NA											42	182					0	0	0	0
BTLA	151888	broad.mit.edu	37	3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:112198458C>A	uc003dza.3	-	2	450	c.247G>T	c.(247-249)GAA>TAA	p.E83*	BTLA_uc003dzb.3_Nonsense_Mutation_p.E83*	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	83	Ig-like V-type.|Extracellular (Potential).				T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408		NA											21	96					1.5e-11	3.16e-11	1	0
STXBP5L	9515	broad.mit.edu	37	3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:120998716A>G	uc003eec.3	+	19	2163	c.2023A>G	c.(2023-2025)AGC>GGC	p.S675G	STXBP5L_uc011bji.1_Missense_Mutation_p.S675G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675	WD 10.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398		NA											27	46					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129324754	129324754	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:129324754C>T	uc003emx.2	-	1	829	c.729G>A	c.(727-729)CTG>CTA	p.L243L		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	243	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CGCGCGTGTCCAGGGAGCGGA	0.647		NA											12	18					0	0	0	0
CPNE4	131034	broad.mit.edu	37	3	131254048	131254048	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:131254048T>C	uc003eok.2	-	16	2100	c.1665A>G	c.(1663-1665)CTA>CTG	p.L555L	CPNE4_uc011blq.1_Silent_p.L573L|CPNE4_uc003eol.2_Silent_p.L573L|CPNE4_uc003eom.2_Silent_p.L555L|CPNE4_uc003eoj.2_Silent_p.L106L	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	555										upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTCATGGTGCTAGTGTTCTGG	0.368		NA											16	47					0	0	0	0
PHF17	79960	broad.mit.edu	37	4	129776938	129776938	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:129776938C>T	uc003igk.2	+	7	1130	c.850C>T	c.(850-852)CTG>TTG	p.L284L	PHF17_uc003igj.2_Silent_p.L284L|PHF17_uc003igl.2_Silent_p.L272L|PHF17_uc011cgy.1_Silent_p.L284L|PHF17_uc003igm.2_Silent_p.L284L	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	284					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						TAGCTGTGCTCTGTGGATCCC	0.363		NA											8	32					0	0	0	0
NAA15	80155	broad.mit.edu	37	4	140265372	140265372	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:140265372T>C	uc003ihu.1	+	6	826	c.570T>C	c.(568-570)AGT>AGC	p.S190S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	190					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						ATGAATATAGTGAACTACTCT	0.333		NA											3	43					0	0	0	0
SMAD1	4086	broad.mit.edu	37	4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:146435852G>A	uc003ikc.2	+	2	503	c.87G>A	c.(85-87)TGG>TGA	p.W29*	SMAD1_uc003ikd.2_Nonsense_Mutation_p.W29*|SMAD1_uc010iov.2_Nonsense_Mutation_p.W29*|SMAD1_uc011cic.1_Nonsense_Mutation_p.W29*	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	29	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443		NA											4	49					0	0	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:156634710A>T	uc003iov.2	+	8	2083	c.1547A>T	c.(1546-1548)CAG>CTG	p.Q516L	GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q516L|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q516L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q515L|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q516L|GUCY1A3_uc003ioz.2_Missense_Mutation_p.Q281L|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q516L|GUCY1A3_uc010iqe.2_Missense_Mutation_p.Q281L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q516L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	516	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522		NA											6	37					0	0	0	0
CBR4	84869	broad.mit.edu	37	4	169927998	169928000	+	Missense_Mutation	TNP	TGA	TGA	CTT			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927998_169928000TGA>CTT	uc003iry.2	-	3	488_490	c.306_308TCA>AAG	c.(304-309)TCTCAG>TCAAGG	p.Q103R	CBR4_uc011cjy.1_RNA|CBR4_uc003irz.1_Missense_Mutation_p.Q103R	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	carbonic reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding				0		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCATAT	0.369		NA											6	151					0	0	0	0
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:174254247T>C	uc011ckc.1	-	2	389	c.269A>G	c.(268-270)AAG>AGG	p.K90R	HMGB2_uc003ita.3_Missense_Mutation_p.K90R|HMGB2_uc003itb.2_Missense_Mutation_p.K90R|HMGB2_uc003itc.2_Missense_Mutation_p.K90R	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	90					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398		NA											3	166					0	0	0	0
FBXO8	26269	broad.mit.edu	37	4	175162340	175162340	+	Silent	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:175162340G>T	uc003itp.2	-	4	1336	c.486C>A	c.(484-486)ATC>ATA	p.I162I	FBXO8_uc003itq.2_Silent_p.I121I	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	162	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323		NA											17	37					6.5e-13	1.37e-12	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:140181071G>C	uc003lhf.2	+	1	289	c.289G>C	c.(289-291)GGG>CGG	p.G97R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	97	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557		NA											7	261					0	0	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:140256564G>A	uc003lic.2	+	1	1634	c.1507G>A	c.(1507-1509)GCA>ACA	p.A503T	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_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A503T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677		NA											8	87					0	0	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810824	169810824	+	Silent	SNP	C	C	A	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:169810824C>A	uc003maq.1	-	3	565	c.165G>T	c.(163-165)CTG>CTT	p.L55L	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Silent_p.L55L	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	55	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTCTCAATCAGGTGGCACT	0.567		NA											8	16					5.18e-06	1.06e-05	1	0
HUS1B	135458	broad.mit.edu	37	6	656505	656505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:656505G>A	uc003mtg.2	-	1	460	c.440C>T	c.(439-441)CCG>CTG	p.P147L	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	147											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716		NA											22	40					0	0	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917064	32917064	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:32917064C>T	uc003ocm.2	-	4	851	c.765G>A	c.(763-765)CGG>CGA	p.R255R		NM_006120	NP_006111	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM	255						integral to membrane|MHC class II protein complex					0						AGCAAGGCTTCCGGAAGTAGA	0.567		NA											20	44					0	0	0	0
NCR2	9436	broad.mit.edu	37	6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:41309847G>A	uc003oqh.2	+	4	691	c.604G>A	c.(604-606)GTA>ATA	p.V202I	NCR2_uc003oqi.2_Missense_Mutation_p.V214I|NCR2_uc003oqj.2_Missense_Mutation_p.V202I	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202	Helical; (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622		NA											41	93					0	0	0	0
ZNF318	24149	broad.mit.edu	37	6	43305058	43305058	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:43305058A>G	uc003oux.2	-	10	6756	c.6678T>C	c.(6676-6678)GAT>GAC	p.D2226D	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493		NA											16	37					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:117237221C>A	uc003pxm.2	+	8	894	c.831C>A	c.(829-831)GAC>GAA	p.D277E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						GTATCCTGGACAATGCAATTA	0.343		NA											13	52					5.51e-06	1.12e-05	1	0
T	6862	broad.mit.edu	37	6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:166571825G>T	uc003quu.1	-	9	1779	c.1286C>A	c.(1285-1287)CCT>CAT	p.P429H	T_uc003qut.1_Missense_Mutation_p.P430H|T_uc003quv.1_Missense_Mutation_p.P371H	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	429					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612		NA							Chordoma_Familial_Clustering_of				14	158					1.05e-09	2.2e-09	1	0
DDC	1644	broad.mit.edu	37	7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:50605594C>G	uc003tpf.3	-	4	485	c.399G>C	c.(397-399)TTG>TTC	p.L133F	DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.L133F	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	133	2.|2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CTTTCTCATTCAAAAATGCCT	0.572		NA											22	64					0	0	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:88963629C>G	uc011khi.1	+	4	1871	c.1333C>G	c.(1333-1335)CAC>GAC	p.H445D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398		NA								HNSCC(36;0.09)			3	59					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677784	100677784	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:100677784T>C	uc003uxp.1	+	3	3140	c.3087T>C	c.(3085-3087)GGT>GGC	p.G1029G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1029	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					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)					CTGCTGAAGGTACCAGCATGC	0.502		NA											178	464					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100683020	100683020	+	Missense_Mutation	SNP	G	G	C	rs150509322	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:100683020G>C	uc003uxp.1	+	3	8376	c.8323G>C	c.(8323-8325)GCT>CCT	p.A2775P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2775	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					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)					TTCAACAACTGCTGTTGACAC	0.488		NA											4	514					0	0	0	0
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:142569486C>T	uc003wbx.1	-	15	2368	c.2152G>A	c.(2152-2154)GGG>AGG	p.G718R	TRPV6_uc003wbw.1_Missense_Mutation_p.G504R|TRPV6_uc010lou.1_Missense_Mutation_p.G589R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	718	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527		NA											26	76					0	0	0	0
WDR60	55112	broad.mit.edu	37	7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:158695196A>T	uc003woe.3	+	10	1425	c.1267A>T	c.(1267-1269)ATT>TTT	p.I423F	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423	Potential.									ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368		NA											19	67					0	0	0	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NA											10	30					0	0	0	0
DMRT3	58524	broad.mit.edu	37	9	990054	990054	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:990054A>G	uc003zgw.1	+	2	506	c.468A>G	c.(466-468)GAA>GAG	p.E156E		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	156					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478		NA											10	79					0	0	0	0
IFNA13	3447	broad.mit.edu	37	9	21367983	21367983	+	Silent	SNP	C	C	T	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:21367983C>T	uc003zpa.2	-	1	93	c.27G>A	c.(25-27)CTG>CTA	p.L9L		NM_006900	NP_008831	P01562	IFNA1_HUMAN	interferon, alpha 13 precursor	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547		NA											78	49					0	0	0	0
CEP110	11064	broad.mit.edu	37	9	123904513	123904513	+	Silent	SNP	A	A	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:123904513A>C	uc004bkx.1	+	17	2867	c.2836A>C	c.(2836-2838)AGA>CGA	p.R946R	CEP110_uc004bky.1_Silent_p.R550R|CEP110_uc004bla.1_Silent_p.R394R|CEP110_uc010mvo.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	946	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						AGAGAAGGAGAGAATTCTGGC	0.438		NA											8	28					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:131233667C>T	uc011mbd.1	+	6	812	c.501C>T	c.(499-501)CAC>CAT	p.H167H	ODF2_uc011maz.1_Silent_p.H167H|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Silent_p.H143H|ODF2_uc011mbb.1_Silent_p.H101H|ODF2_uc011mbc.1_Silent_p.H86H|ODF2_uc004bva.2_Silent_p.H120H|ODF2_uc004bvb.2_Silent_p.H143H|ODF2_uc011mbe.1_Silent_p.H162H|ODF2_uc004bvc.2_Silent_p.H143H|ODF2_uc010myc.2_Silent_p.H110H|ODF2_uc011mbf.1_Silent_p.H148H|ODF2_uc004bvd.3_Silent_p.H167H|ODF2_uc004bve.2_Silent_p.H148H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	167	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AGGTGGCCCACGAACTGGCTG	0.577		NA											32	41					0	0	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809058	15809058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:15809058C>A	uc004cxg.3	+	2	88	c.43C>A	c.(43-45)CAC>AAC	p.H15N		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	15					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)					ATCTTCCAGCCACAAAAAGTA	0.512		NA											12	18					3.07e-06	6.31e-06	1	0
RGAG4	340526	broad.mit.edu	37	X	71350448	71350448	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:71350448T>C	uc010nlh.1	-	1	1304	c.943A>G	c.(943-945)AAG>GAG	p.K315E	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315								p.R315H(1)		ovary(2)|skin(1)	3	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468		NA											3	87					0	0	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935540	151935540	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:151935540G>A	uc004fgp.2	-	3	836	c.627C>T	c.(625-627)ATC>ATT	p.I209I		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562		NA											13	169					0	0	0	0
TSPAN14	81619	broad.mit.edu	37	10	82249069	82249069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr10:82249069delG	uc001kcj.3	+	2	187	c.80delG	c.(79-81)TGGfs	p.W27fs	TSPAN14_uc009xss.2_Frame_Shift_Del_p.W27fs|TSPAN14_uc001kci.3_Frame_Shift_Del_p.W27fs	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	27	Helical; (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.308		NA											2	4	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-	rs1800899	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7576840_7576851delCAAGACTTAGTA	uc002gim.2	-	9	1187	c.993_splice	c.e9+1	p.Q331_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.Q331_splice|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site_p.Q199_splice|TP53_uc010cng.1_Splice_Site_p.Q199_splice|TP53_uc002gii.1_Splice_Site_p.Q199_splice|TP53_uc010cnh.1_Splice_Site_p.Q331_splice|TP53_uc010cni.1_Splice_Site_p.Q331_splice|TP53_uc002gij.2_Splice_Site_p.Q331_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.?(10)|p.0?(7)|p.I332fs*49(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)		TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	40	---	---	---	---	NA	NA	NA	NA
PAF1	54623	broad.mit.edu	37	19	39876966	39876966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:39876966delC	uc002old.2	-	14	1436	c.1261delG	c.(1261-1263)GAGfs	p.E421fs	PAF1_uc002ole.1_Intron	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	421	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602		NA											35	239	---	---	---	---	NA	NA	NA	NA
NAPA	8775	broad.mit.edu	37	19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:47996389_47996390insG	uc002pha.1	-	6	762_763	c.462_463insC	c.(460-465)GGCGAGfs	p.G154fs	uc002pgz.1_Intron|NAPA_uc002phb.1_Frame_Shift_Ins_p.G115fs|NAPA_uc002phc.1_Frame_Shift_Ins_p.G41fs|NAPA_uc002phd.1_Frame_Shift_Ins_p.G154fs|NAPA_uc010elf.1_Frame_Shift_Ins_p.A24fs	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	154_155					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649		NA											20	45	---	---	---	---	NA	NA	NA	NA
DDX27	55661	broad.mit.edu	37	20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:47855521_47855530delATGGAGAAAG	uc002xuh.2	+	15	1877_1886	c.1816_1825delATGGAGAAAG	c.(1816-1827)ATGGAGAAAGATfs	p.M606fs		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	606_609						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.405		NA											14	45	---	---	---	---	NA	NA	NA	NA
PLD1	5337	broad.mit.edu	37	3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:171379875delT	uc003fhs.2	-	20	2431	c.2315delA	c.(2314-2316)AACfs	p.N772fs	PLD1_uc003fht.2_Frame_Shift_Del_p.N734fs|PLD1_uc003fhu.3_Frame_Shift_Del_p.N66fs|PLD1_uc003fhv.1_Frame_Shift_Del_p.N97fs	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	772	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458		NA											16	77	---	---	---	---	NA	NA	NA	NA
ABCF1	23	broad.mit.edu	37	6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:30551996_30551997insC	uc003nql.2	+	13	1225_1226	c.1130_1131insC	c.(1129-1131)GTCfs	p.V377fs	ABCF1_uc003nqk.2_Frame_Shift_Ins_p.V378fs|ABCF1_uc003nqm.2_Frame_Shift_Ins_p.V339fs|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	377	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						ACACCAGCAGTCCAGGCTGTTC	0.55		NA											17	52	---	---	---	---	NA	NA	NA	NA
SYNJ2	8871	broad.mit.edu	37	6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:158517350delA	uc003qqx.1	+	27	4520	c.4445delA	c.(4444-4446)GAAfs	p.E1482fs	SYNJ2_uc003qqy.1_Frame_Shift_Del_p.E1195fs|SYNJ2_uc003qqz.1_Frame_Shift_Del_p.E1099fs|SYNJ2_uc003qra.1_Frame_Shift_Del_p.E825fs|SYNJ2_uc010kjp.1_Frame_Shift_Del_p.E365fs	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1482	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507		NA											19	43	---	---	---	---	NA	NA	NA	NA
WBSCR17	64409	broad.mit.edu	37	7	70597919	70597920	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:70597919_70597920delCG	uc003tvy.2	+	1	131_132	c.131_132delCG	c.(130-132)CCGfs	p.P44fs		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	44	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGATCCGGCCGCGCGCCGAGG	0.678		NA											16	32	---	---	---	---	NA	NA	NA	NA