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
LOC440563	440563	broad.mit.edu	37	1	13183462	13183462	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:13183462A>G	uc010obg.1	-	1	506	c.411T>C	c.(409-411)GCT>GCC	p.A137A		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	137						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						CTACAGCCAGAGCAATGGGAG	0.502		NA											11	417					0	0	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20246801	20246801	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:20246801C>T	uc001bct.1	-	4	486	c.428G>A	c.(427-429)TGA>TAA	p.*143*		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	143					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATAGCCTCAGCAGGGCGG	0.647		NA											7	26					0	0	0	0
E2F2	1870	broad.mit.edu	37	1	23850945	23850945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:23850945C>G	uc001bhe.1	-	2	716	c.288G>C	c.(286-288)AGG>AGC	p.R96S	uc001bhf.1_5'Flank	NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	96	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGACGACGGGCCTCCCAATCC	0.572		NA											5	34					0	0	0	0
RUNX3	864	broad.mit.edu	37	1	25228965	25228965	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:25228965G>T	uc001bjq.2	-	5	1307	c.896C>A	c.(895-897)GCC>GAC	p.A299D	RUNX3_uc010oen.1_Missense_Mutation_p.A246D|RUNX3_uc009vrj.2_Missense_Mutation_p.A313D|RUNX3_uc001bjr.2_Missense_Mutation_p.A313D|RUNX3_uc001bjs.2_RNA	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	299	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCGGCTGGTGGCCGGCATGCC	0.701		NA											12	58					5.51e-06	6.82e-06	1	0
ZNF643	65243	broad.mit.edu	37	1	40928732	40928732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:40928732G>A	uc001cfn.1	+	5	1373	c.1076G>A	c.(1075-1077)GGG>GAG	p.G359E	ZNF643_uc001cfl.1_Missense_Mutation_p.G257E|ZNF643_uc001cfm.1_Missense_Mutation_p.G225E	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			ATTCATACCGGGGAAAAGCCC	0.423		NA											6	43					0	0	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507088	74507088	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507088G>T	uc001dfy.3	-	7	1719	c.1527C>A	c.(1525-1527)TCC>TCA	p.S509S	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										ovary(2)	2						AAGCCTTTTGGGATTTTTCTT	0.363		NA											7	96					2.77e-08	3.66e-08	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507545	74507545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507545G>T	uc001dfy.3	-	7	1262	c.1070C>A	c.(1069-1071)CCC>CAC	p.P357H	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	357										ovary(2)	2						AGTGTATATGGGTAGTTTGAA	0.338		NA											4	39					2.56e-06	3.19e-06	1	0
ZZZ3	26009	broad.mit.edu	37	1	78098771	78098771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:78098771G>A	uc001dhq.2	-	5	745	c.269C>T	c.(268-270)TCT>TTT	p.S90F	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.S90F|ZZZ3_uc001dhp.2_Missense_Mutation_p.S90F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						CTTTTCTGAAGAAGAAAGTCC	0.383		NA											17	157					0	0	0	0
ELTD1	64123	broad.mit.edu	37	1	79470764	79470764	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:79470764T>A	uc001diq.3	-	2	319	c.163A>T	c.(163-165)ATT>TTT	p.I55F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	55	Extracellular (Potential).|EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTTCACAAATTGTGACACCA	0.373		NA											7	76					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86289270	86289270	+	Silent	SNP	G	G	T	rs143522499	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:86289270G>T	uc001dlj.2	-	45	3780	c.3738C>A	c.(3736-3738)GGC>GGA	p.G1246G	COL24A1_uc001dli.2_Silent_p.G382G|COL24A1_uc010osd.1_Silent_p.G546G|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1246	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTGGTTCGCCCTTTAGTA	0.318		NA											5	56					0.000602214	0.000685833	1	0
KCNA3	3738	broad.mit.edu	37	1	111217039	111217039	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:111217039G>T	uc001dzv.1	-	1	617	c.393C>A	c.(391-393)GGC>GGA	p.G131G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	131						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGGGGTCGCCCAGCAGCG	0.627		NA											13	117					7.04e-09	9.43e-09	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529140	150529140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:150529140G>A	uc001eux.2	+	10	1856	c.1620G>A	c.(1618-1620)TGG>TGA	p.W540*	ADAMTSL4_uc001euw.2_Nonsense_Mutation_p.W540*|ADAMTSL4_uc009wlw.2_Nonsense_Mutation_p.W563*|ADAMTSL4_uc010pcg.1_Nonsense_Mutation_p.W563*|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	540					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGAACTGGGCTGTGGATC	0.612		NA											16	147					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152191468	152191468	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:152191468G>T	uc001ezt.1	-	3	2713	c.2637C>A	c.(2635-2637)GGC>GGA	p.G879G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	879	10				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCGCGGCCCGAAGCGT	0.622		NA											48	90					3.77e-25	5.64e-25	1	0
SPTA1	6708	broad.mit.edu	37	1	158583633	158583633	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158583633C>G	uc001fst.1	-	50	7066	c.6867G>C	c.(6865-6867)GGG>GGC	p.G2289G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2289	EF-hand 1.|1 (Potential).				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GAGTCAGGCGCCCTGTCAAAT	0.408		NA											14	29					0	0	0	0
OR6K2	81448	broad.mit.edu	37	1	158669539	158669539	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158669539T>A	uc001fsu.1	-	1	904	c.904A>T	c.(904-906)ATA>TTA	p.I302L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TGCTTTTTTATAGCTTCTTTT	0.378		NA											13	25					0	0	0	0
NMNAT2	23057	broad.mit.edu	37	1	183387391	183387391	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:183387391G>C	uc001gqc.1	-	1	347	c.12C>G	c.(10-12)ACC>ACG	p.T4T		NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	4					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			skin(1)	1						GGGTCTTGGTGGTCTCGGTCA	0.567		NA											48	93					0	0	0	0
LHX9	56956	broad.mit.edu	37	1	197898131	197898131	+	Splice_Site	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:197898131G>C	uc001guk.1	+	5	1374	c.937_splice	c.e5-1	p.V313_splice	LHX9_uc001gui.1_Splice_Site_p.V304_splice|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1						motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TTGGTTTGCAGGTTTGGTTCC	0.353		NA											20	22					0	0	0	0
CACNA1S	779	broad.mit.edu	37	1	201047133	201047133	+	Missense_Mutation	SNP	C	C	A	rs150590855	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:201047133C>A	uc001gvv.2	-	11	1720	c.1493G>T	c.(1492-1494)CGC>CTC	p.R498L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	498	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGTCGAAGCGGTTGAAGAT	0.592		NA											39	74					5.45e-19	8.01e-19	1	0
OR2L13	284521	broad.mit.edu	37	1	248262829	248262829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248262829A>G	uc001ids.2	+	3	489	c.152A>G	c.(151-153)GAT>GGT	p.D51G		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCACGTGGATCCTCGTCTC	0.502		NA											6	151					0	0	0	0
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248436759G>T	uc010pzi.1	-	1	358	c.358C>A	c.(358-360)CGC>AGC	p.R120S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592		NA											21	95					2.85e-18	4.18e-18	1	0
NRG3	10718	broad.mit.edu	37	10	84745309	84745309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:84745309C>T	uc001kco.2	+	9	2066	c.2039C>T	c.(2038-2040)GCG>GTG	p.A680V	NRG3_uc010qlz.1_Missense_Mutation_p.A679V|NRG3_uc001kcp.2_Missense_Mutation_p.A483V|NRG3_uc001kcq.2_Missense_Mutation_p.A330V|NRG3_uc001kcr.2_Missense_Mutation_p.A354V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	704	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACGAGAGGCGCAATTTGTC	0.463		NA											5	36					0	0	0	0
GRID1	2894	broad.mit.edu	37	10	87487719	87487719	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:87487719T>G	uc001kdl.1	-	10	1527	c.1426A>C	c.(1426-1428)AAG>CAG	p.K476Q	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K47Q	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	476	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CCCAGAGCCTTGGCCAGTGCA	0.532		NA								Multiple Myeloma(13;0.14)			21	148					0	0	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834702	94834702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:94834702T>A	uc001kil.2	+	3	626	c.581T>A	c.(580-582)CTG>CAG	p.L194Q	CYP26A1_uc001kik.1_Missense_Mutation_p.L125Q|CYP26A1_uc001kim.1_Missense_Mutation_p.L92Q	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	194					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CGCATCCTACTGGGCTGCGAA	0.657		NA											11	87					0	0	0	0
RBP4	5950	broad.mit.edu	37	10	95360773	95360773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:95360773A>G	uc001kit.2	-	2	97	c.13T>C	c.(13-15)TGG>CGG	p.W5R		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	5					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding				0		Colorectal(252;0.122)			Vitamin A(DB00162)	AAGAGCGCCCACACCCACTTC	0.637		NA											9	71					0	0	0	0
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:98743264C>T	uc001kmv.2	+	1	2224	c.2117C>T	c.(2116-2118)TCG>TTG	p.S706L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	706										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507		NA											12	48					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108389130	108389130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:108389130G>C	uc001kym.2	-	19	2500	c.2492C>G	c.(2491-2493)ACA>AGA	p.T831R	SORCS1_uc001kyl.2_Missense_Mutation_p.T831R|SORCS1_uc009xxs.2_Missense_Mutation_p.T831R|SORCS1_uc001kyn.1_Missense_Mutation_p.T831R|SORCS1_uc001kyo.2_Missense_Mutation_p.T831R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	831	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGATGAGTGTCCGCTGAAC	0.507		NA											5	25					0	0	0	0
TECTB	6975	broad.mit.edu	37	10	114045943	114045943	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:114045943T>A	uc001kzr.1	+	3	382	c.382T>A	c.(382-384)TTG>ATG	p.L128M		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	128	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTCCACCTACTTGGTGAACCA	0.502		NA											19	73					0	0	0	0
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	A	rs148951938		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129903439C>A	uc001lke.2	-	13	6860	c.6665G>T	c.(6664-6666)AGA>ATA	p.R2222I	MKI67_uc001lkf.2_Missense_Mutation_p.R1862I|MKI67_uc009yav.1_Missense_Mutation_p.R1797I|MKI67_uc009yaw.1_Missense_Mutation_p.R1372I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2222	16 X 122 AA approximate repeats.|11.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493		NA											46	251					1.07e-23	1.59e-23	1	0
MKI67	4288	broad.mit.edu	37	10	129906870	129906870	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129906870T>A	uc001lke.2	-	13	3429	c.3234A>T	c.(3232-3234)CCA>CCT	p.P1078P	MKI67_uc001lkf.2_Silent_p.P718P|MKI67_uc009yav.1_Silent_p.P653P|MKI67_uc009yaw.1_Silent_p.P228P	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1078	16 X 122 AA approximate repeats.|1.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACGGGCTGCTGGGTCCAGGA	0.557		NA											27	199					0	0	0	0
FRG2B	441581	broad.mit.edu	37	10	135438829	135438829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:135438829C>A	uc010qvg.1	-	4	664	c.611G>T	c.(610-612)TGT>TTT	p.C204F		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	204						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGCTGCTCACAGGTAAGTGG	0.557		NA											11	74					0.000219431	0.000256404	1	0
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:4567362G>A	uc010qyf.1	+	1	942	c.942G>A	c.(940-942)ATG>ATA	p.M314I		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	314	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403		NA											7	22					0	0	0	0
OR56A3	390083	broad.mit.edu	37	11	5968817	5968817	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:5968817G>T	uc010qzt.1	+	1	241	c.241G>T	c.(241-243)GTC>TTC	p.V81F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTGTCATCCCCAA	0.567		NA											37	135					1.6e-16	2.32e-16	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16847840	16847840	+	Silent	SNP	C	C	T	rs141499859		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:16847840C>T	uc001mmo.2	-	10	1185	c.1170G>A	c.(1168-1170)CGG>CGA	p.R390R	PLEKHA7_uc010rcu.1_Silent_p.R390R|PLEKHA7_uc001mmn.2_Silent_p.R98R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	390					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TCTTCTCTGCCCGTTGGGGCT	0.597		NA											33	75					0	0	0	0
LDHC	3948	broad.mit.edu	37	11	18451424	18451425	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451424_18451425CC>AA	uc001mon.3	+	4	497_498	c.385_386CC>AA	c.(385-387)CCT>AAT	p.P129N	LDHC_uc001mom.3_Missense_Mutation_p.P129N|LDHC_uc009yhp.2_Missense_Mutation_p.P129N|LDHC_uc001moo.3_Missense_Mutation_p.P13N|LDHC_uc009yhq.2_Intron|LDHC_uc009yhr.2_Missense_Mutation_p.P13N	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	CCATTATAGTCCTGATTGTAAA	0.391		NA											12	67					0	0	0	0
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55432837C>A	uc001nht.3	+	3	460	c.195C>A	c.(193-195)TCC>TCA	p.S65S	OR4C6_uc010rik.1_Silent_p.S65S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CCTTCTTGTCCCTTTTGGATG	0.448		NA											21	93					2.46e-09	3.33e-09	1	0
OR5L2	26338	broad.mit.edu	37	11	55595555	55595555	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55595555C>A	uc001nhy.1	+	1	861	c.861C>A	c.(859-861)CCC>CCA	p.P287P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TGCTGAACCCCCTGATCTACA	0.443		NA								HNSCC(27;0.073)			10	46					1.77e-08	2.34e-08	1	0
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55860982G>T	uc010rix.1	+	1	199	c.199G>T	c.(199-201)GCA>TCA	p.A67S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393		NA											27	136					2.66e-16	3.85e-16	1	0
SLC43A3	29015	broad.mit.edu	37	11	57175325	57175325	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:57175325G>A	uc001nkg.2	-	14	1826	c.1416C>T	c.(1414-1416)CAC>CAT	p.H472H	PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.H472H|SLC43A3_uc010rjr.1_Silent_p.H485H|SLC43A3_uc009yme.2_Silent_p.H472H|SLC43A3_uc001nki.2_Silent_p.H472H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	472	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1						CCAGAAAGGGGTGGAAGAATG	0.463		NA											18	44					0	0	0	0
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:60269478C>T	uc001npr.2	+	4	494	c.437C>T	c.(436-438)TCT>TTT	p.S146F		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	146	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGCTCTCTCTCTGTGTCAGCA	0.388		NA											19	103					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62297865	62297865	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:62297865C>A	uc001ntl.2	-	5	4324	c.4024G>T	c.(4024-4026)GAT>TAT	p.D1342Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1342					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAGGACACATCCACATCTCCC	0.478		NA											55	233					5.39e-20	7.97e-20	1	0
CFL1	1072	broad.mit.edu	37	11	65623195	65623195	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65623195G>T	uc001ofs.2	-	3	552	c.318C>A	c.(316-318)CCC>CCA	p.P106P	CFL1_uc001oft.2_Silent_p.P106P|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)	106	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)		GCGCAGACTCGGGGGCCCTGG	0.547		NA											6	33					0.00198382	0.00221492	1	0
EFEMP2	30008	broad.mit.edu	37	11	65634509	65634509	+	Silent	SNP	C	C	A	rs148302546	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65634509C>A	uc001ofy.3	-	11	1406	c.1212G>T	c.(1210-1212)CCG>CCT	p.P404P	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	404					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGCCCGTCACCGGCCGGGCGA	0.612		NA											17	62					1.16e-05	1.42e-05	1	0
RBM4	5936	broad.mit.edu	37	11	66411238	66411238	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:66411238T>C	uc009yrj.2	+	3	1218	c.730T>C	c.(730-732)TAC>CAC	p.Y244H	RBM4_uc009yrk.2_Missense_Mutation_p.Y219H|RBM4_uc001oiw.1_Missense_Mutation_p.Y244H|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.Y244H|RBM4_uc001oiz.1_Missense_Mutation_p.Y244H	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	244	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGTATAATTACGCAGAGCA	0.577		NA											19	74					0	0	0	0
C11orf82	220042	broad.mit.edu	37	11	82644765	82644765	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:82644765T>A	uc001ozt.2	+	6	2629	c.2385T>A	c.(2383-2385)CCT>CCA	p.P795P	C11orf82_uc010rsr.1_Silent_p.P494P|C11orf82_uc010rss.1_Silent_p.P494P|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	795					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						TCAAAAAACCTGTATTTTATT	0.343		NA											9	33					0	0	0	0
USP28	57646	broad.mit.edu	37	11	113683178	113683178	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:113683178C>A	uc001poh.2	-	16	1825	c.1792G>T	c.(1792-1794)GCT>TCT	p.A598S	USP28_uc001pog.2_Missense_Mutation_p.A306S|USP28_uc010rwy.1_Missense_Mutation_p.A473S|USP28_uc001poi.2_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	598					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGTGTCCAGCATTTGCTTGT	0.433		NA											25	86					4.06e-26	6.09e-26	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319057	130319057	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:130319057C>T	uc010scd.1	+	1	189	c.189C>T	c.(187-189)GAC>GAT	p.D63D		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	63					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGGAGGACTTTTACCTAC	0.612		NA											11	90					0	0	0	0
SPATA19	219938	broad.mit.edu	37	11	133715038	133715038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:133715038C>A	uc001qgv.1	-	2	177	c.126G>T	c.(124-126)TGG>TGT	p.W42C		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	42					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTTTTCAACCAATGATGTA	0.423		NA											6	36					3.6e-05	4.35e-05	1	0
SLC6A13	6540	broad.mit.edu	37	12	333259	333259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:333259C>T	uc001qic.1	-	11	1263	c.1210G>A	c.(1210-1212)GAC>AAC	p.D404N	SLC6A13_uc009zdj.1_Missense_Mutation_p.D394N|SLC6A13_uc010sdl.1_Missense_Mutation_p.D312N	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	404					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGTACATGTCCACCAGCGCT	0.557		NA											6	40					0	0	0	0
LPAR5	57121	broad.mit.edu	37	12	6729716	6729716	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:6729716C>T	uc009zer.2	-	2	980	c.699G>A	c.(697-699)GTG>GTA	p.V233V	LPAR5_uc001qps.2_Silent_p.V233V|LPAR5_uc010sff.1_Silent_p.V233V	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						GCAGGAGGCGCACGGTCTTCC	0.697		NA											4	5					0	0	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192621	8192621	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:8192621G>T	uc001qtu.2	+	2	1278	c.193G>T	c.(193-195)GGC>TGC	p.G65C	FOXJ2_uc001qtt.1_Missense_Mutation_p.G65C	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	65					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GCACCAGGACGGCAAGCCACG	0.582		NA											18	73					1.78e-19	2.63e-19	1	0
PRB2	653247	broad.mit.edu	37	12	11546523	11546523	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:11546523G>T	uc010shk.1	-	3	524	c.489C>A	c.(487-489)CCC>CCA	p.P163P		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGGGGTGGTCCTT	0.602		NA											79	649					6.17e-39	9.32e-39	1	0
ABCC9	10060	broad.mit.edu	37	12	21991070	21991070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:21991070G>A	uc001rfi.1	-	28	3528	c.3508C>T	c.(3508-3510)CCT>TCT	p.P1170S	ABCC9_uc001rfh.2_Missense_Mutation_p.P1170S|ABCC9_uc001rfj.1_Missense_Mutation_p.P1134S	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1170	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGCAGAGGGAGCTGGGTA	0.443		NA											23	70					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40668693	40668693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40668693G>T	uc001rmg.3	+	16	1960	c.1839G>T	c.(1837-1839)TTG>TTT	p.L613F	LRRK2_uc001rmh.1_Missense_Mutation_p.L235F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	613					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGATACTTGATTACAAAGA	0.308		NA											4	42					2.56e-06	3.19e-06	1	0
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40740560C>T	uc001rmg.3	+	42	6236	c.6115C>T	c.(6115-6117)CGT>TGT	p.R2039C	LRRK2_uc009zjw.2_Missense_Mutation_p.R877C|LRRK2_uc001rmi.2_Missense_Mutation_p.R872C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGGGTTTCGTGCACCTGA	0.373		NA											4	26					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49424105	49424105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:49424105T>A	uc001rta.3	-	42	13957	c.13957A>T	c.(13957-13959)AAG>TAG	p.K4653*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4653					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCAGCATCCTTGGGGTGCTCC	0.622		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			5	10					0	0	0	0
AQP6	363	broad.mit.edu	37	12	50367220	50367220	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50367220C>T	uc001rvr.1	+	1	601	c.264C>T	c.(262-264)GCC>GCT	p.A88A	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	88	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						TGACGCTGGCCTTCCTCGTAG	0.657		NA											15	82					0	0	0	0
LIMA1	51474	broad.mit.edu	37	12	50594639	50594639	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50594639A>G	uc001rwj.3	-	7	1067	c.893T>C	c.(892-894)ATC>ACC	p.I298T	LIMA1_uc001rwg.3_5'UTR|LIMA1_uc001rwh.3_Missense_Mutation_p.I138T|LIMA1_uc001rwi.3_Missense_Mutation_p.I138T|LIMA1_uc001rwk.3_Missense_Mutation_p.I298T|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	298					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						ATGAATTTTGATTTCGCCACC	0.388		NA											56	243					0	0	0	0
OR10A7	121364	broad.mit.edu	37	12	55615641	55615641	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:55615641A>G	uc010spf.1	+	1	833	c.833A>G	c.(832-834)TAC>TGC	p.Y278C		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TCATTGTCCTACACTGTCATC	0.493		NA											19	54					0	0	0	0
RNF41	10193	broad.mit.edu	37	12	56600268	56600268	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:56600268A>C	uc001skf.1	-	7	1286	c.917T>G	c.(916-918)CTT>CGT	p.L306R	RNF41_uc001ske.1_Missense_Mutation_p.L235R|RNF41_uc001skg.1_Missense_Mutation_p.L306R|RNF41_uc010sqg.1_Missense_Mutation_p.L241R|RNF41_uc010sqh.1_Missense_Mutation_p.L235R	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	306					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						TATCATGACAAGGCCTGGCTC	0.527		NA									OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					0	0	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446604	105446604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:105446604G>T	uc001tlc.2	-	11	1520	c.1393C>A	c.(1393-1395)CCA>ACA	p.P465T	ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	465	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						CCATCTGTTGGGTTGATAGTG	0.318		NA									OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					1.77e-08	2.34e-08	1	0
NAA25	80018	broad.mit.edu	37	12	112528566	112528566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:112528566G>C	uc001ttm.2	-	3	267	c.247C>G	c.(247-249)CAG>GAG	p.Q83E	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Q55E|NAA25_uc009zwa.1_Missense_Mutation_p.Q83E	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	83	TPR 3.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GTCAGTGCCTGCAGTGAGTTG	0.423		NA											25	83					0	0	0	0
FLT1	2321	broad.mit.edu	37	13	29007977	29007977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:29007977C>T	uc001usb.3	-	6	1077	c.792G>A	c.(790-792)ATG>ATA	p.M264I	FLT1_uc010aar.1_Missense_Mutation_p.M264I|FLT1_uc001usc.3_Missense_Mutation_p.M264I|FLT1_uc010tdp.1_Missense_Mutation_p.M264I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	264	Extracellular (Potential).|Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AACTCCAGGTCATTTGAACTC	0.443		NA											10	43					0	0	0	0
LRCH1	23143	broad.mit.edu	37	13	47279253	47279253	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:47279253G>A	uc001vbj.2	+	12	1687	c.1451G>A	c.(1450-1452)GGA>GAA	p.G484E	LRCH1_uc010acp.2_Missense_Mutation_p.G484E|LRCH1_uc001vbk.2_Missense_Mutation_p.G484E|LRCH1_uc001vbl.3_Missense_Mutation_p.G484E	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	484										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TATCCTATGGGATCAGCAGAA	0.284		NA											8	54					0	0	0	0
FNDC3A	22862	broad.mit.edu	37	13	49777296	49777296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:49777296C>T	uc001vcm.2	+	25	3463	c.3158C>T	c.(3157-3159)CCC>CTC	p.P1053L	FNDC3A_uc001vcn.2_Missense_Mutation_p.P1053L|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.P997L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1053	Fibronectin type-III 9.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTACAGCCCCCAAAATAGAG	0.303		NA											5	24					0	0	0	0
CKAP2	26586	broad.mit.edu	37	13	53036054	53036054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:53036054G>T	uc001vgv.2	+	4	1293	c.1096G>T	c.(1096-1098)GAG>TAG	p.E366*	CKAP2_uc001vgt.2_Nonsense_Mutation_p.E365*|CKAP2_uc001vgu.2_Nonsense_Mutation_p.E365*|CKAP2_uc010tha.1_Nonsense_Mutation_p.E317*	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	366					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACCTCGGAAGAGAGAAAGTA	0.343		NA											11	19					6.4e-05	7.66e-05	1	0
MYO16	23026	broad.mit.edu	37	13	109707435	109707435	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:109707435G>A	uc001vqt.1	+	26	3150	c.3024G>A	c.(3022-3024)TTG>TTA	p.L1008L	MYO16_uc010agk.1_Silent_p.L1030L|MYO16_uc001vqu.1_Silent_p.L808L|MYO16_uc010tjh.1_Silent_p.L520L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1008	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCAAAGATTGGAACGAGGAG	0.313		NA											8	30					0	0	0	0
SOX1	6656	broad.mit.edu	37	13	112722188	112722188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:112722188G>T	uc001vsb.1	+	1	276	c.216G>T	c.(214-216)GAG>GAT	p.E72D		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	72	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGCCCAGGAGAACCCCAAGA	0.602		NA											8	42					3.1e-07	3.95e-07	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:21771560A>T	uc001wag.2	+	5	658	c.658A>T	c.(658-660)ATG>TTG	p.M220L		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	220					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403		NA											13	31					0	0	0	0
RABGGTA	5875	broad.mit.edu	37	14	24736904	24736904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:24736904C>T	uc001wof.2	-	13	1737	c.1315G>A	c.(1315-1317)GAG>AAG	p.E439K	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.E439K|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	439					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		TCGGCATACTCCATCTTGAGC	0.622		NA											8	35					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30135391	30135391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:30135391G>C	uc001wqh.2	-	3	608	c.427C>G	c.(427-429)CAG>GAG	p.Q143E		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	143					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGACGAATCTGAAAGTCTTCA	0.408		NA											12	43					0	0	0	0
NID2	22795	broad.mit.edu	37	14	52520359	52520359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:52520359G>A	uc001wzo.2	-	5	1601	c.1367C>T	c.(1366-1368)ACA>ATA	p.T456I	NID2_uc010tqs.1_Missense_Mutation_p.T456I|NID2_uc010tqt.1_Missense_Mutation_p.T456I|NID2_uc001wzp.2_Missense_Mutation_p.T456I	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	456						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTAAGGGTGTAGTGTGACC	0.498		NA											37	125					0	0	0	0
DACT1	51339	broad.mit.edu	37	14	59112196	59112196	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:59112196T>C	uc001xdw.2	+	4	1019	c.855T>C	c.(853-855)CTT>CTC	p.L285L	DACT1_uc010trv.1_Silent_p.L4L|DACT1_uc001xdx.2_Silent_p.L248L|DACT1_uc010trw.1_Silent_p.L4L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	285					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGTTTCTCCTTTGTCTGACGG	0.502		NA											13	67					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62547851	62547851	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:62547851T>C	uc001xfu.1	+	4	1490	c.1293T>C	c.(1291-1293)TGT>TGC	p.C431C	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	431	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCTGCCTGTGCTGTCCGCT	0.572		NA											6	23					0	0	0	0
PPP4R4	57718	broad.mit.edu	37	14	94640869	94640869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:94640869G>A	uc001ycs.1	+	1	221	c.67G>A	c.(67-69)GAC>AAC	p.D23N	PPP4R4_uc001ycr.2_Missense_Mutation_p.D23N	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	23						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						TTACATGGAGGACCTGCAGGA	0.617		NA											19	36					0	0	0	0
RTL1	388015	broad.mit.edu	37	14	101349302	101349302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:101349302G>T	uc010txj.1	-	1	1883	c.1824C>A	c.(1822-1824)TAC>TAA	p.Y608*	uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	608										pancreas(1)	1						AGGGACACTCGTAAAAGGTCT	0.567		NA											8	35					3.1e-07	3.95e-07	1	0
OR4M2	390538	broad.mit.edu	37	15	22369359	22369359	+	Missense_Mutation	SNP	C	C	G	rs145231732		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:22369359C>G	uc010tzu.1	+	1	784	c.784C>G	c.(784-786)CGC>GGC	p.R262G	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATTTATGCTCGCCCATTTGA	0.418		NA											6	141					0	0	0	0
SNRPN	6638	broad.mit.edu	37	15	25222051	25222052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222051_25222052GG>TT	uc001ywp.1	+	10	1185_1186	c.295_296GG>TT	c.(295-297)GGA>TTA	p.G99L	SNRPN_uc001ywq.1_Missense_Mutation_p.G99L|SNRPN_uc001ywr.1_Missense_Mutation_p.G99L|SNRPN_uc001yws.1_Missense_Mutation_p.G99L|SNRPN_uc001ywt.1_Missense_Mutation_p.G99L|SNRPN_uc001ywv.1_Missense_Mutation_p.G102L|SNRPN_uc001yww.1_Missense_Mutation_p.G99L|SNRPN_uc001ywx.1_Missense_Mutation_p.G99L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCACTTGCTGGAGCTGCTGGA	0.51		NA							Prader-Willi_syndrome				13	75					0	0	0	0
ONECUT1	3175	broad.mit.edu	37	15	53050034	53050034	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:53050034C>T	uc002aci.1	-	2	1244	c.1116G>A	c.(1114-1116)AGG>AGA	p.R372R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	372					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		CTTGTTCTTTCCTTTTGCATG	0.423		NA											17	95					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54847645	54847645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:54847645G>T	uc002ack.2	+	27	5893	c.5893G>T	c.(5893-5895)GAG>TAG	p.E1965*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1965	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGATTCGAGAGGATGCCAG	0.413		NA											6	45					8.13e-05	9.63e-05	1	0
CCPG1	9236	broad.mit.edu	37	15	55657499	55657499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:55657499G>A	uc002acv.1	-	7	880	c.715C>T	c.(715-717)CAG>TAG	p.Q239*	CCPG1_uc002acy.2_Nonsense_Mutation_p.Q239*|CCPG1_uc002acu.1_Nonsense_Mutation_p.Q95*|CCPG1_uc002acw.1_Intron|CCPG1_uc002acx.2_Nonsense_Mutation_p.Q239*|CCPG1_uc010bfk.1_Nonsense_Mutation_p.Q239*|CCPG1_uc002acz.1_Nonsense_Mutation_p.Q239*	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	239	Lumenal (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTCTGAATCTGAATTGTGCCt	0.234		NA											15	70					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62217667	62217667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:62217667T>G	uc002agz.2	-	53	6671	c.6597A>C	c.(6595-6597)GAA>GAC	p.E2199D	VPS13C_uc002aha.2_Missense_Mutation_p.E2156D|VPS13C_uc002ahb.1_Missense_Mutation_p.E2199D|VPS13C_uc002ahc.1_Missense_Mutation_p.E2156D	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2199					protein localization					ovary(2)	2						TAATTATAAATTCTTTAACCA	0.294		NA											3	5					0	0	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748907	79748907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:79748907G>A	uc002bew.1	+	2	493	c.418G>A	c.(418-420)GAG>AAG	p.E140K	KIAA1024_uc010unk.1_Missense_Mutation_p.E140K	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	140						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CCTGAACTGTGAGCTGAGTGA	0.577		NA											9	82					0	0	0	0
ACAN	176	broad.mit.edu	37	15	89417692	89417692	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:89417692C>A	uc010upo.1	+	18	7947	c.7573C>A	c.(7573-7575)CGC>AGC	p.R2525S	ACAN_uc010upp.1_Missense_Mutation_p.R2426S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2525					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCGGAGGAGCCGCCCCAGCAC	0.617		NA											4	13					0.00909568	0.00982103	1	0
CIITA	4261	broad.mit.edu	37	16	10995954	10995954	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:10995954A>C	uc002dai.3	+	7	674	c.541A>C	c.(541-543)ACC>CCC	p.T181P	CIITA_uc002daj.3_Missense_Mutation_p.T182P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.T181P|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.T181P	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	181					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						CGACTGCTCCACCCTGCCCTG	0.617		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								11	126					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58612676	58612676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:58612676G>C	uc002env.2	-	13	1804	c.1511C>G	c.(1510-1512)TCC>TGC	p.S504C	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S504C|CNOT1_uc002enx.2_Missense_Mutation_p.S504C|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	504					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCAGAGTGGAGATAAGTTC	0.448		NA											9	65					0	0	0	0
SMPD3	55512	broad.mit.edu	37	16	68395622	68395622	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:68395622A>T	uc002ewa.2	-	8	2172	c.1750T>A	c.(1750-1752)TTT>ATT	p.F584I	SMPD3_uc010cfe.2_Intron|SMPD3_uc010vlh.1_Missense_Mutation_p.F576I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	584	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGGTGGGAAACGCCAGGTAC	0.682		NA											20	57					0	0	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188257	72188257	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:72188257T>A	uc002fcc.3	-	4	439	c.267A>T	c.(265-267)AAA>AAT	p.K89N	PMFBP1_uc002fcd.2_Missense_Mutation_p.K89N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	89	Potential.									ovary(2)	2		Ovarian(137;0.179)				GGACCAGCAATTTTTTCTTCA	0.453		NA											17	88					0	0	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236234	81236234	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:81236234G>A	uc002fgh.1	-	6	1014	c.1014C>T	c.(1012-1014)ACC>ACT	p.T338T	PKD1L2_uc002fgj.2_Silent_p.T338T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	338	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TGTCTCGCACGGTCACCTGCC	0.582		NA											20	60					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:7577556C>A	uc002gim.2	-	7	919	c.725G>T	c.(724-726)TGC>TTC	p.C242F	TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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)		GCCGCCCATGCAGGAACTGTT	0.577		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)			28	44					3e-07	3.85e-07	1	0
NTN1	9423	broad.mit.edu	37	17	8926249	8926249	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:8926249C>A	uc002glw.3	+	2	666	c.559C>A	c.(559-561)CGG>AGG	p.R187R		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	187	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GATGTACAACCGGCCGCACCG	0.667		NA											4	21					0.00909568	0.00982103	1	0
MYH8	4626	broad.mit.edu	37	17	10305003	10305003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:10305003C>G	uc002gmm.2	-	23	2883	c.2788G>C	c.(2788-2790)GAG>CAG	p.E930Q	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	930	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TCCTCCTCCTCAGCTCTTTCA	0.443		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				38	273					0	0	0	0
ACCN1	40	broad.mit.edu	37	17	31439077	31439077	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:31439077T>C	uc002hhu.2	-	2	838	c.564A>G	c.(562-564)ACA>ACG	p.T188T	ACCN1_uc002hht.2_Silent_p.T239T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	188	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	TCCCATATTTTGTAAACACCT	0.527		NA											7	38					0	0	0	0
LHX1	3975	broad.mit.edu	37	17	35298160	35298160	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:35298160C>A	uc002hnh.1	+	3	1647	c.651C>A	c.(649-651)ACC>ACA	p.T217T	LHX1_uc010cux.1_Silent_p.T125T	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	217	Homeobox.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				CGCAGGAGACCGGCCTCAACA	0.672		NA											4	13					0.00909568	0.00982103	1	0
MED24	9862	broad.mit.edu	37	17	38184186	38184186	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:38184186T>A	uc002htt.2	-	15	1736	c.1423A>T	c.(1423-1425)ACA>TCA	p.T475S	MED24_uc010wes.1_Missense_Mutation_p.T335S|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T500S|MED24_uc002htu.2_Missense_Mutation_p.T462S|MED24_uc010cwn.2_Missense_Mutation_p.T462S|MED24_uc010weu.1_Missense_Mutation_p.T385S|MED24_uc010wev.1_Missense_Mutation_p.T425S|MED24_uc010wew.1_Missense_Mutation_p.T416S|MED24_uc010wex.1_Missense_Mutation_p.T180S	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	475					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CCATAGGTTGTGAATTCATTC	0.577		NA											4	130					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41245558	41245558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:41245558T>C	uc002icq.2	-	10	2222	c.1990A>G	c.(1990-1992)AGA>GGA	p.R664G	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R593G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R617G|BRCA1_uc002ict.2_Missense_Mutation_p.R664G|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R664G|BRCA1_uc002ide.1_Missense_Mutation_p.R495G|BRCA1_uc010cyy.1_Missense_Mutation_p.R664G|BRCA1_uc010whs.1_Missense_Mutation_p.R664G|BRCA1_uc010cyz.2_Missense_Mutation_p.R617G|BRCA1_uc010cza.2_Missense_Mutation_p.R638G|BRCA1_uc010wht.1_Missense_Mutation_p.R368G	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	664					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)		TGTAGGTTTCTGCTGTGCCTG	0.393		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			16	96					0	0	0	0
CDC27	996	broad.mit.edu	37	17	45219297	45219297	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:45219297T>G	uc002ild.3	-	12	1600	c.1473A>C	c.(1471-1473)CTA>CTC	p.L491L	CDC27_uc002ile.3_Silent_p.L497L|CDC27_uc002ilf.3_Silent_p.L490L|CDC27_uc010wkp.1_Silent_p.L430L|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						GGTGAGAAGGTAGATGGCTCA	0.378		NA											4	158					0	0	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846860	72846860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:72846860C>G	uc002jlt.1	-	5	1316	c.1160G>C	c.(1159-1161)TGG>TCG	p.W387S	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.W387S|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	387	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGCGAGGCCACACGGGGTA	0.657		NA											8	19					0	0	0	0
PTPRM	5797	broad.mit.edu	37	18	7949203	7949203	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:7949203C>T	uc002knn.3	+	6	1191	c.688C>T	c.(688-690)CTG>TTG	p.L230L	PTPRM_uc010dkv.2_Silent_p.L230L|PTPRM_uc010wzl.1_Silent_p.L17L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	230	Ig-like C2-type.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AGATGCTCCTCTGAAGGAAAT	0.473		NA											13	78					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64178851	64178851	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64178851A>T	uc002lkc.1	-	10	1668	c.1530T>A	c.(1528-1530)TCT>TCA	p.S510S	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	510	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TGTCTTCTACAGATAGATTAA	0.308		NA											9	30					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64202257	64202257	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64202257A>T	uc002lkc.1	-	8	1440	c.1302T>A	c.(1300-1302)GCT>GCA	p.A434A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A434A|CDH19_uc002lkd.2_Silent_p.A434A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	434	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GGTTGTACCAAGCACTGATTT	0.323		NA											6	28					0	0	0	0
DOK6	220164	broad.mit.edu	37	18	67266726	67266726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:67266726G>T	uc002lkl.2	+	3	471	c.281G>T	c.(280-282)TGT>TTT	p.C94F		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	94	PH.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACATTTGCCTGTGAGTCAGGT	0.448		NA											5	19					5.94e-07	7.52e-07	1	0
HMHA1	23526	broad.mit.edu	37	19	1080953	1080953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:1080953G>A	uc002lqz.1	+	17	2311	c.2080G>A	c.(2080-2082)GAG>AAG	p.E694K	HMHA1_uc010xgd.1_Missense_Mutation_p.E710K|HMHA1_uc010xge.1_Missense_Mutation_p.E562K|HMHA1_uc002lra.1_Missense_Mutation_p.E534K|HMHA1_uc002lrb.1_Missense_Mutation_p.E577K|HMHA1_uc002lrc.1_Missense_Mutation_p.E329K|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GTTCCGCCACGAGGGGCTGTC	0.692		NA											3	20					0	0	0	0
TRIP10	9322	broad.mit.edu	37	19	6746509	6746509	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:6746509G>A	uc002mfs.2	+	11	1265	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	TRIP10_uc010dux.1_Missense_Mutation_p.R344Q|TRIP10_uc002mfr.2_Missense_Mutation_p.R344Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R163Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	400	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						GAGCAGCAGCGAAAACGGCTT	0.547		NA											10	75					0	0	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506611	7506611	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:7506611G>T	uc002mgi.2	+	2	868	c.615G>T	c.(613-615)CTG>CTT	p.L205L	ARHGEF18_uc010xjm.1_Silent_p.L47L|ARHGEF18_uc002mgh.2_Silent_p.L47L	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	205					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				ATGACTCTCTGTCCCTTACAT	0.458		NA											27	96					2.13e-12	2.99e-12	1	0
MUC16	94025	broad.mit.edu	37	19	9010683	9010683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:9010683G>C	uc002mkp.2	-	38	39182	c.38978C>G	c.(38977-38979)ACC>AGC	p.T12993S	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12995	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTCCCTGAGGTCCCAAGGTC	0.512		NA											6	26					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10602622	10602622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:10602622C>A	uc002moq.1	-	3	1112	c.956G>T	c.(955-957)TGC>TTC	p.C319F	KEAP1_uc002mop.1_Missense_Mutation_p.C37F|KEAP1_uc002mor.1_Missense_Mutation_p.C319F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGCGCCCGGCAGGGCATCAC	0.642		NA											14	34					9.31e-06	1.15e-05	1	0
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:11527319C>T	uc002mrp.2	-	4	458	c.394G>A	c.(394-396)GTA>ATA	p.V132I	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.V132I|RGL3_uc002mrq.2_3'UTR	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	132	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						AGATCTTGTACCGCTGTCTTC	0.567		NA											23	94					0	0	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:14262129A>C	uc010xnn.1	-	24	4277	c.3981T>G	c.(3979-3981)GGT>GGG	p.G1327G	LPHN1_uc010xno.1_Silent_p.G1322G|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1327	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CCCGGTCAGCACCCCCGGGCC	0.716		NA											6	11					0	0	0	0
ZNF257	113835	broad.mit.edu	37	19	22271482	22271482	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22271482T>A	uc010ecx.2	+	4	1099	c.930T>A	c.(928-930)CAT>CAA	p.H310Q	ZNF257_uc010ecy.2_Missense_Mutation_p.H278Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	310	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAATTCATACTGGAGAGA	0.408		NA											4	52					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22952031	22952031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22952031C>G	uc010xrh.1	-	2	162	c.162G>C	c.(160-162)ATG>ATC	p.M54I		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTTCTCTAACATAACATTCC	0.393		NA											7	78					0	0	0	0
SIRT2	22933	broad.mit.edu	37	19	39390156	39390156	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:39390156T>C	uc002ojt.1	-	1	206	c.6A>G	c.(4-6)GCA>GCG	p.A2A	SIRT2_uc002oju.1_5'UTR|SIRT2_uc010egj.1_5'UTR|SIRT2_uc002ojv.1_Silent_p.A2A|NFKBIB_uc010egk.1_5'Flank|NFKBIB_uc002ojw.2_5'Flank|NFKBIB_uc002ojx.2_5'Flank|NFKBIB_uc002ojy.2_5'Flank	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	2					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGTCTGGCTCTGCCATGGGCG	0.706		NA											12	34					0	0	0	0
MEGF8	1954	broad.mit.edu	37	19	42860263	42860263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:42860263G>A	uc002otl.3	+	24	4855	c.4220G>A	c.(4219-4221)GGC>GAC	p.G1407D	MEGF8_uc002otm.3_Missense_Mutation_p.G1015D	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1474	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGTGCCGAGGGCTTCGGGGGC	0.672		NA											9	13					0	0	0	0
PSG7	5676	broad.mit.edu	37	19	43439857	43439857	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:43439857T>C	uc002ovl.3	-	2	231	c.129A>G	c.(127-129)CCA>CCG	p.P43P	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	43	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CGGAAACTTTTGGTGGCTGGG	0.493		NA											27	167					0	0	0	0
DHX34	9704	broad.mit.edu	37	19	47863303	47863303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:47863303G>T	uc010xyn.1	+	5	1692	c.1351G>T	c.(1351-1353)GGG>TGG	p.G451W	DHX34_uc010elc.1_Missense_Mutation_p.G366W	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	451	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCATTGACGGGATCCGCTT	0.592		NA											33	100					2.08e-15	3e-15	1	0
CRX	1406	broad.mit.edu	37	19	48337742	48337742	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48337742C>T	uc002phq.3	+	2	246	c.42C>T	c.(40-42)AAC>AAT	p.N14N	CRX_uc010elm.1_Intron	NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	14					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATTCTGTCAACGCCTTGGCCC	0.587		NA											16	50					0	0	0	0
ZNF114	163071	broad.mit.edu	37	19	48785741	48785741	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48785741C>T	uc002pil.1	+	5	620	c.123C>T	c.(121-123)AAC>AAT	p.N41N	ZNF114_uc010elv.1_Silent_p.N41N|ZNF114_uc002pim.1_Silent_p.N41N|ZNF114_uc002pin.2_Silent_p.N7N	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTCTAGGAACTTGGCATTCA	0.527		NA											13	113					0	0	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377451	49377451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:49377451G>A	uc002pky.3	+	2	1230	c.961G>A	c.(961-963)GAG>AAG	p.E321K		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	321	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGGGCAGCTGAGAAGGATGG	0.612		NA											14	60					0	0	0	0
SYT3	84258	broad.mit.edu	37	19	51133412	51133412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:51133412G>A	uc002pst.2	-	3	1325	c.691C>T	c.(691-693)CGA>TGA	p.R231*	SYT3_uc002psv.2_Nonsense_Mutation_p.R231*|SYT3_uc010ycd.1_Nonsense_Mutation_p.R231*	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	231	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTGAGGGGTCGGGGCAGGGCT	0.657		NA											18	16					0	0	0	0
ZNF615	284370	broad.mit.edu	37	19	52496489	52496489	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52496489G>T	uc002pye.1	-	6	2132	c.1840C>A	c.(1840-1842)CAT>AAT	p.H614N	ZNF615_uc002pyf.1_Missense_Mutation_p.H625N|ZNF615_uc002pyg.1_Missense_Mutation_p.H506N|ZNF615_uc002pyh.1_Missense_Mutation_p.H625N|ZNF615_uc010epi.1_Missense_Mutation_p.H621N|ZNF615_uc010ydg.1_Missense_Mutation_p.H619N	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	614	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTGCTGATGTATACTGAGA	0.413		NA											13	92					1.58e-08	2.1e-08	1	0
ZNF528	84436	broad.mit.edu	37	19	52919017	52919017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52919017G>T	uc002pzh.2	+	7	1338	c.912G>T	c.(910-912)AAG>AAT	p.K304N	ZNF528_uc002pzi.2_Missense_Mutation_p.K71N	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	304	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGACAAGGTCTTCAATC	0.383		NA											11	61					3.86e-05	4.64e-05	1	0
NLRP12	91662	broad.mit.edu	37	19	54314216	54314216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314216C>A	uc002qch.3	-	3	917	c.697G>T	c.(697-699)GAC>TAC	p.D233Y	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.D233Y|NLRP12_uc002qcj.3_Missense_Mutation_p.D233Y|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.D233Y	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	233	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGCCCAGTCCAGCATCACC	0.582		NA											15	55					1.36e-06	1.71e-06	1	0
NLRP12	91662	broad.mit.edu	37	19	54314237	54314237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314237G>C	uc002qch.3	-	3	896	c.676C>G	c.(676-678)CTG>GTG	p.L226V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L226V|NLRP12_uc002qcj.3_Missense_Mutation_p.L226V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L226V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTGTGCCAGCATGGACTTG	0.582		NA											16	68					0	0	0	0
PRKCG	5582	broad.mit.edu	37	19	54403990	54403990	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54403990A>G	uc002qcq.1	+	14	1844	c.1562A>G	c.(1561-1563)TAC>TGC	p.Y521C	PRKCG_uc010yeg.1_Missense_Mutation_p.Y521C|PRKCG_uc010yeh.1_Missense_Mutation_p.Y408C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.Y521N(1)		lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGGACTACATAGCCCCG	0.577		NA											68	265					0	0	0	0
GP6	51206	broad.mit.edu	37	19	55538970	55538970	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:55538970C>A	uc002qik.2	-	4	614	c.586G>T	c.(586-588)GAC>TAC	p.D196Y	GP6_uc002qil.2_Missense_Mutation_p.D196Y|GP6_uc010esq.2_Missense_Mutation_p.D196Y|RDH13_uc010esr.1_RNA	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	196	Ig-like C2-type 2.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCAGGGGGTCGCTGGGGGCT	0.587		NA											7	98					1.07e-07	1.39e-07	1	0
ITSN2	50618	broad.mit.edu	37	2	24484540	24484540	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:24484540T>A	uc002rfe.2	-	21	2685	c.2427A>T	c.(2425-2427)CCA>CCT	p.P809P	ITSN2_uc002rff.2_Silent_p.P782P|ITSN2_uc002rfg.2_Silent_p.P809P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	809	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAATTGCATGGAAACCAGC	0.368		NA											7	37					0	0	0	0
OTOF	9381	broad.mit.edu	37	2	26687858	26687858	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:26687858G>A	uc002rhk.2	-	39	4966	c.4839C>T	c.(4837-4839)AGC>AGT	p.S1613S	OTOF_uc010yla.1_Silent_p.S343S|OTOF_uc002rhh.2_Silent_p.S846S|OTOF_uc002rhi.2_Silent_p.S923S|OTOF_uc002rhj.2_Silent_p.S846S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1613	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATCTGGCTGGGCTTCA	0.627		NA											8	45					0	0	0	0
NRBP1	29959	broad.mit.edu	37	2	27663754	27663754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:27663754C>T	uc002rko.2	+	15	2108	c.1276C>T	c.(1276-1278)CCC>TCC	p.P426S	NRBP1_uc002rkq.2_Missense_Mutation_p.P425S|NRBP1_uc002rkp.2_Missense_Mutation_p.P426S|NRBP1_uc002rkr.2_Missense_Mutation_p.P217S|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	426					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACCTGTCGTGCCCCCCTCTGT	0.602		NA											12	76					0	0	0	0
EHD3	30845	broad.mit.edu	37	2	31483477	31483477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31483477G>T	uc002rnu.2	+	4	1212	c.604G>T	c.(604-606)GAA>TAA	p.E202*	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	202	Potential.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCTCAGAAGTCATCAA	0.537		NA											17	39					2e-07	2.56e-07	1	0
XDH	7498	broad.mit.edu	37	2	31598336	31598336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31598336C>A	uc002rnv.1	-	15	1591	c.1512G>T	c.(1510-1512)ATG>ATT	p.M504I		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	504					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGAAGTCCACCATGCCACCAG	0.607		NA											20	72					1.56e-12	2.2e-12	1	0
VIT	5212	broad.mit.edu	37	2	36982161	36982161	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:36982161T>G	uc002rpl.2	+	5	594	c.373T>G	c.(373-375)TCC>GCC	p.S125A	VIT_uc002rpk.2_Missense_Mutation_p.S118A|VIT_uc010ynf.1_Missense_Mutation_p.S118A|VIT_uc002rpm.2_Missense_Mutation_p.S118A|VIT_uc010ezv.2_Missense_Mutation_p.S118A|VIT_uc010ezw.2_Missense_Mutation_p.S118A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	125	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CCAATCGTTATCCCTACCACG	0.438		NA											5	32					0	0	0	0
EPAS1	2034	broad.mit.edu	37	2	46574098	46574098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:46574098C>T	uc002ruv.2	+	2	601	c.113C>T	c.(112-114)GCC>GTC	p.A38V		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	38	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATGAGCTGGCCCATGAGCTG	0.602		NA											14	107					0	0	0	0
PSME4	23198	broad.mit.edu	37	2	54117299	54117299	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:54117299A>T	uc002rxp.2	-	37	4294	c.4238T>A	c.(4237-4239)CTG>CAG	p.L1413Q	PSME4_uc010yop.1_Missense_Mutation_p.L1299Q|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L788Q|PSME4_uc010fbv.1_Missense_Mutation_p.L557Q|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATATTGGACAGTGCTGTTCT	0.388		NA											26	119					0	0	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043258	71043258	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:71043258C>A	uc002shf.2	-	4	1332	c.1255G>T	c.(1255-1257)GCC>TCC	p.A419S	CLEC4F_uc010yqv.1_Missense_Mutation_p.A419S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	419	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TGGATCTCGGCACTGGCCTTC	0.498		NA											9	34					7.48e-07	9.44e-07	1	0
REG3G	130120	broad.mit.edu	37	2	79255021	79255021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:79255021T>A	uc002snw.2	+	5	507	c.422T>A	c.(421-423)TTA>TAA	p.L141*	REG3G_uc002snx.2_Nonsense_Mutation_p.L141*|REG3G_uc010ffu.2_Nonsense_Mutation_p.L95*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	141	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						TCCACCATCTTAAACCCTGGC	0.498		NA											20	94					0	0	0	0
RPIA	22934	broad.mit.edu	37	2	88991474	88991474	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:88991474C>T	uc002ste.2	+	1	299	c.258C>T	c.(256-258)GGC>GGT	p.G86G		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	86					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGCTGGCGGGCCGCGCGGCTG	0.672		NA											5	15					0	0	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136343	103136343	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:103136343A>G	uc002tbz.3	+	9	2204	c.1747A>G	c.(1747-1749)AGA>GGA	p.R583G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	583	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AGGAATCAAAAGACTTTCCCC	0.458		NA											10	24					0	0	0	0
UGGT1	56886	broad.mit.edu	37	2	128937402	128937402	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:128937402G>C	uc002tps.2	+	35	4036	c.3858G>C	c.(3856-3858)GTG>GTC	p.V1286V	UGGT1_uc002tpr.2_Silent_p.V1262V	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1286	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						AGACTCCTGTGAAATTCTGGT	0.343		NA											11	53					0	0	0	0
SMPD4	55627	broad.mit.edu	37	2	130918826	130918826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:130918826C>A	uc002tqq.1	-	11	1521	c.1001G>T	c.(1000-1002)CGA>CTA	p.R334L	SMPD4_uc002tqp.1_Missense_Mutation_p.R27L|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.R202L|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Missense_Mutation_p.D48Y|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	295					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GACACTGAGTCGGTAGTGCAG	0.597		NA											15	58					2.32e-05	2.82e-05	1	0
ZEB2	9839	broad.mit.edu	37	2	145156365	145156366	+	Missense_Mutation	DNP	GG	GG	TT	rs111359671		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156365_145156366GG>TT	uc002tvu.2	-	8	2868_2869	c.2388_2389CC>AA	c.(2386-2391)TCCCAC>TCAAAC	p.H797N	ZEB2_uc002tvv.2_Missense_Mutation_p.H791N|ZEB2_uc010zbm.1_Missense_Mutation_p.H768N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.H826N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	797						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTAG	0.396		NA											20	140					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163695000	163695000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:163695000G>T	uc002uch.1	-	1	241	c.29C>A	c.(28-30)CCA>CAA	p.P10Q	KCNH7_uc002uci.2_Missense_Mutation_p.P10Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	10	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TGTATTTTGTGGTGCCACATG	0.562		NA											14	56					2.49e-13	3.53e-13	1	0
SCN7A	6332	broad.mit.edu	37	2	167279890	167279890	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167279890T>G	uc002udu.1	-	18	3033	c.2906A>C	c.(2905-2907)GAA>GCA	p.E969A	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	969	Helical; Name=S2 of repeat III; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GTCAGCATATTCTAATAAAAT	0.308		NA											6	22					0	0	0	0
SCN7A	6332	broad.mit.edu	37	2	167301445	167301445	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167301445A>T	uc002udu.1	-	12	1580	c.1453T>A	c.(1453-1455)TGG>AGG	p.W485R	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	485					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GAACAATTCCAGATCAAGAAA	0.294		NA											9	25					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179423146	179423146	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179423146G>T	uc010zfg.1	-	276	79560	c.79336C>A	c.(79336-79338)CGA>AGA	p.R26446R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R20141R|TTN_uc010zfi.1_Silent_p.R20074R|TTN_uc010zfj.1_Silent_p.R19949R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27373							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)			GCAAACACTCGGAAAAAGTAT	0.423		NA											10	32					2.74e-10	3.76e-10	1	0
TTN	7273	broad.mit.edu	37	2	179431634	179431634	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179431634G>T	uc010zfg.1	-	275	71745	c.71521C>A	c.(71521-71523)CGT>AGT	p.R23841S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17536S|TTN_uc010zfi.1_Missense_Mutation_p.R17469S|TTN_uc010zfj.1_Missense_Mutation_p.R17344S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24768							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)			CTATCTGGACGGTTCCAACAG	0.413		NA											27	78					3.74e-20	5.55e-20	1	0
TTN	7273	broad.mit.edu	37	2	179483207	179483207	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179483207G>T	uc010zfg.1	-	201	39498	c.39274C>A	c.(39274-39276)CCA>ACA	p.P13092T	TTN_uc010zfh.1_Missense_Mutation_p.P6787T|TTN_uc010zfi.1_Missense_Mutation_p.P6720T|TTN_uc010zfj.1_Missense_Mutation_p.P6595T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14019							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)			TTACGTACTGGCCCAGGAACA	0.403		NA											22	67					1.28e-07	1.66e-07	1	0
TTN	7273	broad.mit.edu	37	2	179585700	179585700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179585700C>A	uc010zfg.1	-	76	19538	c.19314G>T	c.(19312-19314)GAG>GAT	p.E6438D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3099D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7365							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)			CATTATGAGCCTCACAAATGT	0.428		NA											8	74					1.13e-05	1.39e-05	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803441	185803441	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:185803441C>T	uc002uph.2	+	4	3912	c.3318C>T	c.(3316-3318)CAC>CAT	p.H1106H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1106						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						tgcagcagcacgctgcagctg	0.373		NA											14	93					0	0	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702117	187702117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187702117G>T	uc002upu.1	-	5	699	c.659C>A	c.(658-660)GCA>GAA	p.A220E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	220					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTTCTGCTGCAGCTACTAG	0.393		NA											25	58					5.45e-15	7.81e-15	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187703819	187703819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187703819G>T	uc002upu.1	-	4	401	c.361C>A	c.(361-363)CCA>ACA	p.P121T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	121					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTGTTCCTGGTTGGGGAGTT	0.403		NA											44	201					4.67e-22	6.94e-22	1	0
PMS1	5378	broad.mit.edu	37	2	190718963	190718963	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:190718963A>G	uc002urh.3	+	9	1496	c.967_splice	c.e9-2	p.E323_splice	PMS1_uc010zga.1_Splice_Site_p.E284_splice|PMS1_uc010zgb.1_Splice_Site_p.E262_splice|PMS1_uc002urk.3_Splice_Site_p.E284_splice|PMS1_uc002uri.3_Splice_Site_p.E323_splice|PMS1_uc010zgc.1_Splice_Site_p.E147_splice|PMS1_uc010zgd.1_Splice_Site_p.E147_splice|PMS1_uc002urj.2_Splice_Site|PMS1_uc010fry.1_Splice_Site_p.E284_splice|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Splice_Site_p.E108_splice|PMS1_uc002urm.2_Splice_Site|PMS1_uc002urn.1_Splice_Site	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a						mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATTTTTAGGAATCTGTT	0.219		NA	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					4	30					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196825534	196825534	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:196825534T>C	uc002utj.3	-	18	2442	c.2341A>G	c.(2341-2343)AGA>GGA	p.R781G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	781	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GTCCATGCTCTATAGTTGCTG	0.383		NA											32	122					0	0	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209207340	209207340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:209207340A>G	uc002vcz.2	+	32	5152	c.4994A>G	c.(4993-4995)AAG>AGG	p.K1665R		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1665					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GTCTGCGAGAAGGAACCCAGC	0.343		NA											10	51					0	0	0	0
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:210559961C>T	uc002vde.1	+	7	3315	c.3067C>T	c.(3067-3069)CCA>TCA	p.P1023S	MAP2_uc002vdc.1_Missense_Mutation_p.P1023S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P1019S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428		NA											6	38					0	0	0	0
ABCA12	26154	broad.mit.edu	37	2	215880266	215880266	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:215880266A>T	uc002vew.2	-	15	2124	c.1904T>A	c.(1903-1905)CTC>CAC	p.L635H	ABCA12_uc002vev.2_Missense_Mutation_p.L317H|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	635					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCCGATGAGGTAAGACTG	0.383		NA											5	27					0	0	0	0
COL6A3	1293	broad.mit.edu	37	2	238242141	238242141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:238242141T>C	uc002vwl.2	-	42	9565	c.9280A>G	c.(9280-9282)ACC>GCC	p.T3094A	COL6A3_uc002vwo.2_Missense_Mutation_p.T2888A|COL6A3_uc010znj.1_Missense_Mutation_p.T2487A|COL6A3_uc002vwj.2_Missense_Mutation_p.T475A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3094	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATTGATGGTTGAACTAGAA	0.423		NA											13	65					0	0	0	0
CSNK2A1	1457	broad.mit.edu	37	20	476380	476380	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:476380C>G	uc002wdw.1	-	8	886	c.493G>C	c.(493-495)GAT>CAT	p.D165H	CSNK2A1_uc002wdx.1_Missense_Mutation_p.D165H|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D29H	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	165	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGCTCATGATCAATCATGACA	0.378		NA											11	72					0	0	0	0
XRN2	22803	broad.mit.edu	37	20	21346226	21346226	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:21346226A>T	uc002wsf.1	+	26	2435	c.2340A>T	c.(2338-2340)GTA>GTT	p.V780V	XRN2_uc002wsg.1_Silent_p.V704V|XRN2_uc010zsk.1_Silent_p.V726V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	780					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						CAGCAGCAGTACTGAAACCTA	0.443		NA											19	68					0	0	0	0
TOX2	84969	broad.mit.edu	37	20	42695453	42695453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42695453G>T	uc002xlf.3	+	7	1403	c.1386G>T	c.(1384-1386)TGG>TGT	p.W462C	TOX2_uc010ggo.2_Missense_Mutation_p.W480C|TOX2_uc002xle.3_Missense_Mutation_p.W438C|TOX2_uc010ggp.2_Missense_Mutation_p.W438C|TOX2_uc002xlg.2_Missense_Mutation_p.W279C|TOX2_uc010zwk.1_Missense_Mutation_p.W358C	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGGGACTGGGACAGCAGCT	0.637		NA											38	148					4.67e-22	6.94e-22	1	0
FITM2	128486	broad.mit.edu	37	20	42935681	42935681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42935681G>A	uc002xlr.1	-	2	474	c.373C>T	c.(373-375)CCA>TCA	p.P125S		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	125	Extracellular (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						TCCAGGGCTGGGGACTGGTAG	0.597		NA											9	56					0	0	0	0
SYNJ1	8867	broad.mit.edu	37	21	34029187	34029187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:34029187C>T	uc002yqh.2	-	21	2722	c.2722G>A	c.(2722-2724)GAT>AAT	p.D908N	SYNJ1_uc011ads.1_Missense_Mutation_p.D864N|SYNJ1_uc002yqf.2_Missense_Mutation_p.D869N|SYNJ1_uc002yqg.2_Missense_Mutation_p.D864N|SYNJ1_uc002yqi.2_Missense_Mutation_p.D908N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	869	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TCAAATATATCTATATCAATC	0.343		NA											6	34					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47773909	47773909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47773909G>A	uc002zji.3	+	11	1795	c.1688G>A	c.(1687-1689)TGT>TAT	p.C563Y	PCNT_uc002zjj.2_Missense_Mutation_p.C445Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	563	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGGTTGTCCTGTGTGGGTTTA	0.493		NA											10	22					0	0	0	0
DIP2A	23181	broad.mit.edu	37	21	47931456	47931456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47931456C>T	uc002zjo.2	+	8	1214	c.1031C>T	c.(1030-1032)ACA>ATA	p.T344I	DIP2A_uc011afy.1_Missense_Mutation_p.T280I|DIP2A_uc011afz.1_Missense_Mutation_p.T340I|DIP2A_uc002zjl.2_Missense_Mutation_p.T344I|DIP2A_uc002zjm.2_Missense_Mutation_p.T344I|DIP2A_uc010gql.2_Missense_Mutation_p.T301I|DIP2A_uc002zjn.2_Missense_Mutation_p.T344I|DIP2A_uc002zjp.1_Missense_Mutation_p.T89I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	344					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTGGGGCACAACACAGCCC	0.582		NA											6	26					0	0	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868532	22868532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:22868532G>C	uc002zwe.2	-	2	1676	c.1423C>G	c.(1423-1425)CAA>GAA	p.Q475E	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTAAATGTTTGATGGTCCTTG	0.458		NA											27	83					0	0	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32479071G>A	uc003amc.2	+	7	826	c.594G>A	c.(592-594)GCG>GCA	p.A198A	SLC5A1_uc011alz.1_Silent_p.A71A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	198	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GGGGCCTGGCGGCGGTGATTT	0.572		NA											7	45					0	0	0	0
RFPL2	10739	broad.mit.edu	37	22	32587270	32587270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32587270C>A	uc003amg.3	-	5	1562	c.626G>T	c.(625-627)CGA>CTA	p.R209L	RFPL2_uc003ame.3_Missense_Mutation_p.R148L|RFPL2_uc003amf.3_Missense_Mutation_p.R119L|RFPL2_uc003amh.3_Missense_Mutation_p.R119L	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	209	B30.2/SPRY.						zinc ion binding			skin(1)	1						GCGCCCACTTCGGACGCTCCT	0.532		NA											24	94					2.22e-12	3.1e-12	1	0
CELSR1	9620	broad.mit.edu	37	22	46790128	46790128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:46790128C>A	uc003bhw.1	-	14	5875	c.5875G>T	c.(5875-5877)GGG>TGG	p.G1959W	CELSR1_uc011arc.1_Missense_Mutation_p.G280W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1959	Extracellular (Potential).|EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTTCCCCCACCAGCCT	0.572		NA											12	35					7.04e-09	9.43e-09	1	0
FBLN2	2199	broad.mit.edu	37	3	13670762	13670762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:13670762C>T	uc011avb.1	+	12	2796	c.2671C>T	c.(2671-2673)CAG>TAG	p.Q891*	FBLN2_uc011auz.1_Nonsense_Mutation_p.Q917*|FBLN2_uc011ava.1_Nonsense_Mutation_p.Q938*|FBLN2_uc011avc.1_Nonsense_Mutation_p.Q938*	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	891	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGCTTTCAGCGGGATGC	0.642		NA											7	18					0	0	0	0
C3orf23	285343	broad.mit.edu	37	3	44442777	44442777	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:44442777A>G	uc010him.2	+	10	1446	c.1201A>G	c.(1201-1203)ATT>GTT	p.I401V	C3orf23_uc003cnd.3_Missense_Mutation_p.I401V|C3orf23_uc003cne.3_Missense_Mutation_p.I257V	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	401						mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCAGTGGTTTATTCTCACCAA	0.393		NA											11	37					0	0	0	0
WNT5A	7474	broad.mit.edu	37	3	55513456	55513456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:55513456T>C	uc003dhn.2	-	3	595	c.277A>G	c.(277-279)ATC>GTC	p.I93V	WNT5A_uc003dhm.2_Missense_Mutation_p.I78V|WNT5A_uc010hmw.2_Missense_Mutation_p.I78V|WNT5A_uc010hmx.2_Missense_Mutation_p.I4V	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	93					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCTTCTCCGATGTACTGCATG	0.483		NA											31	81					0	0	0	0
ATXN7	6314	broad.mit.edu	37	3	63898838	63898838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:63898838G>A	uc003dlw.3	+	4	884	c.331G>A	c.(331-333)GAA>AAA	p.E111K	ATXN7_uc003dlv.2_Missense_Mutation_p.E111K|ATXN7_uc010hnv.2_Missense_Mutation_p.E111K	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	111					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTAGGGACAGAATTGGACGA	0.572		NA											8	25					0	0	0	0
SUCLG2	8801	broad.mit.edu	37	3	67571002	67571002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:67571002C>A	uc003dna.3	-	5	502	c.474G>T	c.(472-474)ATG>ATT	p.M158I	SUCLG2_uc010hob.2_Missense_Mutation_p.M39I	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	158	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AGGACCGGTCCATCAGAATTG	0.512		NA											15	80					1.02e-10	1.41e-10	1	0
EPHA3	2042	broad.mit.edu	37	3	89480488	89480488	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:89480488A>T	uc003dqy.2	+	13	2550	c.2325A>T	c.(2323-2325)CCA>CCT	p.P775P	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	775	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGATGACCCAGAAGCTGCTT	0.393		NA								TSP Lung(6;0.00050)			7	37					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031461C>T	uc003dxo.2	-	3	359	c.112G>A	c.(112-114)GAA>AAA	p.E38K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TCCATTTGTTCCATATTTGCG	0.418		NA											23	83					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109031510	109031510	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031510C>T	uc003dxo.2	-	3	310	c.63G>A	c.(61-63)GAG>GAA	p.E21E		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	21						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TCACACTTTCCTCATCATCTA	0.408		NA											15	79					0	0	0	0
FBXO40	51725	broad.mit.edu	37	3	121345686	121345686	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:121345686C>A	uc003eeg.2	+	4	2269	c.2059C>A	c.(2059-2061)CCC>ACC	p.P687T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	687					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.P687A(1)		ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CATGTGTCAGCCCCGTGAGCA	0.483		NA											25	91					3.08e-08	4.05e-08	1	0
IGSF10	285313	broad.mit.edu	37	3	151163676	151163676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:151163676T>A	uc011bod.1	-	4	4093	c.4093A>T	c.(4093-4095)AGT>TGT	p.S1365C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1365					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAGAACTCTGGTCTGGA	0.473		NA											51	303					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155200696	155200696	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:155200696T>G	uc011bok.1	-	23	3420	c.3143A>C	c.(3142-3144)CAC>CCC	p.H1048P	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.H1010P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1048					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTGACATGTGGGCAGTAGA	0.488		NA											24	90					0	0	0	0
SCHIP1	29970	broad.mit.edu	37	3	159606694	159606694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:159606694T>A	uc003fcs.1	+	6	1346	c.1280T>A	c.(1279-1281)CTA>CAA	p.L427Q	SCHIP1_uc003fcq.1_Missense_Mutation_p.L503Q|SCHIP1_uc003fcr.1_Missense_Mutation_p.L416Q|SCHIP1_uc003fct.1_Missense_Mutation_p.L414Q|SCHIP1_uc010hvz.1_Missense_Mutation_p.L387Q|SCHIP1_uc003fcu.1_Missense_Mutation_p.L184Q|SCHIP1_uc003fcv.1_Missense_Mutation_p.L200Q	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	427	Potential.					cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ATTGGGCAGCTACAAGTGATA	0.383		NA											6	54					0	0	0	0
ECT2	1894	broad.mit.edu	37	3	172480522	172480522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:172480522C>T	uc003fii.2	+	9	976	c.838C>T	c.(838-840)CTT>TTT	p.L280F	ECT2_uc010hwv.1_Missense_Mutation_p.L311F|ECT2_uc003fih.2_Missense_Mutation_p.L279F|ECT2_uc003fij.1_Missense_Mutation_p.L280F|ECT2_uc003fik.1_Missense_Mutation_p.L280F|ECT2_uc003fil.1_Missense_Mutation_p.L311F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	280	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCACTCACCTTGTAGTTGA	0.348		NA											10	37					0	0	0	0
GABRB1	2560	broad.mit.edu	37	4	47163453	47163453	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:47163453T>C	uc003gxh.2	+	4	802	c.428T>C	c.(427-429)CTG>CCG	p.L143P	GABRB1_uc011bze.1_Missense_Mutation_p.L73P	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	143	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGATTCGACTGCATCCTGAT	0.388		NA											18	92					0	0	0	0
C4orf7	260436	broad.mit.edu	37	4	71096932	71096932	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:71096932G>A	uc003hfd.2	+	2	106	c.21G>A	c.(19-21)CTG>CTA	p.L7L		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	chromosome 4 open reading frame 7 precursor	7						extracellular region				central_nervous_system(1)	1						TTCTCCTCCTGATCACAGCCA	0.303		NA											14	87					0	0	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414622	85414622	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:85414622C>G	uc003hpa.1	-	3	930	c.924G>C	c.(922-924)TCG>TCC	p.S308S		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	308	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCTCTGTCTCCGAGTCCTGCT	0.597		NA											40	67					0	0	0	0
ALPK1	80216	broad.mit.edu	37	4	113356374	113356374	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:113356374G>T	uc003iap.3	+	12	3384	c.3105G>T	c.(3103-3105)GGG>GGT	p.G1035G	ALPK1_uc003ian.3_Silent_p.G1035G|ALPK1_uc011cfx.1_Silent_p.G957G|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Silent_p.G863G	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1035	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTATTTGGGGGACTACTTGA	0.348		NA											42	127					6.34e-27	9.52e-27	1	0
ANK2	287	broad.mit.edu	37	4	114163318	114163318	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:114163318G>C	uc003ibe.3	+	9	944	c.844G>C	c.(844-846)GTG>CTG	p.V282L	ANK2_uc003ibd.3_Missense_Mutation_p.V261L|ANK2_uc003ibf.3_Missense_Mutation_p.V282L|ANK2_uc003ibc.2_Missense_Mutation_p.V258L|ANK2_uc011cgb.1_Missense_Mutation_p.V297L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	282	ANK 8.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAACATGGTGAAGCTCTT	0.438		NA											13	32					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:155249332G>A	uc003inw.2	-	12	2566	c.2566C>T	c.(2566-2568)CAA>TAA	p.Q856*	DCHS2_uc003inx.2_Nonsense_Mutation_p.Q1311*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	856	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333		NA											20	37					0	0	0	0
TLL1	7092	broad.mit.edu	37	4	166916211	166916211	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:166916211A>G	uc003irh.1	+	5	1162	c.515_splice	c.e5-2	p.G172_splice	TLL1_uc011cjn.1_Splice_Site_p.G172_splice|TLL1_uc011cjo.1_Splice_Site	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTTTCTAGGCAGCCAGA	0.458		NA											26	63					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24511436	24511436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:24511436C>A	uc003jgr.1	-	6	1334	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	334	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403		NA								HNSCC(23;0.051)			21	78					5.26e-13	7.43e-13	1	0
LIFR	3977	broad.mit.edu	37	5	38486030	38486030	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:38486030C>T	uc010ive.1	-	17	2720	c.2388G>A	c.(2386-2388)CTG>CTA	p.L796L	LIFR_uc003jli.2_Silent_p.L796L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	796	Fibronectin type-III 6.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					CAGCAATTCTCAGTGTCTTCT	0.398		NA	T	PLAG1	salivary adenoma								9	44					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061778	41061778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:41061778C>A	uc003jmj.3	-	6	999	c.509G>T	c.(508-510)AGA>ATA	p.R170I		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	170							binding			ovary(6)|central_nervous_system(2)	8						GGGAAAATCTCTCCAGTGGTT	0.458		NA											22	79					4.35e-09	5.86e-09	1	0
MCTP1	79772	broad.mit.edu	37	5	94259701	94259701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:94259701C>T	uc003kkx.2	-	7	1238	c.1238G>A	c.(1237-1239)GGA>GAA	p.G413E	MCTP1_uc003kkv.2_Missense_Mutation_p.G192E|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.G74E|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	413					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAATAAGATCCAACCACTTC	0.269		NA											3	25					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958005	128958005	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:128958005T>C	uc003kvb.1	+	10	1716	c.1716T>C	c.(1714-1716)CTT>CTC	p.L572L	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	572	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCAGATCCTTTTTGGGCCAT	0.448		NA											7	25					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070697	129070697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:129070697G>T	uc003kvb.1	+	22	3367	c.3367G>T	c.(3367-3369)GGA>TGA	p.G1123*	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGAAGACATGGAAATGAATG	0.408		NA											23	46					1.55e-16	2.26e-16	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262292	140262292	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140262292C>A	uc003lif.2	+	1	439	c.439C>A	c.(439-441)CCT>ACT	p.P147T	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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P147T|PCDHA13_uc003lid.2_Missense_Mutation_p.P147T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCTAGACCTCCGGAAAC	0.463		NA											25	74					2.22e-12	3.1e-12	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346697	140346697	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140346697C>G	uc003lii.2	+	1	586	c.346C>G	c.(346-348)CGC>GGC	p.R116G	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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R116G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	116	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCGGCCTCGCTGCCTGCT	0.637		NA											13	37					0	0	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712526	140712526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140712526C>A	uc003lji.1	+	1	2275	c.2275C>A	c.(2275-2277)CTC>ATC	p.L759I	PCDHGA1_uc011dan.1_Missense_Mutation_p.L759I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	759	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACTGCGGA	0.592		NA											38	137					1.32e-16	1.92e-16	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720341	140720341	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140720341C>T	uc003ljk.1	+	1	1988	c.1803C>T	c.(1801-1803)AAC>AAT	p.N601N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.N601N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	601	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692		NA											26	113					0	0	0	0
TCERG1	10915	broad.mit.edu	37	5	145838779	145838779	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:145838779A>G	uc003lob.2	+	4	811	c.771A>G	c.(769-771)GGA>GGG	p.G257G	TCERG1_uc003loc.2_Silent_p.G257G|TCERG1_uc011dbt.1_Silent_p.G257G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	257	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGTTGGAGCTTCCACCC	0.318		NA											3	115					0	0	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:348139C>T	uc003msx.2	+	6	739	c.300C>T	c.(298-300)ATC>ATT	p.I100I	DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607		NA											6	238					0	0	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158752	26158752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:26158752G>T	uc003ngr.2	+	1	404	c.355G>T	c.(355-357)GTC>TTC	p.V119F	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V119F	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						CACCAAGGCCGTCACCAAGTA	0.552		NA											23	68					2.22e-12	3.1e-12	1	0
OR2W1	26692	broad.mit.edu	37	6	29012922	29012922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:29012922C>T	uc003nlw.2	-	1	31	c.31G>A	c.(31-33)GGT>AGT	p.G11S		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGAATAAAACCATGTAAAGAA	0.318		NA											15	41					0	0	0	0
C6orf138	442213	broad.mit.edu	37	6	48036085	48036085	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:48036085A>T	uc011dwm.1	-	1	341	c.256T>A	c.(256-258)TCG>ACG	p.S86T	C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.S103T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	103						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TGTAAGTCCGAATAGAGCTGG	0.627		NA											22	87					0	0	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604606	62604606	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62604606C>A	uc003peg.2	-	6	991	c.744G>T	c.(742-744)CGG>CGT	p.R248R		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	248	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGGTGCCCCCCGGGCTCGAG	0.552		NA											17	47					2e-07	2.56e-07	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62887094	62887094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62887094G>T	uc003peg.2	-	2	462	c.215C>A	c.(214-216)CCA>CAA	p.P72Q		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGTACCTTTGGATACTGCTT	0.279		NA											5	26					0.00116845	0.00131489	1	0
BAI3	577	broad.mit.edu	37	6	69349246	69349246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69349246G>T	uc003pev.3	+	3	1127	c.679G>T	c.(679-681)GAG>TAG	p.E227*	BAI3_uc010kak.2_Nonsense_Mutation_p.E227*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	227	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGAGCAGACAGAGGGCTGCCT	0.532		NA											6	36					0.00116845	0.00131489	1	0
BAI3	577	broad.mit.edu	37	6	69684742	69684742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69684742C>T	uc003pev.3	+	9	2061	c.1613C>T	c.(1612-1614)CCC>CTC	p.P538L	BAI3_uc010kak.2_Missense_Mutation_p.P538L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	538	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AATCAATGTCCCCTGAATGCC	0.443		NA											13	33					0	0	0	0
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:116288845G>A	uc003pwi.1	-	4	1115	c.668C>T	c.(667-669)ACC>ATC	p.T223I		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388		NA											13	53					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129762020	129762020	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:129762020A>G	uc003qbn.2	+	43	6250	c.6145A>G	c.(6145-6147)AAA>GAA	p.K2049E	LAMA2_uc003qbo.2_Missense_Mutation_p.K2049E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2049	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGACACAGCTAAAGATGTACT	0.453		NA											7	47					0	0	0	0
ENPP1	5167	broad.mit.edu	37	6	132206176	132206176	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:132206176G>C	uc011ecf.1	+	23	2437	c.2417G>C	c.(2416-2418)CGT>CCT	p.R806P		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	806	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATGATGGACGTTGTGATTCC	0.398		NA											8	38					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	145157526	145157526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:145157526C>G	uc003qkt.2	+	70	10006	c.9914C>G	c.(9913-9915)CCC>CGC	p.P3305R		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3305					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTATATCTCCCCATCACACG	0.502		NA											29	125					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152655143	152655143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152655143C>G	uc010kiw.2	-	77	13396	c.12794G>C	c.(12793-12795)AGA>ACA	p.R4265T	SYNE1_uc003qot.3_Missense_Mutation_p.R4194T|SYNE1_uc003qou.3_Missense_Mutation_p.R4265T|SYNE1_uc010kiz.2_Missense_Mutation_p.R20T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265	Cytoplasmic (Potential).|Spectrin 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTGTTACCTGGCCAAGTT	0.318		NA								HNSCC(10;0.0054)			16	82					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152674536	152674536	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152674536C>T	uc010kiw.2	-	69	11717	c.11115G>A	c.(11113-11115)CAG>CAA	p.Q3705Q	SYNE1_uc003qot.3_Silent_p.Q3690Q|SYNE1_uc003qou.3_Silent_p.Q3705Q|SYNE1_uc010kja.1_Silent_p.Q410Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3705	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCAAACTCTGAATCTCCT	0.388		NA								HNSCC(10;0.0054)			9	44					0	0	0	0
UNC93A	54346	broad.mit.edu	37	6	167708043	167708043	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:167708043G>T	uc003qvq.2	+	2	301	c.126G>T	c.(124-126)GCG>GCT	p.A42A	UNC93A_uc003qvr.2_Silent_p.A42A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	42	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTCACAGCGCTCAGCACCC	0.617		NA											102	114					3.71e-49	5.62e-49	1	0
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:11514030C>A	uc003ssf.3	-	8	2435	c.2183G>T	c.(2182-2184)TGC>TTC	p.C728F		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507		NA								HNSCC(18;0.044)			13	57					7.04e-09	9.43e-09	1	0
CDCA7L	55536	broad.mit.edu	37	7	21942677	21942677	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:21942677C>A	uc010kuk.2	-	9	1373	c.1253G>T	c.(1252-1254)CGT>CTT	p.R418L	CDCA7L_uc003sve.3_Missense_Mutation_p.R384L|CDCA7L_uc010kul.2_Missense_Mutation_p.R372L|CDCA7L_uc003svf.3_Missense_Mutation_p.R417L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						GCGGCCGTCACGCTTCCGACA	0.493		NA											9	39					0.000442599	0.000507443	1	0
NFE2L3	9603	broad.mit.edu	37	7	26217588	26217588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26217588A>G	uc003sxq.2	+	2	868	c.596A>G	c.(595-597)CAC>CGC	p.H199R		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	199					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						AGAGAAAAGCACGAAGCTGTG	0.393		NA											12	58					0	0	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236079	26236079	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26236079T>G	uc003sxr.3	-	7	852	c.636A>C	c.(634-636)TCA>TCC	p.S212S	HNRNPA2B1_uc003sxs.3_Silent_p.S200S	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	212	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CGCCACCACGTGAATCCCCAA	0.408		NA	T	ETV1	prostate								18	66					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38530673	38530673	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38530673G>T	uc003tgu.2	-	5	442	c.373C>A	c.(373-375)CTG>ATG	p.L125M	AMPH_uc003tgv.2_Missense_Mutation_p.L125M	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	125	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AATTGCCCCAGGTAGGTATCC	0.413		NA											33	155					3.76e-14	5.36e-14	1	0
POM121L12	285877	broad.mit.edu	37	7	53103954	53103954	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:53103954G>T	uc003tpz.2	+	1	606	c.590G>T	c.(589-591)TGG>TTG	p.W197L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	197											0						GGGCCGTTGTGGTTCGAGGTC	0.622		NA											15	71					0.000219431	0.000256404	1	0
PCLO	27445	broad.mit.edu	37	7	82585852	82585852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:82585852C>T	uc003uhx.2	-	5	4706	c.4417G>A	c.(4417-4419)GAA>AAA	p.E1473K	PCLO_uc003uhv.2_Missense_Mutation_p.E1473K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1404					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTCCTTTCTTCTTGACTCTCT	0.363		NA											9	47					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86468529	86468529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:86468529G>T	uc003uid.2	+	4	2798	c.1699G>T	c.(1699-1701)GAG>TAG	p.E567*	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.E439*|GRM3_uc010leh.2_Nonsense_Mutation_p.E159*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	567	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGACCTTCCTGAGGACTACAT	0.498		NA											15	91					7.93e-07	1e-06	1	0
ABCB1	5243	broad.mit.edu	37	7	87135257	87135257	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:87135257G>C	uc003uiz.1	-	28	4010	c.3592C>G	c.(3592-3594)CTT>GTT	p.L1198V	ABCB1_uc011khc.1_Missense_Mutation_p.L1134V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1198	Cytoplasmic (Potential).|ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCATCCAAAAGCAAAATATGA	0.418		NA											10	36					0	0	0	0
MGC26647	219557	broad.mit.edu	37	7	88423800	88423800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:88423800C>A	uc003ujv.2	-	2	639	c.457G>T	c.(457-459)GTT>TTT	p.V153F	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	153											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			ATAACTGGAACTTTTATCACT	0.348		NA											12	58					6.4e-05	7.66e-05	1	0
AKAP9	10142	broad.mit.edu	37	7	91671405	91671405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:91671405G>T	uc003ulg.2	+	19	5188	c.4963G>T	c.(4963-4965)GTG>TTG	p.V1655L	AKAP9_uc003ulf.2_Missense_Mutation_p.V1655L|AKAP9_uc003uli.2_Missense_Mutation_p.V1280L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1667					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGAGAGAGGGTGCTTTTAGA	0.423		NA	T	BRAF	papillary thyroid								9	37					2.74e-10	3.76e-10	1	0
CASD1	64921	broad.mit.edu	37	7	94146967	94146967	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:94146967A>T	uc003uni.3	+	2	456	c.229A>T	c.(229-231)AGT>TGT	p.S77C	CASD1_uc003unh.2_Missense_Mutation_p.S77C|CASD1_uc003unj.3_Missense_Mutation_p.S77C	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	77						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACAAAATCAGGTAACATTT	0.378		NA											5	44					0	0	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281723	100281723	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:100281723C>G	uc003uwg.1	-	15	2797	c.1788G>C	c.(1786-1788)CCG>CCC	p.P596P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	596	Poly-Pro.|Gln-rich.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGTGGTGGCGGTGTCAGGT	0.687		NA											11	41					0	0	0	0
PMPCB	9512	broad.mit.edu	37	7	102952105	102952105	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:102952105A>T	uc003vbl.2	+	10	1204	c.1170A>T	c.(1168-1170)ACA>ACT	p.T390T	PMPCB_uc003vbk.1_Silent_p.T390T|PMPCB_uc003vbm.2_Silent_p.T299T|PMPCB_uc010liv.2_Silent_p.T296T|PMPCB_uc010liw.2_Intron|PMPCB_uc011kll.1_Silent_p.T285T|PMPCB_uc011klm.1_Silent_p.T265T	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	390					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						GACTCTGTACAAGTGTCACAG	0.363		NA											5	33					0	0	0	0
RELN	5649	broad.mit.edu	37	7	103179743	103179743	+	Missense_Mutation	SNP	G	G	T	rs116065504	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:103179743G>T	uc003vca.2	-	45	7122	c.6962C>A	c.(6961-6963)ACG>AAG	p.T2321K	RELN_uc010liz.2_Missense_Mutation_p.T2321K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T2321T(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAGACCGTATTACCAGA	0.393		NA											7	29					0.00198382	0.00221492	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518605	113518605	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:113518605A>G	uc010ljy.1	-	4	2573	c.2542T>C	c.(2542-2544)TCC>CCC	p.S848P		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	848					glycogen metabolic process	integral to membrane		p.S848Y(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ACCCATGAGGATTCTTCCACA	0.373		NA											3	127					0	0	0	0
IQUB	154865	broad.mit.edu	37	7	123097469	123097469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:123097469G>A	uc003vkn.2	-	12	2736	c.2159C>T	c.(2158-2160)GCA>GTA	p.A720V	IQUB_uc011kny.1_Missense_Mutation_p.A53V|IQUB_uc003vko.2_Missense_Mutation_p.A720V|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720										ovary(3)|large_intestine(1)	4						ATGAGCAGCTGCTTCATCTTT	0.403		NA											8	86					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126173059	126173059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:126173059T>C	uc003vlr.2	-	8	2688	c.2377A>G	c.(2377-2379)ATT>GTT	p.I793V	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I793V|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	793	Helical; Name=6; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTAACCAAATGATGCAGGTG	0.398		NA								HNSCC(24;0.065)			6	34					0	0	0	0
PAX4	5078	broad.mit.edu	37	7	127253104	127253104	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:127253104C>T	uc010lld.1	-	6	869	c.663G>A	c.(661-663)GAG>GAA	p.E221E	PAX4_uc003vmf.2_Silent_p.E219E|PAX4_uc003vmg.1_Silent_p.E221E|PAX4_uc003vmh.2_Silent_p.E219E	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	229	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACTTGAGCTTCTCTTGCCGAC	0.448		NA											13	68					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141765147	141765147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141765147G>T	uc003vwy.2	+	38	4551	c.4497G>T	c.(4495-4497)GAG>GAT	p.E1499D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1499	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTGCAGGAGGTGACGGGAC	0.612		NA											9	14					0.00010058	0.000118665	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259327	147259327	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:147259327G>T	uc003weu.1	+	12	2391	c.1875G>T	c.(1873-1875)CTG>CTT	p.L625L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	625	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGGCCTCTGAAAGTTTACT	0.408		NA								HNSCC(39;0.1)			6	56					6.55e-12	9.13e-12	1	0
LONRF1	91694	broad.mit.edu	37	8	12583338	12583338	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:12583338A>T	uc003wwd.1	-	11	2124	c.2061T>A	c.(2059-2061)GTT>GTA	p.V687V	LONRF1_uc011kxv.1_Silent_p.V276V|LONRF1_uc010lsp.1_Silent_p.V287V	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	687	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		CTTGAGAGTAAACCAAATCAT	0.413		NA											4	33					0	0	0	0
SGCZ	137868	broad.mit.edu	37	8	14095184	14095184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:14095184C>A	uc003wwq.2	-	4	1001	c.341G>T	c.(340-342)AGT>ATT	p.S114I	SGCZ_uc010lss.2_Missense_Mutation_p.S67I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	101	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GACCAGCGGACTATCCTGGGA	0.353		NA											56	162					1.52e-15	2.19e-15	1	0
TACC1	6867	broad.mit.edu	37	8	38688648	38688648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:38688648G>A	uc010lwp.2	+	6	2045	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K	TACC1_uc011lby.1_Missense_Mutation_p.E361K|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Missense_Mutation_p.E361K|TACC1_uc003xmc.3_Missense_Mutation_p.E360K|TACC1_uc011lbz.1_Missense_Mutation_p.E543K|TACC1_uc003xmb.3_Missense_Mutation_p.E482K|TACC1_uc003xme.1_Missense_Mutation_p.E130K|TACC1_uc003xmd.1_Missense_Mutation_p.E118K|TACC1_uc010lwo.1_Missense_Mutation_p.E89K|TACC1_uc003xmf.3_Missense_Mutation_p.E146K|TACC1_uc011lca.1_Missense_Mutation_p.E539K|TACC1_uc011lcb.1_Missense_Mutation_p.E332K|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.E373K|TACC1_uc010lwq.2_Missense_Mutation_p.E373K	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	556					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGGCATAGAGAAGGAGAC	0.483		NA											9	29					0	0	0	0
ANK1	286	broad.mit.edu	37	8	41552254	41552254	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:41552254C>T	uc003xok.2	-	28	3267	c.3183G>A	c.(3181-3183)CTG>CTA	p.L1061L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.L377L|ANK1_uc003xoi.2_Silent_p.L1061L|ANK1_uc003xoj.2_Silent_p.L1061L|ANK1_uc003xol.2_Silent_p.L1061L|ANK1_uc003xom.2_Silent_p.L1102L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1061					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L1061V(1)		ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACGAAGTACAGCGGGAAGT	0.607		NA											8	31					0	0	0	0
NCOA2	10499	broad.mit.edu	37	8	71037031	71037031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:71037031C>A	uc003xyn.1	-	20	4148	c.3986G>T	c.(3985-3987)CGA>CTA	p.R1329L	NCOA2_uc011lfb.1_Missense_Mutation_p.R417L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1329					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTGCCATTCGGGGTGACAT	0.512		NA	T	RUNXBP2	AML								48	75					1.52e-22	2.27e-22	1	0
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:74922334G>C	uc003yad.2	+	3	392	c.301G>C	c.(301-303)GAT>CAT	p.D101H		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	101					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313		NA											8	46					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457455	110457455	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:110457455A>T	uc003yne.2	+	38	5461	c.5357A>T	c.(5356-5358)CAA>CTA	p.Q1786L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1786	Extracellular (Potential).|IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGAAATCAACAGTTCAGA	0.413		NA								HNSCC(38;0.096)			26	58					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113317099	113317099	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113317099C>A	uc003ynu.2	-	52	8276	c.8117G>T	c.(8116-8118)AGA>ATA	p.R2706I	CSMD3_uc003yns.2_Missense_Mutation_p.R1908I|CSMD3_uc003ynt.2_Missense_Mutation_p.R2666I|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2706	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATTCGCCATCTTCCATGTTC	0.393		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	28					0.00909568	0.00982103	1	0
CSMD3	114788	broad.mit.edu	37	8	113364743	113364743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113364743G>T	uc003ynu.2	-	39	6316	c.6157C>A	c.(6157-6159)CCT>ACT	p.P2053T	CSMD3_uc003yns.2_Missense_Mutation_p.P1255T|CSMD3_uc003ynt.2_Missense_Mutation_p.P2013T|CSMD3_uc011lhx.1_Missense_Mutation_p.P1949T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2053	Extracellular (Potential).|Sushi 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGTGGTTCAGGACAGGAATCC	0.323		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	68					1.36e-06	1.71e-06	1	0
ATAD2	29028	broad.mit.edu	37	8	124349867	124349867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:124349867C>T	uc003yqh.3	-	21	3157	c.3049G>A	c.(3049-3051)GAG>AAG	p.E1017K	ATAD2_uc011lii.1_Missense_Mutation_p.E808K|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1017	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTAATACCTCATCAGGGTCA	0.363		NA											8	40					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139601515	139601515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:139601515C>A	uc003yvd.2	-	65	5309	c.4862G>T	c.(4861-4863)GGT>GTT	p.G1621V	COL22A1_uc011ljo.1_Missense_Mutation_p.G901V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1621					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACATTACCCGGCCGGGC	0.587		NA								HNSCC(7;0.00092)			6	51					0.00116845	0.00131489	1	0
FAM83H	286077	broad.mit.edu	37	8	144812599	144812599	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:144812599C>T	uc003yzk.2	-	2	223	c.154G>A	c.(154-156)GCA>ACA	p.A52T	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	52					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCTGGTGCCCCCTCGGTA	0.627		NA											26	64					0	0	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325656	79325656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:79325656A>G	uc010mpk.2	-	8	1658	c.1534T>C	c.(1534-1536)TCT>CCT	p.S512P		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	512					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TAGTCTGCAGAATGAGAAGAT	0.547		NA											20	26					0	0	0	0
C9orf89	84270	broad.mit.edu	37	9	95872917	95872917	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:95872917G>T	uc004atd.2	+	3	396	c.218G>T	c.(217-219)GGT>GTT	p.G73V	C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	73	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding				0						CAGCGGAGCGGTGAGCGGGAC	0.502		NA											46	72					1.47e-37	2.21e-37	1	0
GRIN3A	116443	broad.mit.edu	37	9	104448969	104448969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:104448969T>C	uc004bbp.1	-	2	1814	c.1213A>G	c.(1213-1215)ATG>GTG	p.M405V	GRIN3A_uc004bbq.1_Missense_Mutation_p.M405V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	405	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTTGGATCATGGTGGCTGTG	0.468		NA											25	27					0	0	0	0
DEC1	50514	broad.mit.edu	37	9	118162697	118162697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:118162697G>T	uc004bjk.1	+	6	592	c.73G>T	c.(73-75)GTG>TTG	p.V25L	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	25					negative regulation of cell proliferation					ovary(1)	1						ccttcttgccgtgttacacat	0		NA											16	75					1.15e-07	1.49e-07	1	0
DNM1	1759	broad.mit.edu	37	9	131001792	131001792	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:131001792C>T	uc011mau.1	+	12	1578	c.1491C>T	c.(1489-1491)GCC>GCT	p.A497A	DNM1_uc010mxr.2_Silent_p.A497A|DNM1_uc011mat.1_Silent_p.A497A|DNM1_uc004bub.1_5'Flank|DNM1_uc004buc.1_5'Flank|DNM1_uc004bud.3_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	497					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						TAGGCTTTGCCAAGTGAGTGC	0.398		NA											144	202					0	0	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134503939	134503939	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:134503939C>T	uc004cbc.2	-	8	1093	c.963G>A	c.(961-963)AGG>AGA	p.R321R	RAPGEF1_uc004cbb.2_Silent_p.R339R|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Silent_p.R326R|RAPGEF1_uc004cbd.2_Silent_p.R326R	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	321					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCATTACCTGCCTATTGATTC	0.612		NA											13	31					0	0	0	0
LHX3	8022	broad.mit.edu	37	9	139090618	139090618	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:139090618C>A	uc004cha.2	-	5	752	c.655G>T	c.(655-657)GCC>TCC	p.A219S	LHX3_uc004cgz.2_Missense_Mutation_p.A224S	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	219					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGCCGGCCGGCGTCCTTCTTC	0.706		NA											17	79					9.17e-09	1.23e-08	1	0
EHMT1	79813	broad.mit.edu	37	9	140611505	140611505	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:140611505G>A	uc011mfc.1	+	3	550	c.513G>A	c.(511-513)ACG>ACA	p.T171T	EHMT1_uc004coa.2_Silent_p.T171T|EHMT1_uc004cob.1_Silent_p.T140T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	171					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTCCCCAGACGCCAGCCGCCC	0.662		NA											36	47					0	0	0	0
WWC3	55841	broad.mit.edu	37	X	10096607	10096607	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:10096607C>T	uc004csx.3	+	17	2489	c.2291C>T	c.(2290-2292)ACG>ATG	p.T764M	WWC3_uc010nds.2_Missense_Mutation_p.T428M|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	764	Potential.									ovary(4)	4						GATGCGGTGACGGTGCTCCTG	0.667		NA											4	24					0	0	0	0
PHKA2	5256	broad.mit.edu	37	X	18919705	18919705	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:18919705G>T	uc004cyv.3	-	27	3355	c.2925C>A	c.(2923-2925)TCC>TCA	p.S975S	PHKA2_uc004cyu.3_Silent_p.S273S|PHKA2_uc010nfe.1_Silent_p.S25S|PHKA2_uc010nff.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TGGATGTGGAGGAGTGGATAG	0.557		NA											11	41					4.69e-08	6.13e-08	1	0
PHEX	5251	broad.mit.edu	37	X	22129609	22129609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:22129609G>C	uc004dah.2	+	10	1307	c.1104G>C	c.(1102-1104)TGG>TGC	p.W368C	PHEX_uc011mjr.1_Missense_Mutation_p.W368C|PHEX_uc011mjs.1_Missense_Mutation_p.W271C	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	368	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ATTTGGTGTGGAGAATGGTTT	0.398		NA											42	201					0	0	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765882	27765882	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:27765882G>T	uc011mjy.1	+	1	957	c.870G>T	c.(868-870)ATG>ATT	p.M290I		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2						CTCTGGCCATGTGTGCCCGTG	0.502		NA											8	23					0.00307968	0.00342499	1	0
NR0B1	190	broad.mit.edu	37	X	30327463	30327463	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:30327463G>A	uc004dcf.3	-	1	33	c.18C>T	c.(16-18)CAC>CAT	p.H6H		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	6	4 X 67 AA tandem repeats.|1.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGCCACTGGTGGTTCTCGC	0.662		NA											6	14					0	0	0	0
FAM47B	170062	broad.mit.edu	37	X	34962805	34962805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:34962805C>G	uc004ddi.1	+	1	1875	c.1857C>G	c.(1855-1857)GAC>GAG	p.D619E		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	619										ovary(3)|breast(1)	4						GGACTTACGACTCTGTTAAGA	0.403		NA											29	162					0	0	0	0
CXorf22	170063	broad.mit.edu	37	X	35990013	35990013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:35990013T>C	uc004ddj.2	+	13	2244	c.2185T>C	c.(2185-2187)TCC>CCC	p.S729P	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	729										large_intestine(1)|lung(1)|ovary(1)	3						ATCAGAACCATCCACTCCACA	0.323		NA											3	12					0	0	0	0
FAM47C	442444	broad.mit.edu	37	X	37026701	37026701	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:37026701G>T	uc004ddl.1	+	1	232	c.218G>T	c.(217-219)CGT>CTT	p.R73L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	73										ovary(3)	3						GTTTGTCGCCGTGACGAGTTT	0.527		NA											23	80					1.23e-08	1.64e-08	1	0
USP9X	8239	broad.mit.edu	37	X	41031206	41031206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:41031206C>G	uc004dfb.2	+	21	3776	c.3143C>G	c.(3142-3144)CCG>CGG	p.P1048R	USP9X_uc004dfc.2_Missense_Mutation_p.P1048R	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1048					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AAACTTATGCCGCCAGGTAAG	0.388		NA											8	68					0	0	0	0
ZNF157	7712	broad.mit.edu	37	X	47272115	47272115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47272115G>C	uc004dhr.1	+	4	712	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	215					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCACACAGGGGAGAGGCCCTT	0.443		NA											13	38					0	0	0	0
UXT	8409	broad.mit.edu	37	X	47516687	47516687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47516687G>A	uc004din.2	-	5	307	c.251C>T	c.(250-252)CCA>CTA	p.P84L	UXT_uc004dim.2_Missense_Mutation_p.P96L|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_004182	NP_004173	Q9UBK9	UXT_HUMAN	ubiquitously-expressed transcript isoform 2	84					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding				0						TGAAGTATCTGGGCTGAGGAA	0.333		NA											6	14					0	0	0	0
ZNF182	7569	broad.mit.edu	37	X	47836067	47836067	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47836067G>C	uc004dir.2	-	7	1765	c.1419C>G	c.(1417-1419)CTC>CTG	p.L473L	ZNF182_uc004dis.2_Silent_p.L454L|ZNF182_uc004dit.2_Silent_p.L473L|ZNF182_uc011mlu.1_Silent_p.L453L	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	473	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GATGCAGCATGAGGTAGGACT	0.393		NA											9	59					0	0	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418232	48418232	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48418232G>A	uc004dka.1	+	6	1047	c.936G>A	c.(934-936)CGG>CGA	p.R312R	TBC1D25_uc011mly.1_Silent_p.R254R|TBC1D25_uc004dkb.1_Silent_p.R58R|TBC1D25_uc011mlz.1_Silent_p.R58R|TBC1D25_uc011mma.1_Silent_p.R58R|TBC1D25_uc004dkc.1_Silent_p.R58R|TBC1D25_uc011mmb.1_Silent_p.R316R|TBC1D25_uc011mmc.1_Silent_p.R58R|TBC1D25_uc011mmd.1_Silent_p.R58R	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	312	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1						CACATCTACGGGCGCTGCACG	0.622		NA											9	37					0	0	0	0
HDAC6	10013	broad.mit.edu	37	X	48681334	48681334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48681334G>T	uc011mmi.1	+	25	2620	c.2525G>T	c.(2524-2526)AGA>ATA	p.R842I	HDAC6_uc004dks.1_Missense_Mutation_p.R842I|HDAC6_uc010nig.1_Missense_Mutation_p.R690I|HDAC6_uc004dkt.1_Missense_Mutation_p.R842I|HDAC6_uc011mmk.1_Missense_Mutation_p.R823I|HDAC6_uc004dkv.1_Missense_Mutation_p.R490I|HDAC6_uc004dkw.1_Missense_Mutation_p.R490I|HDAC6_uc004dkx.1_Missense_Mutation_p.R205I	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	842					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GTAGAAGACAGAGAAGGACCC	0.562		NA											5	48					1.24e-05	1.52e-05	1	0
MAGIX	79917	broad.mit.edu	37	X	49021378	49021378	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49021378G>T	uc010nin.1	+	4	504	c.457G>T	c.(457-459)GTG>TTG	p.V153L	MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.V94L|MAGIX_uc004dmw.2_Missense_Mutation_p.V86L	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	153	PDZ.										0						TCCGCTGGCCGTGCGCGGGCT	0.632		NA											27	96					6.33e-13	8.92e-13	1	0
CACNA1F	778	broad.mit.edu	37	X	49065125	49065125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49065125G>T	uc004dnb.2	-	43	5068	c.5006C>A	c.(5005-5007)CCC>CAC	p.P1669H	CACNA1F_uc010nip.2_Missense_Mutation_p.P1658H	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1669	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GCGAGCTGAGGGCTGGGAGAC	0.562		NA											12	65					4.37e-10	5.96e-10	1	0
AKAP4	8852	broad.mit.edu	37	X	49961630	49961630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49961630G>C	uc004dow.1	-	4	312	c.188C>G	c.(187-189)TCC>TGC	p.S63C	AKAP4_uc004dov.1_Missense_Mutation_p.S54C|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Missense_Mutation_p.S54C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	63					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTCTGAGCTGGAACTAGCAGC	0.418		NA											15	63					0	0	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376870	50376870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:50376870G>C	uc004dpe.2	-	4	2229	c.2203C>G	c.(2203-2205)CAG>GAG	p.Q735E	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.Q619E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	735					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					ACAAGTGGCTGTGAATTATGC	0.542		NA											14	54					0	0	0	0
GNL3L	54552	broad.mit.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:54577458G>T	uc004dth.1	+	10	977	c.838G>T	c.(838-840)GTG>TTG	p.V280L	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	280	G.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CGCATGCAGCGTGGGAGCTGT	0.557		NA											7	44					5.18e-06	6.43e-06	1	0
USP51	158880	broad.mit.edu	37	X	55513447	55513447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55513447A>T	uc004dun.1	-	2	2005	c.1926T>A	c.(1924-1926)TGT>TGA	p.C642*	USP51_uc011moo.1_Nonsense_Mutation_p.C346*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CATTGGGCACACAATCTGTTG	0.443		NA											3	32					0	0	0	0
RRAGB	10325	broad.mit.edu	37	X	55784705	55784705	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55784705C>A	uc004dup.2	+	11	1705	c.1054C>A	c.(1054-1056)CGC>AGC	p.R352S	RRAGB_uc004duq.2_Missense_Mutation_p.R324S	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	352					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						GATCAACATCCGCAATGCCAG	0.443		NA											9	38					0.000442599	0.000507443	1	0
HEPH	9843	broad.mit.edu	37	X	65486459	65486459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:65486459G>T	uc011moz.1	+	21	3491	c.3431G>T	c.(3430-3432)CGC>CTC	p.R1144L	HEPH_uc004dwn.2_Missense_Mutation_p.R1143L|HEPH_uc004dwo.2_Missense_Mutation_p.R874L|HEPH_uc010nkr.2_Missense_Mutation_p.R952L|HEPH_uc011mpa.1_Missense_Mutation_p.R1144L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1141	Cytoplasmic (Potential).				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						AAGCTACGACGCAATAGGAGG	0.493		NA											16	46					4.15e-12	5.79e-12	1	0
STARD8	9754	broad.mit.edu	37	X	67942409	67942409	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:67942409T>C	uc004dxa.2	+	11	2852	c.2480T>C	c.(2479-2481)CTG>CCG	p.L827P	STARD8_uc004dxb.2_Missense_Mutation_p.L907P|STARD8_uc004dxc.3_Missense_Mutation_p.L827P	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	827	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						ATCCAGGACCTGCTGCGTGAT	0.647		NA											9	39					0	0	0	0
SNX12	29934	broad.mit.edu	37	X	70282792	70282792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70282792A>T	uc004dyr.1	-	2	248	c.173T>A	c.(172-174)CTA>CAA	p.L58Q	SNX12_uc004dyp.1_RNA|uc004dyq.2_5'Flank	NM_013346	NP_037478	Q9UMY4	SNX12_HUMAN	sorting nexin 12	58	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding				0	Renal(35;0.156)					GAAGATAGGTAGGTTTGTCTA	0.453		NA											5	21					0	0	0	0
MED12	9968	broad.mit.edu	37	X	70338650	70338650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70338650C>G	uc004dyy.2	+	1	245	c.46C>G	c.(46-48)CGG>GGG	p.R16G	MED12_uc011mpq.1_Missense_Mutation_p.R16G|MED12_uc004dyz.2_Missense_Mutation_p.R16G|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	16				R -> RPR (in Ref. 1; AAD22033).	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCCCCTGAAGCGGCCGCGGCT	0.682		NA											4	26					0	0	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523356	70523356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70523356G>A	uc004dzr.1	+	6	487	c.458G>A	c.(457-459)GGA>GAA	p.G153E	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.G135E	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	153	Cys-rich.|CHORD 2.				muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					CAGAACCCAGGATGTGATGCT	0.512		NA											19	89					0	0	0	0
TAF1	6872	broad.mit.edu	37	X	70614023	70614023	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70614023A>G	uc004dzu.3	+	22	3382	c.3331A>G	c.(3331-3333)AAG>GAG	p.K1111E	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.K1132E|TAF1_uc004dzv.3_Missense_Mutation_p.K285E	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1111					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GTTGCAGAACAAGAAAACCAG	0.458		NA											13	51					0	0	0	0
CDX4	1046	broad.mit.edu	37	X	72667341	72667341	+	Silent	SNP	C	C	T	rs146093321		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:72667341C>T	uc011mqk.1	+	1	252	c.252C>T	c.(250-252)AGC>AGT	p.S84S		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					AAGACTGGAGCGTGTATCCTG	0.607		NA											8	57					0	0	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962135	73962135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:73962135G>T	uc004eby.2	-	3	2874	c.2257C>A	c.(2257-2259)CAA>AAA	p.Q753K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	753					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TTTGAGGATTGGTTTTCCAAG	0.388		NA											14	80					4.38e-07	5.58e-07	1	0
ABCB7	22	broad.mit.edu	37	X	74282246	74282246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74282246C>T	uc004eca.2	-	14	1877	c.1852G>A	c.(1852-1854)GCA>ACA	p.A618T	ABCB7_uc004ebz.2_Missense_Mutation_p.A619T|ABCB7_uc011mqn.1_Missense_Mutation_p.A592T|ABCB7_uc010nls.2_Missense_Mutation_p.A579T|ABCB7_uc010nlt.2_Missense_Mutation_p.A578T	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	618	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CTTGCAATTGCTACTCTTTGC	0.353		NA											8	49					0	0	0	0
UPRT	139596	broad.mit.edu	37	X	74494242	74494242	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74494242C>A	uc004ecb.1	+	1	282	c.153C>A	c.(151-153)CTC>CTA	p.L51L	UPRT_uc010nlu.1_Silent_p.L51L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L51L|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	51					nucleoside metabolic process	cytoplasm|nucleus					0						AGGTGATTCTCCTCACGGGGT	0.632		NA											6	32					5.94e-07	7.52e-07	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650773	75650773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:75650773G>T	uc004ecm.1	+	1	2657	c.2450G>T	c.(2449-2451)CGA>CTA	p.R817L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	817	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CTGTACAACCGAAGGGAGATG	0.488		NA											10	52					6.4e-05	7.66e-05	1	0
ATRX	546	broad.mit.edu	37	X	76944409	76944409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:76944409G>T	uc004ecp.3	-	7	728	c.496C>A	c.(496-498)CAT>AAT	p.H166N	ATRX_uc004ecq.3_Missense_Mutation_p.H128N|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Missense_Mutation_p.H127N|ATRX_uc010nlx.1_Missense_Mutation_p.H166N|ATRX_uc010nly.1_Missense_Mutation_p.H111N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	166	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACAATCCCATGAAGCCCATCT	0.358		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						12	98					1.58e-08	2.1e-08	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090898	91090898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:91090898T>C	uc004efk.1	+	1	1240	c.395T>C	c.(394-396)ATA>ACA	p.I132T	PCDH11X_uc004efl.1_Missense_Mutation_p.I132T|PCDH11X_uc004efo.1_Missense_Mutation_p.I132T|PCDH11X_uc010nmv.1_Missense_Mutation_p.I132T|PCDH11X_uc004efm.1_Missense_Mutation_p.I132T|PCDH11X_uc004efn.1_Missense_Mutation_p.I132T|PCDH11X_uc004efh.1_Missense_Mutation_p.I132T|PCDH11X_uc004efj.1_Missense_Mutation_p.I132T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	132	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATAGAAGATATAAATGATAAT	0.388		NA											13	51					0	0	0	0
DRP2	1821	broad.mit.edu	37	X	100510189	100510189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:100510189A>T	uc004egz.2	+	20	2566	c.2197A>T	c.(2197-2199)AGT>TGT	p.S733C	DRP2_uc011mrh.1_Missense_Mutation_p.S655C	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	733					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TGAGATGGAAAGTCAAAATTG	0.453		NA											19	111					0	0	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970137	101970137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:101970137G>C	uc004ejk.2	+	4	1674	c.340G>C	c.(340-342)GCC>CCC	p.A114P	GPRASP2_uc004ejl.2_Missense_Mutation_p.A114P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A114P|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	114						cytoplasm	protein binding			ovary(1)	1						TAAAACTGATGCCAAGGCAAT	0.577		NA											38	188					0	0	0	0
MORC4	79710	broad.mit.edu	37	X	106200165	106200165	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:106200165C>G	uc004emu.3	-	12	1697	c.1454_splice	c.e12+1	p.Q485_splice	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Splice_Site_p.Q485_splice|MORC4_uc004emw.3_Splice_Site_p.Q233_splice	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2								ATP binding|zinc ion binding			ovary(1)	1						GTATACTCAACTGTTTCTTAG	0.428		NA											7	112					0	0	0	0
TEX13B	56156	broad.mit.edu	37	X	107224687	107224687	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107224687C>G	uc004enn.1	-	3	655	c.562G>C	c.(562-564)GCG>CCG	p.A188P		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	188										ovary(1)	1						GCAGCCACCGCCTCCTTTTCC	0.652		NA											47	284					0	0	0	0
IRS4	8471	broad.mit.edu	37	X	107978562	107978562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107978562G>T	uc004eoc.2	-	1	1046	c.1013C>A	c.(1012-1014)GCC>GAC	p.A338D		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	338						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCGGCAGCGGGCTCTGTATTC	0.597		NA											47	275					4.22e-32	6.35e-32	1	0
RGAG1	57529	broad.mit.edu	37	X	109695144	109695144	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:109695144C>G	uc004eor.1	+	3	1545	c.1299C>G	c.(1297-1299)GCC>GCG	p.A433A	RGAG1_uc011msr.1_Silent_p.A433A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	433										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAGTTCCAGCCTCTGGAGCCA	0.512		NA											34	227					0	0	0	0
AGTR2	186	broad.mit.edu	37	X	115303582	115303582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115303582G>T	uc004eqh.3	+	3	256	c.49G>T	c.(49-51)GGT>TGT	p.G17C		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	17	Extracellular (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						CATTACCAGCGGTCTTCACTT	0.423		NA											19	60					2.94e-08	3.88e-08	1	0
CXorf61	203413	broad.mit.edu	37	X	115593060	115593060	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115593060G>T	uc004eqj.1	-	2	310	c.190C>A	c.(190-192)CGG>AGG	p.R64R		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	64	Extracellular (Potential).					integral to membrane|plasma membrane					0						AAAATATCCCGAGAGAGGTCG	0.408		NA											10	102					3.86e-05	4.64e-05	1	0
IL13RA1	3597	broad.mit.edu	37	X	117880977	117880977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117880977C>A	uc004eqs.2	+	3	332	c.289C>A	c.(289-291)CAA>AAA	p.Q97K	IL13RA1_uc004eqr.1_Missense_Mutation_p.Q97K|IL13RA1_uc004eqt.1_Missense_Mutation_p.Q97K	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	97	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						GATTTGTCTGCAAGTGGGGTC	0.438		NA											16	85					1.15e-07	1.49e-07	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959998	117959998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117959998T>C	uc004equ.2	+	4	1264	c.791T>C	c.(790-792)ATA>ACA	p.I264T		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						TGCAATGTGATAGAGATAGAT	0.567		NA											12	82					0	0	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389152	119389152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119389152G>C	uc004esn.1	+	2	2110	c.1882G>C	c.(1882-1884)GGG>CGG	p.G628R	ZBTB33_uc010nqm.1_Missense_Mutation_p.G628R	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ACCTCCAGTAGGGACCACTAC	0.383		NA											13	88					0	0	0	0
CUL4B	8450	broad.mit.edu	37	X	119694442	119694442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119694442G>A	uc004esw.2	-	3	543	c.106C>T	c.(106-108)CAG>TAG	p.Q36*	CUL4B_uc004esv.2_Nonsense_Mutation_p.Q18*	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	36	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						CTGACCTCCTGAGCAGCAGCA	0.433		NA											5	16					0	0	0	0
STAG2	10735	broad.mit.edu	37	X	123181323	123181323	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123181323A>C	uc004etz.3	+	8	1126	c.787A>C	c.(787-789)AGG>CGG	p.R263R	STAG2_uc004eua.2_Silent_p.R263R|STAG2_uc004eub.2_Silent_p.R263R|STAG2_uc004euc.2_Silent_p.R263R|STAG2_uc004eud.2_Silent_p.R263R|STAG2_uc004eue.2_Silent_p.R263R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	263					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AGCCAATGAGAGGCTAGAACT	0.348		NA											10	55					0	0	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480493	123480493	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123480493A>G	uc004euf.3	+	1	346	c.1A>G	c.(1-3)ATG>GTG	p.M1V	SH2D1A_uc004euh.3_Missense_Mutation_p.M1V|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	SH2 domain protein 1A isoform 1	1					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity				0						CCACCAGGCCATGGACGCAGT	0.592		NA							X-linked_Lymphoproliferative_syndrome				14	100					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123805604C>A	uc004euj.2	-	6	1161	c.1097G>T	c.(1096-1098)AGG>ATG	p.R366M	ODZ1_uc011muj.1_Missense_Mutation_p.R365M|ODZ1_uc010nqy.2_Missense_Mutation_p.R366M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	366	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTCGGTCCCCCTGTTCCCTTT	0.438		NA											26	145					3.67e-16	5.31e-16	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185945	127185945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:127185945C>A	uc004eum.2	-	1	438	c.241G>T	c.(241-243)GGA>TGA	p.G81*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	81						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						TCATCCCATCCTGTTACCAGT	0.483		NA											57	243					1.04e-30	1.57e-30	1	0
MOSPD1	56180	broad.mit.edu	37	X	134033180	134033180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:134033180G>T	uc004eyb.2	-	3	357	c.170C>A	c.(169-171)CCA>CAA	p.P57Q	MOSPD1_uc004eya.2_Missense_Mutation_p.P57Q|MOSPD1_uc010nrv.2_Intron|MOSPD1_uc011mvr.1_Missense_Mutation_p.P57Q	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	57	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ATACTTATTTGGAGTAGTACA	0.343		NA											30	119					3.65e-15	5.25e-15	1	0
FHL1	2273	broad.mit.edu	37	X	135288651	135288651	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135288651G>C	uc004ezo.2	+	2	160	c.60G>C	c.(58-60)GTG>GTC	p.V20V	FHL1_uc010nrz.2_Silent_p.V20V|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.V20V|FHL1_uc004ezq.2_Silent_p.V20V|FHL1_uc011mvy.1_Silent_p.V20V|FHL1_uc011mvz.1_Silent_p.V20V|FHL1_uc004ezn.2_Silent_p.V20V|FHL1_uc011mwa.1_Silent_p.V49V|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.V36V|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	20	C4-type (Potential).				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					AGAAGTATGTGCAAAAGGATG	0.567		NA											38	215					0	0	0	0
GPR112	139378	broad.mit.edu	37	X	135426794	135426794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135426794C>A	uc004ezu.1	+	6	1220	c.929C>A	c.(928-930)ACA>AAA	p.T310K	GPR112_uc010nsb.1_Missense_Mutation_p.T105K|GPR112_uc010nsc.1_Missense_Mutation_p.T77K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	310	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GTAGATGAGACAGCTACATTT	0.378		NA											11	67					4.37e-10	5.96e-10	1	0
GPR112	139378	broad.mit.edu	37	X	135482271	135482271	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135482271T>A	uc004ezu.1	+	21	8862	c.8571T>A	c.(8569-8571)GGT>GGA	p.G2857G	GPR112_uc010nsb.1_Silent_p.G2652G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2857	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GTCTAGTTGGTTGGGGTAAGT	0.333		NA											8	60					0	0	0	0
MCF2	4168	broad.mit.edu	37	X	138670521	138670521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138670521G>T	uc004fau.2	-	21	2741	c.2447C>A	c.(2446-2448)ACA>AAA	p.T816K	MCF2_uc004fav.2_Missense_Mutation_p.T832K|MCF2_uc011mwl.1_Missense_Mutation_p.T793K|MCF2_uc010nsh.1_Missense_Mutation_p.T816K|MCF2_uc011mwm.1_Missense_Mutation_p.T777K|MCF2_uc011mwn.1_Missense_Mutation_p.T961K|MCF2_uc004faw.2_Missense_Mutation_p.T876K|MCF2_uc011mwo.1_Missense_Mutation_p.T892K	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GAATTTACCTGTCAAAAGTTC	0.328		NA											10	39					2.18e-05	2.66e-05	1	0
ATP11C	286410	broad.mit.edu	37	X	138844238	138844238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138844238G>T	uc004faz.2	-	22	2630	c.2531C>A	c.(2530-2532)GCA>GAA	p.A844E	ATP11C_uc004fax.2_Missense_Mutation_p.A52E|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A844E	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	844	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTAGCTGCTTGGCGACC	0.363		NA											27	136					3.17e-13	4.5e-13	1	0
CDR1	1038	broad.mit.edu	37	X	139866430	139866430	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:139866430C>T	uc004fbg.1	-	1	294	c.102G>A	c.(100-102)TTG>TTA	p.L34L	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	34	23 X 6 AA approximate repeats.|6.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTGTGTCTTCCAACAAAGGTA	0.453		NA											33	207					0	0	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967601	142967601	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:142967601C>A	uc004fca.2	+	1	429	c.399C>A	c.(397-399)AAC>AAA	p.N133K		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	133							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGACCAACGAAGCCCAAG	0.438		NA											9	101					4.69e-08	6.13e-08	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798378	148798378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:148798378C>A	uc004fdq.2	+	5	1334	c.1232C>A	c.(1231-1233)CCC>CAC	p.P411H	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P382H	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	411	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGGGATCCCACTTCTTAC	0.547		NA											24	168					5.45e-15	7.81e-15	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283934	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283933_151283934CC>AA	uc004ffj.2	-	3	284_285	c.79_80GG>TT	c.(79-81)GGT>TTT	p.G27F		NM_021049	NP_066387	P43359	MAGA5_HUMAN	melanoma antigen family A, 5	27	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTGCACACCCACCAGGCCC	0.624		NA											20	115					0	0	0	0
SRPK3	26576	broad.mit.edu	37	X	153046726	153046726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153046726C>A	uc004fil.2	+	2	147	c.115C>A	c.(115-117)CCG>ACG	p.P39T	SRPK3_uc004fik.2_Missense_Mutation_p.P105T|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.P39T|SRPK3_uc004fim.2_Missense_Mutation_p.P39T	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	39					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCACACCGGTGCCTCA	0.662		NA											9	44					0.000274275	0.000317014	1	0
SRPK3	26576	broad.mit.edu	37	X	153049747	153049747	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153049747A>T	uc004fil.2	+	11	1180	c.1148_splice	c.e11-2	p.T383_splice	SRPK3_uc004fik.2_Splice_Site_p.T449_splice|SRPK3_uc010nul.2_Splice_Site_p.T307_splice|SRPK3_uc004fin.2_Splice_Site_p.T382_splice|SRPK3_uc004fim.2_Splice_Site_p.T349_splice	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3						cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTCCCCAGCACCATTCG	0.612		NA											12	56					0	0	0	0
HCFC1	3054	broad.mit.edu	37	X	153218076	153218076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153218076C>A	uc004fjp.2	-	19	5359	c.4831G>T	c.(4831-4833)GAG>TAG	p.E1611*		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1611					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAGCTCCTCGGGGGTG	0.662		NA											11	49					1.59e-06	1.99e-06	1	0
GAB3	139716	broad.mit.edu	37	X	153944560	153944560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153944560G>T	uc004fmj.1	-	2	165	c.117C>A	c.(115-117)AGC>AGA	p.S39R	GAB3_uc004fmk.1_Missense_Mutation_p.S39R|GAB3_uc010nve.1_Missense_Mutation_p.S39R|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	39	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGGTTGCCGCTCATGCGGC	0.562		NA											10	56					0.000442599	0.000507443	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:100451839_100451840insG	uc001tgq.2	-	14	3444_3445	c.3215_3216insC	c.(3214-3216)CCAfs	p.P1072fs	UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.P722fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1072										ovary(2)	2						GTGTTCTAACTGGGGGGGTCTC	0.371		NA											21	88	---	---	---	---	NA	NA	NA	NA
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:34263770delC	uc002hkj.1	-	3	516	c.366delG	c.(364-366)GGGfs	p.G122fs	LYZL6_uc002hkk.1_Frame_Shift_Del_p.G122fs	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572		NA											31	139	---	---	---	---	NA	NA	NA	NA
STRADA	92335	broad.mit.edu	37	17	61791420	61791420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:61791420delC	uc002jbm.2	-	5	331	c.172delG	c.(172-174)GTCfs	p.V58fs	STRADA_uc002jbn.2_5'UTR|STRADA_uc002jbo.2_Frame_Shift_Del_p.V21fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.V21fs|STRADA_uc002jbq.2_5'UTR|STRADA_uc010wpq.1_Intron|STRADA_uc010wpr.1_Frame_Shift_Del_p.V29fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.V29fs|STRADA_uc002jbr.2_5'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	58					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						CTACTCATGACCTCCTGTTTA	0.488		NA											19	62	---	---	---	---	NA	NA	NA	NA
NCKAP5	344148	broad.mit.edu	37	2	133541907	133541907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:133541907delG	uc002ttp.2	-	14	2851	c.2477delC	c.(2476-2478)CCTfs	p.P826fs	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	826							protein binding				0						GCCAGATGAAGGGAGTAGTGT	0.473		NA											43	199	---	---	---	---	NA	NA	NA	NA
FARP2	9855	broad.mit.edu	37	2	242373725	242373726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:242373725_242373726insT	uc002wbi.1	+	10	1137_1138	c.1020_1021insT	c.(1018-1023)TCCTTCfs	p.S340fs	FARP2_uc010zoq.1_Frame_Shift_Ins_p.S340fs|FARP2_uc010zor.1_Frame_Shift_Ins_p.S340fs	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	340_341					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGCTCCTCCTTCAGATACAG	0.46		NA											10	56	---	---	---	---	NA	NA	NA	NA
APC	324	broad.mit.edu	37	5	112175846	112175846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:112175846delG	uc010jby.2	+	16	4935	c.4555delG	c.(4555-4557)GATfs	p.D1519fs	APC_uc011cvt.1_Frame_Shift_Del_p.D1501fs|APC_uc003kpz.3_Frame_Shift_Del_p.D1519fs|APC_uc003kpy.3_Frame_Shift_Del_p.D1519fs|APC_uc010jbz.2_Frame_Shift_Del_p.D1236fs|APC_uc010jca.2_Frame_Shift_Del_p.D819fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1519	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)|p.D1519fs*4(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATACAGAAAGATGTGGAATT	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			13	37	---	---	---	---	NA	NA	NA	NA
AMPH	273	broad.mit.edu	37	7	38471788	38471788	+	Splice_Site	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38471788delC	uc003tgu.2	-	13	1227	c.1158_splice	c.e13+1	p.T386_splice	AMPH_uc003tgv.2_Splice_Site_p.T386_splice|AMPH_uc003tgt.2_Splice_Site_p.T139_splice|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TAGTGGCTTACCGTCCATAGG	0.328		NA											18	60	---	---	---	---	NA	NA	NA	NA
MGAM	8972	broad.mit.edu	37	7	141752606	141752607	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141752606_141752607insT	uc003vwy.2	+	26	3035_3036	c.2981_2982insT	c.(2980-2982)CCTfs	p.P994fs		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	994	Lumenal (Potential).|P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGAGTCCCTTTTTGCTATT	0.421		NA											26	123	---	---	---	---	NA	NA	NA	NA
PCMTD1	115294	broad.mit.edu	37	8	52733128	52733128	+	Frame_Shift_Del	DEL	T	T	-	rs62506083	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:52733128delT	uc003xqx.3	-	6	1198	c.857delA	c.(856-858)AACfs	p.N286fs	PCMTD1_uc011ldm.1_Frame_Shift_Del_p.N156fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.N286fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.N98fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.N210fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	286						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				TACGTAAGTGTTAATTCTCTG	0.308		NA											11	180	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21974720	21974721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:21974720_21974721insC	uc003zpk.2	-	1	318_319	c.106_107insG	c.(106-108)GCGfs	p.A36fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.A36fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	36	ANK 1.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.L32_L37del(6)|p.A36T(3)|p.G35fs*13(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.A36fs*8(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			32	113	---	---	---	---	NA	NA	NA	NA
ORM2	5005	broad.mit.edu	37	9	117092249	117092250	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:117092249_117092250delTG	uc004bil.2	+	1	181_182	c.65_66delTG	c.(64-66)TTGfs	p.L22fs	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	22					acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)				CAGATCCCATTGTGTGCCAACC	0.624		NA											6	13	---	---	---	---	NA	NA	NA	NA