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
KLHL17	339451	broad.mit.edu	37	1	900458	900458	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:900458G>A	uc001aca.1	+	12	1923	c.1816G>A	c.(1816-1818)GCC>ACC	p.A606T	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	606	Kelch 6.|Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAAGTGGGTGGCCGCATCCTG	0.637												
AGRN	375790	broad.mit.edu	37	1	989347	989347	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:989347G>A	uc001ack.1	+	34	5916	c.5866G>A	c.(5866-5868)GTG>ATG	p.V1956M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1956	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTGCGGGTCGTGGCACATAG	0.637												
MIB2	142678	broad.mit.edu	37	1	1559291	1559291	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:1559291G>A	uc001agg.2	+	4	686	c.559G>A	c.(559-561)GCC>ACC	p.A187T	MIB2_uc001agh.2_Missense_Mutation_p.A173T|MIB2_uc001agi.2_Missense_Mutation_p.A187T|MIB2_uc001agj.2_Missense_Mutation_p.A28T|MIB2_uc001agk.2_Missense_Mutation_p.A187T|MIB2_uc001agl.1_Missense_Mutation_p.A143T|MIB2_uc001agm.2_Missense_Mutation_p.A129T|MIB2_uc010nyq.1_Missense_Mutation_p.A143T|MIB2_uc009vkh.2_Missense_Mutation_p.A28T|MIB2_uc001agn.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	187	ZZ-type.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCGCCCACGCCTTCGACCG	0.687												
SKI	6497	broad.mit.edu	37	1	2234752	2234752	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:2234752G>A	uc001aja.3	+	3	1196	c.1124G>A	c.(1123-1125)CGC>CAC	p.R375H		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	375					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CCTCGCCAGCGCCTCTCTGCT	0.617												
MMEL1	79258	broad.mit.edu	37	1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:2522446G>A	uc001ajy.2	-	24	2537	c.2323C>T	c.(2323-2325)CGA>TGA	p.R775*	C1orf93_uc001aju.1_3'UTR|C1orf93_uc001ajw.1_3'UTR|C1orf93_uc001ajv.1_3'UTR|C1orf93_uc010nzd.1_3'UTR|C1orf93_uc010nze.1_3'UTR|C1orf93_uc010nzf.1_3'UTR|C1orf93_uc001ajx.1_3'UTR|MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701												
PRDM16	63976	broad.mit.edu	37	1	3328339	3328339	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3328339G>A	uc001akf.2	+	9	1658	c.1578G>A	c.(1576-1578)CCG>CCA	p.P526P	PRDM16_uc001akc.2_Silent_p.P526P|PRDM16_uc001akd.2_Silent_p.P526P|PRDM16_uc001ake.2_Silent_p.P526P|PRDM16_uc009vlh.2_Silent_p.P227P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	526	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCCCCGGCCGCCTCTGCTAC	0.701			T	EVI1	MDS|AML							
ARHGEF16	27237	broad.mit.edu	37	1	3394493	3394493	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3394493T>C	uc001akg.3	+	11	1776	c.1528T>C	c.(1528-1530)TTA>CTA	p.L510L	ARHGEF16_uc001aki.2_Silent_p.L222L|ARHGEF16_uc001akj.2_Silent_p.L222L|ARHGEF16_uc010nzh.1_Silent_p.L214L	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	510	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGAGCTGTTCTTAGTGGAAGA	0.577												
MEGF6	1953	broad.mit.edu	37	1	3428619	3428619	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3428619G>A	uc001akl.2	-	8	1154	c.927C>T	c.(925-927)TGC>TGT	p.C309C	MEGF6_uc001akk.2_Silent_p.C204C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	309	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGTGACACACGCACTTGAAGG	0.672												
LRRC47	57470	broad.mit.edu	37	1	3703715	3703715	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3703715G>A	uc001akx.1	-	2	803	c.775C>T	c.(775-777)CGC>TGC	p.R259C		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	259					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCCGACGCGCAGGTACTCC	0.473												
NPHP4	261734	broad.mit.edu	37	1	6021934	6021934	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6021934G>A	uc001alq.1	-	6	859	c.593C>T	c.(592-594)GCG>GTG	p.A198V	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	198					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGTGGAACGCAGGCTCCAG	0.532												
THAP3	90326	broad.mit.edu	37	1	6688663	6688663	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6688663G>A	uc001aoc.2	+	3	338	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	THAP3_uc001aod.2_Missense_Mutation_p.R60Q|THAP3_uc001aoe.1_Missense_Mutation_p.R60Q			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	60	THAP-type.						DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCACTTCCGGCCAGAGTGC	0.612												
THAP3	90326	broad.mit.edu	37	1	6688716	6688716	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6688716G>A	uc001aoc.2	+	3	391	c.232G>A	c.(232-234)GTG>ATG	p.V78M	THAP3_uc001aod.2_Missense_Mutation_p.V78M|THAP3_uc001aoe.1_Missense_Mutation_p.V78M			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	78	THAP-type.						DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCACAATGCCGTGCCCACGGT	0.592												
DNAJC11	55735	broad.mit.edu	37	1	6704674	6704674	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6704674G>A	uc001aof.2	-	10	1147	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.S347S|DNAJC11_uc010nzu.1_Silent_p.S257S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	347					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAAAACGCTGTGCCTGG	0.552												
H6PD	9563	broad.mit.edu	37	1	9305054	9305054	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:9305054G>A	uc001apt.2	+	2	334	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	21	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCAAGCCCAGGAGCTCCAGGG	0.567												
H6PD	9563	broad.mit.edu	37	1	9305488	9305488	+	Silent	SNP	C	C	T	rs143453022		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:9305488C>T	uc001apt.2	+	2	768	c.495C>T	c.(493-495)GGC>GGT	p.G165G		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	165	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGGCCCGGGCGCCTGGCTGC	0.607												
UBE4B	10277	broad.mit.edu	37	1	10207065	10207065	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10207065C>T	uc001aqs.3	+	19	3221	c.2508C>T	c.(2506-2508)GAC>GAT	p.D836D	UBE4B_uc001aqr.3_Silent_p.D707D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.D291D|UBE4B_uc001aqt.1_Silent_p.D176D	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	836					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCTACTTGACGAGAGCTTCC	0.532												
CORT	1325	broad.mit.edu	37	1	10510294	10510294	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10510294C>A	uc001ari.2	+	1	324	c.164C>A	c.(163-165)CCC>CAC	p.P55H	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	NM_001302	NP_001293	O00230	CORT_HUMAN	cortistatin preproprotein	5					inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCATTGTCCCCCGGCCTCCTG	0.657												
PEX14	5195	broad.mit.edu	37	1	10659294	10659294	+	Splice_Site	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10659294G>T	uc001arn.2	+	4	191	c.170_splice	c.e4-1	p.G57_splice	PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.2_Splice_Site|PEX14_uc010oam.1_Splice_Site|PEX14_uc010oan.1_Intron|PEX14_uc009vmw.2_Splice_Site	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14						negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCTCCCCAGGGCTGACAGA	0.532												
PTCHD2	57540	broad.mit.edu	37	1	11580806	11580806	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11580806C>T	uc001ash.3	+	10	2401	c.2263C>T	c.(2263-2265)CGG>TGG	p.R755W	PTCHD2_uc001asi.1_Missense_Mutation_p.R755W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	755	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCGCCAGCCGGGCCCCGCT	0.652												
FBXO6	26270	broad.mit.edu	37	1	11728893	11728893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11728893C>T	uc001aso.2	+	2	344	c.178C>T	c.(178-180)CGA>TGA	p.R60*		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	60					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGCCTGCGAGAGGGCTT	0.632												
TNFRSF8	943	broad.mit.edu	37	1	12202468	12202468	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:12202468T>C	uc001atq.2	+	15	1890	c.1668T>C	c.(1666-1668)CAT>CAC	p.H556H	TNFRSF8_uc010obc.1_Silent_p.H444H|TNFRSF8_uc001atr.2_Silent_p.H93H|TNFRSF8_uc001ats.2_Silent_p.H37H	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	556	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCGGACCATACCCCCCACT	0.662												
PRAMEF12	390999	broad.mit.edu	37	1	12835715	12835715	+	Missense_Mutation	SNP	G	G	A	rs145339247	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:12835715G>A	uc001aui.2	+	2	344	c.317G>A	c.(316-318)CGG>CAG	p.R106Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	106										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGACTTGCGGAATGTGGAT	0.512												
CTRC	11330	broad.mit.edu	37	1	15771162	15771162	+	Silent	SNP	G	G	A	rs113087202	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:15771162G>A	uc001awi.1	+	6	578	c.555G>A	c.(553-555)ACG>ACA	p.T185T	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	185	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCACGCCACGTGCTCCAGGA	0.627												
FBLIM1	54751	broad.mit.edu	37	1	16091539	16091539	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16091539C>T	uc001axd.1	+	4	504	c.61C>T	c.(61-63)CGC>TGC	p.R21C	FBLIM1_uc001axe.1_Missense_Mutation_p.R21C|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.R21C|FBLIM1_uc001axh.1_Missense_Mutation_p.R21C|FBLIM1_uc001axi.1_Missense_Mutation_p.R21C	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	21	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGCACCCCCGCGCCGCGATGT	0.662												
SPEN	23013	broad.mit.edu	37	1	16203108	16203108	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16203108C>T	uc001axk.1	+	3	1020	c.816C>T	c.(814-816)AGC>AGT	p.S272S	SPEN_uc010obp.1_Silent_p.S231S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	272	Ser-rich.|Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTAGCGGCAGCGGCTCTAGAA	0.502												
EPHA2	1969	broad.mit.edu	37	1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16458656C>T	uc001aya.1	-	13	2365	c.2228G>A	c.(2227-2229)CGC>CAC	p.R743H		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAGGATGTTGCGGGCAGCCAG	0.612												
CROCC	9696	broad.mit.edu	37	1	17266547	17266547	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:17266547C>T	uc001azt.2	+	13	1836	c.1767C>T	c.(1765-1767)CGC>CGT	p.R589R	CROCC_uc009voy.1_Silent_p.R292R|CROCC_uc009voz.1_Silent_p.R352R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	589	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|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)|Lung(427;0.181)		ACGCCCAGCGCGAGGTGCAGC	0.672												
IGSF21	84966	broad.mit.edu	37	1	18661448	18661448	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:18661448G>A	uc001bau.1	+	4	751	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	123	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATCTACGACCGCGCCACCAGG	0.622												
KLHDC7A	127707	broad.mit.edu	37	1	18809556	18809556	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:18809556G>A	uc001bax.2	+	1	2133	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R476H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	694						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGTGTACCGCTGCAGCGCC	0.667												
KIF17	57576	broad.mit.edu	37	1	21016738	21016738	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:21016738G>A	uc001bdr.3	-	7	1442	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R442C	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	442	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TATGAGTTGCGCATGGCAGTG	0.637												
SH2D5	400745	broad.mit.edu	37	1	21048381	21048381	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:21048381G>A	uc001bdt.1	-	9	1549	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y	SH2D5_uc009vpy.1_Silent_p.Y392Y|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	308	SH2.										0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGCTCCTCGTAGGTGGGGT	0.677												
EPHA8	2046	broad.mit.edu	37	1	22927816	22927816	+	Missense_Mutation	SNP	G	G	A	rs141279306		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:22927816G>A	uc001bfx.1	+	16	2878	c.2753G>A	c.(2752-2754)CGG>CAG	p.R918Q		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	918	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTTCGTCCGGAGCTGCTTT	0.682												
EPHB2	2048	broad.mit.edu	37	1	23233308	23233308	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:23233308G>A	uc009vqj.1	+	11	2139	c.1994G>A	c.(1993-1995)CGG>CAG	p.R665Q	EPHB2_uc001bge.2_Missense_Mutation_p.R666Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R665Q|EPHB2_uc010odu.1_Missense_Mutation_p.R607Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	665	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAGCAGCGCCGGGACTTCCTG	0.582									Hereditary_Prostate_Cancer			
RHD	6007	broad.mit.edu	37	1	25611170	25611170	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:25611170G>A	uc001bjz.2	+	2	313	c.255G>A	c.(253-255)GCG>GCA	p.A85A	RHD_uc010oep.1_Silent_p.A85A|RHD_uc001bkc.2_Silent_p.A85A|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.A85A|RHD_uc001bkb.2_Silent_p.A85A|RHD_uc009vrn.2_Silent_p.A85A|RHD_uc009vro.2_Silent_p.A85A|RHD_uc009vrp.2_Silent_p.A85A	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	85	Helical; (Potential).					integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCATGCTGGCGCTTGGTGTGC	0.577												
MAP3K6	9064	broad.mit.edu	37	1	27682908	27682908	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:27682908C>T	uc001bny.1	-	26	3857	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	MAP3K6_uc009vsw.1_Missense_Mutation_p.R1195Q	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1203	Potential.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACATAGGTCCGGGCTTCCTC	0.622												
PPP1R8	5511	broad.mit.edu	37	1	28176659	28176659	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:28176659G>A	uc001bov.1	+	7	812	c.758G>A	c.(757-759)CGC>CAC	p.R253H	PPP1R8_uc001bow.1_Missense_Mutation_p.R111H|PPP1R8_uc001box.1_Missense_Mutation_p.R29H|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	253					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGCAGGCGCATGCAGAAC	0.612												
PTAFR	5724	broad.mit.edu	37	1	28476914	28476914	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:28476914G>T	uc001bpl.2	-	2	746	c.619C>A	c.(619-621)CTG>ATG	p.L207M	PTAFR_uc001bpm.3_Missense_Mutation_p.L207M|PTAFR_uc009vte.2_Missense_Mutation_p.L207M	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	207	Cytoplasmic (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGACCAGGTTGCAGAAG	0.567												
PTPRU	10076	broad.mit.edu	37	1	29644308	29644308	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:29644308G>A	uc001bru.2	+	26	3702	c.3592G>A	c.(3592-3594)GCC>ACC	p.A1198T	PTPRU_uc001brv.2_Missense_Mutation_p.A1194T|PTPRU_uc001brw.2_Missense_Mutation_p.A1188T|PTPRU_uc009vtq.2_Missense_Mutation_p.A1194T|PTPRU_uc009vtr.2_Missense_Mutation_p.A1185T|PTPRU_uc001brx.2_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1198	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTGCAGCATCGCCCTGTTGCC	0.637												
CSMD2	114784	broad.mit.edu	37	1	34088992	34088992	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:34088992T>C	uc001bxn.1	-	36	5609	c.5580A>G	c.(5578-5580)GTA>GTG	p.V1860V	CSMD2_uc001bxm.1_Silent_p.V1900V|CSMD2_uc001bxo.1_Silent_p.V773V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1860	CUB 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGCATGGTTACAGTGTTAT	0.438												
ZMYM6	9204	broad.mit.edu	37	1	35453279	35453279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35453279G>A	uc001byh.2	-	16	3632	c.3404C>T	c.(3403-3405)ACT>ATT	p.T1135I	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.T1038I	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1135					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				gaagaaagtagtcaaagttcc	0.01												
ZMYM6	9204	broad.mit.edu	37	1	35474381	35474381	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35474381A>G	uc001byh.2	-	11	1865	c.1637T>C	c.(1636-1638)ATG>ACG	p.M546T	ZMYM6_uc001byf.1_Missense_Mutation_p.M546T|ZMYM6_uc010oht.1_Missense_Mutation_p.M449T|ZMYM6_uc009vup.2_Missense_Mutation_p.M352T|ZMYM6_uc009vuq.1_Missense_Mutation_p.M546T|ZMYM6_uc009vur.1_Missense_Mutation_p.M352T	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	546	MYM-type 8.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAATTTGGACATACAATCTTC	0.318												
MACF1	23499	broad.mit.edu	37	1	39903506	39903506	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:39903506C>T	uc010oiu.1	+	36	13506	c.13375C>T	c.(13375-13377)CGT>TGT	p.R4459C	MACF1_uc010ois.1_Missense_Mutation_p.R3957C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCTCGCCTGCGTATGCCACC	0.448												
HIVEP3	59269	broad.mit.edu	37	1	42049803	42049803	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:42049803G>A	uc001cgz.3	-	4	1879	c.666C>T	c.(664-666)TGC>TGT	p.C222C	HIVEP3_uc001cha.3_Silent_p.C222C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	222	C2H2-type 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACAGGGGCCGCAGGGGTAGG	0.602												
YBX1	4904	broad.mit.edu	37	1	43162317	43162317	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:43162317C>T	uc001chs.2	+	5	530	c.359C>T	c.(358-360)GCG>GTG	p.A120V		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	120	CSD.			A -> E (in Ref. 2; AAA61308).	CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGTAGGGTGCGGAGGCAGCA	0.413												
LEPRE1	64175	broad.mit.edu	37	1	43215906	43215906	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:43215906C>T	uc001chv.2	-	11	1784	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	LEPRE1_uc001chw.2_Silent_p.T557T|LEPRE1_uc001chx.3_Silent_p.T557T	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	557					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTAGAGGGGCGTATCCAGGC	0.552												
DPH2	1802	broad.mit.edu	37	1	44436283	44436283	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:44436283C>T	uc001ckz.2	+	2	358	c.163C>T	c.(163-165)CCT>TCT	p.P55S	DPH2_uc001cla.2_Missense_Mutation_p.P55S|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	55					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTTGCAGTTCCCTGACCAGCT	0.537												
DMAP1	55929	broad.mit.edu	37	1	44685744	44685744	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:44685744C>T	uc001clq.1	+	10	1187	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S	DMAP1_uc001clr.1_Silent_p.S369S|DMAP1_uc001cls.1_Silent_p.S369S|DMAP1_uc010oku.1_Silent_p.S359S	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	369					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					AGCTGCGAAGCGACCTGGTGC	0.642											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2C	11004	broad.mit.edu	37	1	45216216	45216216	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45216216G>A	uc001cmg.3	+	5	534	c.419G>A	c.(418-420)CGC>CAC	p.R140H	KIF2C_uc010olb.1_Missense_Mutation_p.R140H|KIF2C_uc010olc.1_Missense_Mutation_p.R27H|KIF2C_uc001cmh.3_Missense_Mutation_p.R86H	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	140	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCAAACTCCCGCAAGCAGTTT	0.552												
PTCH2	8643	broad.mit.edu	37	1	45293142	45293142	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45293142G>A	uc010olf.1	-	15	2315	c.2303C>T	c.(2302-2304)GCG>GTG	p.A768V	PTCH2_uc010olg.1_Missense_Mutation_p.A466V	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	768	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGGCAGCACCGCCTTGAGGGA	0.662									Basal_Cell_Nevus_syndrome			
HECTD3	79654	broad.mit.edu	37	1	45476257	45476257	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45476257T>C	uc009vxk.2	-	2	589	c.491A>G	c.(490-492)CAG>CGG	p.Q164R	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Intron|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank|UROD_uc010olj.1_5'Flank|UROD_uc001cnc.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	164					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					GAGCTGCTGCTGCCGCTGGAG	0.687												
FAF1	11124	broad.mit.edu	37	1	51323599	51323599	+	Splice_Site	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:51323599A>G	uc009vyx.1	-	3	177	c.114_splice	c.e3+1	p.V38_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.V38_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1						apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AAAAGTACTTACCACTAAGTC	0.303												
PODN	127435	broad.mit.edu	37	1	53546514	53546514	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:53546514G>A	uc001cuv.2	+	9	1778	c.1771G>A	c.(1771-1773)GAC>AAC	p.D591N	PODN_uc001cuw.2_Missense_Mutation_p.D572N|PODN_uc010onr.1_Missense_Mutation_p.D572N|PODN_uc010ons.1_Missense_Mutation_p.D449N	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	543	LRR 18.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						CAATGCCTTCGACTCCACGCC	0.617												
DMRTB1	63948	broad.mit.edu	37	1	53925671	53925671	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:53925671G>A	uc001cvq.1	+	1	600	c.545G>A	c.(544-546)CGG>CAG	p.R182Q		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	182	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AGGCCGATGCGGACCGTGCCC	0.721												
TMEM59	9528	broad.mit.edu	37	1	54506485	54506485	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:54506485C>T	uc001cwp.2	-	6	901	c.651G>A	c.(649-651)GCG>GCA	p.A217A	TMEM59_uc001cwn.2_Silent_p.A81A|TMEM59_uc001cwo.2_Silent_p.A80A|TMEM59_uc001cwq.2_Silent_p.A218A|TMEM59_uc001cwr.2_Silent_p.A150A|TMEM59_uc001cws.1_Silent_p.A229A	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	217	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AATTCCTGTGCGCTTGTGAAT	0.338												
TMEM59	9528	broad.mit.edu	37	1	54509067	54509067	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:54509067G>A	uc001cwp.2	-	4	772	c.522C>T	c.(520-522)GAC>GAT	p.D174D	TMEM59_uc001cwn.2_Silent_p.D37D|TMEM59_uc001cwo.2_Silent_p.D37D|TMEM59_uc001cwq.2_Silent_p.D174D|TMEM59_uc001cwr.2_Silent_p.D107D|TMEM59_uc001cws.1_Silent_p.D185D	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	174	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CTATTTTTCCGTCATCGGCTT	0.388												
C8B	732	broad.mit.edu	37	1	57431549	57431549	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:57431549G>T	uc001cyp.2	-	1	140	c.73C>A	c.(73-75)CTC>ATC	p.L25I	C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	25					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						GGCAAACTGAGACAGCCCAGG	0.502												
JUN	3725	broad.mit.edu	37	1	59248342	59248342	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:59248342G>T	uc001cze.2	-	1	1444	c.401C>A	c.(400-402)GCG>GAG	p.A134E	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	134					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GACCGGCTGCGCCGCCGACGT	0.716			A		sarcoma							
L1TD1	54596	broad.mit.edu	37	1	62676171	62676171	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:62676171A>G	uc001dae.3	+	4	2027	c.1725A>G	c.(1723-1725)ACA>ACG	p.T575T		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	575										ovary(1)|skin(1)	2						ATTCACATACAAATTTGAGTA	0.378												
KANK4	163782	broad.mit.edu	37	1	62740642	62740642	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:62740642T>C	uc001dah.3	-	3	511	c.134A>G	c.(133-135)GAC>GGC	p.D45G	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	45										ovary(3)|skin(2)|lung(1)	6						CTTCTCGATGTCATCCACATA	0.488												
FOXD3	27022	broad.mit.edu	37	1	63789164	63789164	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:63789164G>A	uc001dax.2	+	1	435	c.435G>A	c.(433-435)TCG>TCA	p.S145S		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	145	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding				0						CGCCTTACTCGTACATCGCGC	0.458												
EFCAB7	84455	broad.mit.edu	37	1	63991248	63991248	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:63991248C>T	uc001dbf.2	+	2	299	c.5C>T	c.(4-6)GCG>GTG	p.A2V	ITGB3BP_uc001dba.1_5'Flank|ITGB3BP_uc001dbb.1_5'Flank|ITGB3BP_uc001dbc.1_5'Flank|ITGB3BP_uc001dbd.1_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	2							calcium ion binding				0						AATAGAATGGCGATCAGTCCA	0.368												
ROR1	4919	broad.mit.edu	37	1	64608333	64608333	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:64608333G>A	uc001dbj.2	+	7	1573	c.1174G>A	c.(1174-1176)GAT>AAT	p.D392N	ROR1_uc001dbi.3_Missense_Mutation_p.G392S|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	392	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCCAGCGTGCGGTAAATAGAA	0.443												
RAVER2	55225	broad.mit.edu	37	1	65243369	65243369	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:65243369C>T	uc001dbs.1	+	3	458	c.380C>T	c.(379-381)TCT>TTT	p.S127F	RAVER2_uc001dbt.1_Missense_Mutation_p.S6F|RAVER2_uc010opb.1_Missense_Mutation_p.S6F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	127	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						CATCAATATTCTTTTAGAGGA	0.343												
IL12RB2	3595	broad.mit.edu	37	1	67787572	67787572	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:67787572G>A	uc001ddu.2	+	3	1004	c.364G>A	c.(364-366)GTT>ATT	p.V122I	IL12RB2_uc010oqi.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqj.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqm.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	122	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						CTTCGTTGGTGGTGAGCATTC	0.368												
SLC44A5	204962	broad.mit.edu	37	1	75681465	75681465	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:75681465A>C	uc001dgu.2	-	19	1846	c.1702T>G	c.(1702-1704)TTT>GTT	p.F568V	SLC44A5_uc001dgt.2_Missense_Mutation_p.F568V|SLC44A5_uc001dgs.2_Missense_Mutation_p.F526V|SLC44A5_uc001dgr.2_Missense_Mutation_p.F526V|SLC44A5_uc010oqz.1_Missense_Mutation_p.F607V|SLC44A5_uc010ora.1_Missense_Mutation_p.F562V|SLC44A5_uc010orb.1_Missense_Mutation_p.F438V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	568	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						CTGTTTAAAAACTTTATTGCA	0.353												
FUBP1	8880	broad.mit.edu	37	1	78426155	78426155	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:78426155G>T	uc001dii.2	-	15	1459	c.1370C>A	c.(1369-1371)CCT>CAT	p.P457H	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P478H	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	457	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						ATGGGGTACAGGTGGCCCTAA	0.493												
CCBL2	56267	broad.mit.edu	37	1	89426867	89426867	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:89426867T>A	uc001dmp.2	-	8	1147	c.770A>T	c.(769-771)AAT>ATT	p.N257I	CCBL2_uc001dmq.2_Missense_Mutation_p.N223I|CCBL2_uc001dmr.2_Missense_Mutation_p.N93I	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	257					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAGTGCTTATTTCCAGAATA	0.383												
GBP3	2635	broad.mit.edu	37	1	89478880	89478880	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:89478880C>T	uc001dmt.2	-	6	1061	c.856G>A	c.(856-858)GTC>ATC	p.V286I	GBP3_uc010oss.1_Missense_Mutation_p.V207I|GBP3_uc001dmu.2_Missense_Mutation_p.V152I|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	286						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GGCCCATTGACCTTGATGCCT	0.333												
AGL	178	broad.mit.edu	37	1	100361928	100361928	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:100361928C>T	uc001dsi.1	+	25	3746	c.3346C>T	c.(3346-3348)CGC>TGC	p.R1116C	AGL_uc001dsj.1_Missense_Mutation_p.R1116C|AGL_uc001dsk.1_Missense_Mutation_p.R1116C|AGL_uc001dsl.1_Missense_Mutation_p.R1116C|AGL_uc001dsm.1_Missense_Mutation_p.R1100C|AGL_uc001dsn.1_Missense_Mutation_p.R1099C	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1116	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATTACTGGACGCTATGTAGA	0.408												
AMY2A	279	broad.mit.edu	37	1	104160223	104160223	+	Missense_Mutation	SNP	G	G	A	rs148925092		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:104160223G>A	uc001dut.2	+	1	225	c.161G>A	c.(160-162)GGG>GAG	p.G54E	AMY2A_uc010ouq.1_Missense_Mutation_p.G54E	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	54					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GGATTTGGAGGGGTTCAGGTG	0.413												
CELSR2	1952	broad.mit.edu	37	1	109813153	109813153	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:109813153C>T	uc001dxa.3	+	24	7475	c.7414C>T	c.(7414-7416)CGC>TGC	p.R2472C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2472	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACTGAGGTGCGCGATGTCAA	0.607												
GSTM4	2948	broad.mit.edu	37	1	110199841	110199841	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:110199841T>C	uc001dyf.2	+	3	431	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.P39P|GSTM4_uc001dyh.2_Silent_p.P39P|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	39	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGGCAGCTCCTGACTATGACA	0.567												
KCNA2	3737	broad.mit.edu	37	1	111147202	111147202	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111147202T>A	uc001dzu.2	-	2	699	c.203A>T	c.(202-204)TAC>TTC	p.Y68F	KCNA2_uc009wfv.1_Missense_Mutation_p.Y68F|KCNA2_uc009wfw.2_Missense_Mutation_p.Y68F	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	68						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGGGTCAAAGTACCTCATTCG	0.517												
KCNA3	3738	broad.mit.edu	37	1	111216300	111216300	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111216300A>G	uc001dzv.1	-	1	1356	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	378	Helical; Voltage-sensor; Name=Segment S4; (Potential).					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)		GAGTGGCGCGACAGCTTGAAG	0.592												
KCNA3	3738	broad.mit.edu	37	1	111216362	111216362	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111216362G>A	uc001dzv.1	-	1	1294	c.1070C>T	c.(1069-1071)GCC>GTC	p.A357V		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	357						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)		CAGAGACATGGCCTGCTGTCC	0.562												
DRAM2	128338	broad.mit.edu	37	1	111667451	111667451	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111667451T>C	uc001ead.3	-	5	509	c.252A>G	c.(250-252)GAA>GAG	p.E84E	DRAM2_uc001eae.3_Silent_p.E84E|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Intron	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	84					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						TAACGTTCTCTTCAGGACTCA	0.353												
RSBN1	54665	broad.mit.edu	37	1	114308955	114308955	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114308955A>G	uc001edq.2	-	7	2092	c.2056T>C	c.(2056-2058)TTC>CTC	p.F686L	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	686						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTTTTGAACTGATGAATG	0.423												
DCLRE1B	64858	broad.mit.edu	37	1	114454003	114454003	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114454003C>T	uc001eeg.2	+	4	960	c.789C>T	c.(787-789)AGC>AGT	p.S263S	DCLRE1B_uc001eeh.2_Silent_p.S137S|DCLRE1B_uc001eei.2_Silent_p.S137S	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	263					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCCACAGCTCCCACCCTG	0.532								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
HIPK1	204851	broad.mit.edu	37	1	114516066	114516066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114516066C>T	uc001eem.2	+	16	3726	c.3565C>T	c.(3565-3567)CGA>TGA	p.R1189*	HIPK1_uc001een.2_Nonsense_Mutation_p.R1189*|HIPK1_uc001eeo.2_Nonsense_Mutation_p.R815*|HIPK1_uc001eep.2_Nonsense_Mutation_p.R795*|HIPK1_uc001eeq.2_Nonsense_Mutation_p.R481*	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGTCTTCCCGAGGCTCAAC	0.542												
HMGCS2	3158	broad.mit.edu	37	1	120298076	120298076	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:120298076G>A	uc001eid.2	-	6	1212	c.1161C>T	c.(1159-1161)TAC>TAT	p.Y387Y	HMGCS2_uc010oxj.1_Silent_p.Y345Y|HMGCS2_uc001eie.2_Silent_p.Y295Y	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	387					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCAGGCACCCGTACAGGGATG	0.562												
NOTCH2	4853	broad.mit.edu	37	1	120491722	120491722	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:120491722G>T	uc001eik.2	-	16	2763	c.2507C>A	c.(2506-2508)CCC>CAC	p.P836H	NOTCH2_uc001eil.2_Missense_Mutation_p.P836H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	836	Extracellular (Potential).|EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGAACAGGGAGCCAATAC	0.413			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLEKHO1	51177	broad.mit.edu	37	1	150131589	150131589	+	Silent	SNP	C	C	T	rs148396210		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150131589C>T	uc001ett.2	+	6	1379	c.1101C>T	c.(1099-1101)AGC>AGT	p.S367S	PLEKHO1_uc001etr.2_Silent_p.S195S|PLEKHO1_uc001ets.2_Silent_p.S184S|PLEKHO1_uc001etu.2_Silent_p.S195S	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	367	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAATTGGAGCCAGGCAAAGA	0.627												
ADAMTSL4	54507	broad.mit.edu	37	1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150528719C>T	uc001eux.2	+	9	1689	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R485C|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R508C|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R508C|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	485					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)			TTCTACCTGTCGCCTTGTTTC	0.612												
PIP5K1A	8394	broad.mit.edu	37	1	151219440	151219440	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151219440A>G	uc001exj.2	+	15	2137	c.1685A>G	c.(1684-1686)CAT>CGT	p.H562R	PIP5K1A_uc001exi.2_Missense_Mutation_p.H549R|PIP5K1A_uc010pcu.1_Missense_Mutation_p.H522R|PIP5K1A_uc001exk.2_Missense_Mutation_p.H500R|PIP5K1A_uc010pcv.1_Missense_Mutation_p.I227V	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	562					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTCACCCATGTGAGTATC	0.413												
TUFT1	7286	broad.mit.edu	37	1	151538676	151538676	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151538676C>A	uc001eyl.2	+	6	514	c.452C>A	c.(451-453)CCC>CAC	p.P151H	TUFT1_uc001eym.2_Missense_Mutation_p.P126H|TUFT1_uc010pdf.1_Missense_Mutation_p.P170H|TUFT1_uc010pdg.1_Missense_Mutation_p.P99H	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	151					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCAGAGTCCCACAGCCCTG	0.468												
FLG	2312	broad.mit.edu	37	1	152286203	152286203	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:152286203C>T	uc001ezu.1	-	3	1195	c.1159G>A	c.(1159-1161)GGC>AGC	p.G387S	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	387	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCCGGATCCATGT	0.582									Ichthyosis			
S100A3	6274	broad.mit.edu	37	1	153520175	153520175	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153520175G>A	uc001fca.1	-	3	372	c.289C>T	c.(289-291)CCC>TCC	p.P97S	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	97							calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622												
S100A16	140576	broad.mit.edu	37	1	153580513	153580513	+	Missense_Mutation	SNP	G	G	A	rs142272783		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153580513G>A	uc001fcc.2	-	2	248	c.115C>T	c.(115-117)CGC>TGC	p.R39C	S100A16_uc001fcd.1_Missense_Mutation_p.R39C	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	39	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCATCTCGCGGAAGCTGCTC	0.547												
INTS3	65123	broad.mit.edu	37	1	153732081	153732081	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153732081T>C	uc009wom.2	+	12	1450	c.1229T>C	c.(1228-1230)ATG>ACG	p.M410T	INTS3_uc001fct.2_Missense_Mutation_p.M410T|INTS3_uc001fcu.2_Missense_Mutation_p.M102T|INTS3_uc001fcv.2_Missense_Mutation_p.M204T|INTS3_uc010peb.1_Missense_Mutation_p.M204T|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	411					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATAGCATTATGAACATAGGT	0.498												
ATP8B2	57198	broad.mit.edu	37	1	154302881	154302881	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:154302881G>T	uc001fey.1	+	2	287	c.98G>T	c.(97-99)AGG>ATG	p.R33M	ATP8B2_uc001few.2_Missense_Mutation_p.R14M|ATP8B2_uc001fex.2_Missense_Mutation_p.R47M	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	33	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGAAGAAAGGAGGGCGCGG	0.493												
PBXIP1	57326	broad.mit.edu	37	1	154924376	154924376	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:154924376C>A	uc001ffr.2	-	3	132	c.73G>T	c.(73-75)GGC>TGC	p.G25C	PBXIP1_uc001ffs.2_5'UTR|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	25					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GATGCCGGGCCCAGTGTCTCC	0.597												
GBA	2629	broad.mit.edu	37	1	155209427	155209427	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155209427T>C	uc001fjh.2	-	4	584	c.434A>G	c.(433-435)AAA>AGA	p.K145R	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.K145R|GBA_uc001fjj.2_Missense_Mutation_p.K145R|GBA_uc001fjk.2_Missense_Mutation_p.K145R|GBA_uc001fjl.2_Missense_Mutation_p.K145R|GBA_uc010pfy.1_Missense_Mutation_p.K58R|GBA_uc009wqk.1_Missense_Mutation_p.K58R	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	145					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GAAGTACGATTTAAGTAGCAA	0.393									Gaucher_disease_type_I			
CLK2	1196	broad.mit.edu	37	1	155233743	155233743	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155233743G>A	uc001fjy.2	-	12	1605	c.1315C>T	c.(1315-1317)CGG>TGG	p.R439W	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R438W|CLK2_uc001fjx.2_Missense_Mutation_p.R211W|CLK2_uc009wqm.2_Missense_Mutation_p.R439W	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	439	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCTCACCCGCAGCGGTTTG	0.532								Other_conserved_DNA_damage_response_genes				
CLK2	1196	broad.mit.edu	37	1	155234303	155234303	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155234303C>A	uc001fjy.2	-	10	1392	c.1102G>T	c.(1102-1104)GGC>TGC	p.G368C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.G367C|CLK2_uc001fjx.2_Missense_Mutation_p.G140C|CLK2_uc009wqm.2_Missense_Mutation_p.G368C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	368	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGATGCAGCCTATACTCCAC	0.498								Other_conserved_DNA_damage_response_genes				
CCT3	7203	broad.mit.edu	37	1	156286984	156286984	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:156286984C>A	uc001fol.1	-	10	1167	c.947G>T	c.(946-948)CGG>CTG	p.R316L	CCT3_uc001fom.1_Missense_Mutation_p.R315L|CCT3_uc001fon.1_Missense_Mutation_p.R278L|CCT3_uc010phj.1_Missense_Mutation_p.R270L|CCT3_uc010phk.1_Missense_Mutation_p.R270L|CCT3_uc010phl.1_Missense_Mutation_p.R270L	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	316					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GTCTGTCTTCCGGACTCTGCG	0.448												
MRPL24	79590	broad.mit.edu	37	1	156707482	156707482	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:156707482G>T	uc001fpw.1	-	5	609	c.470C>A	c.(469-471)CCC>CAC	p.P157H	MRPL24_uc001fpx.1_Missense_Mutation_p.P157H	NM_024540	NP_078816	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24 precursor	157					translation	mitochondrion|ribosome	structural constituent of ribosome				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGAAATTCGGGTTTAGGGAT	0.542												
OR10X1	128367	broad.mit.edu	37	1	158549613	158549613	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158549613T>C	uc010pin.1	-	1	77	c.77A>G	c.(76-78)AAG>AGG	p.K26R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AATGAATTCCTTCAGGATTGT	0.363												
SPTA1	6708	broad.mit.edu	37	1	158639307	158639307	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158639307C>T	uc001fst.1	-	14	1923	c.1724G>A	c.(1723-1725)CGT>CAT	p.R575H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575	Spectrin 6.				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)					CAGCAATCTACGTCTAGTGGC	0.443												
PYHIN1	149628	broad.mit.edu	37	1	158911972	158911972	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158911972A>G	uc001ftb.2	+	5	1030	c.785A>G	c.(784-786)AAA>AGA	p.K262R	PYHIN1_uc001ftc.2_Missense_Mutation_p.K253R|PYHIN1_uc001ftd.2_Missense_Mutation_p.K262R|PYHIN1_uc001fte.2_Missense_Mutation_p.K253R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	262	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					TTGAAGAGGAAATTCATTAAA	0.368												
OR10J3	441911	broad.mit.edu	37	1	159284045	159284045	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:159284045G>T	uc010piu.1	-	1	405	c.405C>A	c.(403-405)GTC>GTA	p.V135V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TACCCATGATGACTGAATACC	0.507												
ITLN1	55600	broad.mit.edu	37	1	160851038	160851038	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:160851038G>T	uc001fxc.2	-	5	586	c.470C>A	c.(469-471)CCC>CAC	p.P157H		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	157	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGCTGCATGGGGGACTTATT	0.572												
ADAMTS4	9507	broad.mit.edu	37	1	161166670	161166670	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:161166670G>A	uc001fyt.3	-	2	1062	c.634C>T	c.(634-636)CGC>TGC	p.R212C	ADAMTS4_uc001fyu.2_Missense_Mutation_p.R212C|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	212					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAAGCAAAGCGCTGTAGAGAA	0.527												
FCRLB	127943	broad.mit.edu	37	1	161697204	161697204	+	Missense_Mutation	SNP	G	G	A	rs145348831		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:161697204G>A	uc001gbh.2	+	8	1267	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	FCRLB_uc009wus.2_Missense_Mutation_p.G345S|FCRLB_uc001gbj.2_Silent_p.A296A|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.A289A|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.G345S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	345						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCCGGCGAGCGGCGCCCCGAC	0.677												
TADA1	117143	broad.mit.edu	37	1	166827446	166827446	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:166827446C>T	uc001gdw.2	-	7	949	c.765G>A	c.(763-765)CAG>CAA	p.Q255Q	TADA1_uc001gdv.2_Silent_p.Q113Q	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	255					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						GTGCAGCCTGCTGCTCAGCAT	0.502												
GPA33	10223	broad.mit.edu	37	1	167038309	167038309	+	Missense_Mutation	SNP	C	C	T	rs139630164		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:167038309C>T	uc001gea.1	-	3	609	c.265G>A	c.(265-267)GTC>ATC	p.V89I		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	89	Ig-like V-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						GATATGCTGACGCGATTCTTA	0.493												
F5	2153	broad.mit.edu	37	1	169498918	169498918	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:169498918A>G	uc001ggg.1	-	16	5492	c.5347T>C	c.(5347-5349)TAC>CAC	p.Y1783H		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1783	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTCATAGTACCAGCTCTTC	0.373												
SERPINC1	462	broad.mit.edu	37	1	173881070	173881070	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:173881070C>T	uc001gjt.2	-	3	610	c.491G>A	c.(490-492)CGA>CAA	p.R164Q		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	164					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTTGGCTTTTCGATAGAGTCG	0.398												
FAM5B	57795	broad.mit.edu	37	1	177198951	177198951	+	Translation_Start_Site	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:177198951G>T	uc001glf.2	+	2	251	c.-61G>T	c.(-63--59)GAGGA>GATGA			NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B							extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GAGCCCTGGAGGAGCAGCACG	0.567												
TOR3A	64222	broad.mit.edu	37	1	179063240	179063240	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:179063240C>T	uc001gmd.2	+	5	983	c.831C>T	c.(829-831)GGC>GGT	p.G277G	TOR3A_uc010pnd.1_Silent_p.G61G	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	277					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1						ATCTCAGGGGCGATATAATCA	0.458												
TOR1AIP1	26092	broad.mit.edu	37	1	179852002	179852002	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:179852002T>C	uc001gnq.2	+	1	583	c.365T>C	c.(364-366)ATG>ACG	p.M122T	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.M122T	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	122	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						ACCGAGGAAATGAAGACGCGA	0.597												
CACNA1E	777	broad.mit.edu	37	1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:181702035G>A	uc001gow.2	+	20	2978	c.2813G>A	c.(2812-2814)CGG>CAG	p.R938Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.R826Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R164Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R164Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	938	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCAGCCTCCCGGAGCAGGTCT	0.642												
ZNF648	127665	broad.mit.edu	37	1	182026619	182026619	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:182026619G>A	uc001goz.2	-	2	735	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTTTTGTGCGCACAGAGATA	0.567												
RGS8	85397	broad.mit.edu	37	1	182638780	182638780	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:182638780G>A	uc010pnw.1	-	3	263	c.5C>T	c.(4-6)GCG>GTG	p.A2V	RGS8_uc001gpn.1_Missense_Mutation_p.A2V|RGS8_uc001gpm.1_Intron	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	2					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CAGTAAGGCCGCCATACAGGC	0.522												
HMCN1	83872	broad.mit.edu	37	1	185986140	185986140	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:185986140T>C	uc001grq.1	+	33	5466	c.5237T>C	c.(5236-5238)GTG>GCG	p.V1746A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1746	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACTTCATTGTGATGGTTAAT	0.393												
HMCN1	83872	broad.mit.edu	37	1	186114659	186114659	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186114659G>T	uc001grq.1	+	92	14620	c.14391G>T	c.(14389-14391)GGG>GGT	p.G4797G	HMCN1_uc001grs.1_Silent_p.G366G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4797	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAGCTTGTGGGGGACCAGACT	0.547												
TPR	7175	broad.mit.edu	37	1	186325512	186325512	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186325512C>T	uc001grv.2	-	15	2091	c.1794G>A	c.(1792-1794)CAG>CAA	p.Q598Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	598	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCATTTGATGCTGTCGTGATT	0.428			T	NTRK1	papillary thyroid							
LHX9	56956	broad.mit.edu	37	1	197889132	197889132	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:197889132G>A	uc001guk.1	+	2	642	c.205G>A	c.(205-207)GCC>ACC	p.A69T	LHX9_uc001gui.1_Missense_Mutation_p.A60T|LHX9_uc001guj.1_Missense_Mutation_p.A75T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	69	LIM zinc-binding 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						GGAGAAGCCCGCCCTGTGCGC	0.642												
ZNF281	23528	broad.mit.edu	37	1	200377574	200377574	+	Silent	SNP	G	G	A	rs149361792		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:200377574G>A	uc001gve.2	-	2	1367	c.1260C>T	c.(1258-1260)ACC>ACT	p.T420T	ZNF281_uc001gvf.1_Silent_p.T420T|ZNF281_uc001gvg.1_Silent_p.T384T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	420					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TTGTTTTACCGGTCTTCTGTT	0.373												
NAV1	89796	broad.mit.edu	37	1	201750154	201750154	+	Silent	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:201750154A>C	uc001gwu.2	+	5	1727	c.1380A>C	c.(1378-1380)TCA>TCC	p.S460S	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Silent_p.S69S|NAV1_uc001gwx.2_Silent_p.S69S|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	460					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GCACAGACTCAGAGAAGCGCT	0.463												
GPR37L1	9283	broad.mit.edu	37	1	202092489	202092489	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:202092489T>C	uc001gxj.2	+	1	461	c.398T>C	c.(397-399)ATC>ACC	p.I133T		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	133	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GCCTATGCCATCATGCTTCTG	0.582												
PPFIA4	8497	broad.mit.edu	37	1	203044731	203044731	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:203044731G>A	uc001gyz.2	+	16	2495	c.1902G>A	c.(1900-1902)GCG>GCA	p.A634A	PPFIA4_uc009xaj.2_Silent_p.A1265A|PPFIA4_uc010pqf.1_Silent_p.A847A|PPFIA4_uc001gza.2_Silent_p.A625A|PPFIA4_uc001gzb.1_Silent_p.A320A|PPFIA4_uc001gzc.1_Silent_p.A176A	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	634					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TTCGCCGCGCGCCCTCCTGGA	0.711												
CNTN2	6900	broad.mit.edu	37	1	205039153	205039153	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:205039153G>A	uc001hbr.2	+	18	2664	c.2395G>A	c.(2395-2397)GAG>AAG	p.E799K	CNTN2_uc001hbq.1_Missense_Mutation_p.E690K|CNTN2_uc001hbs.2_Missense_Mutation_p.E587K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	799	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGATGGGCCCGAGAGCCTCAC	0.647												
RCOR3	55758	broad.mit.edu	37	1	211469082	211469082	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:211469082T>A	uc001hig.2	+	8	999	c.830T>A	c.(829-831)TTC>TAC	p.F277Y	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.F335Y|RCOR3_uc010psw.1_Missense_Mutation_p.F335Y|RCOR3_uc001hif.2_Missense_Mutation_p.F335Y	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTGAAGAATTCAAACCTCCT	0.353												
NEK2	4751	broad.mit.edu	37	1	211842578	211842578	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:211842578G>T	uc001hir.1	-	6	1008	c.862C>A	c.(862-864)CGA>AGA	p.R288R	NEK2_uc001hiq.1_Silent_p.R288R|NEK2_uc001his.3_Silent_p.R288R|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	288	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		CCTAATTGTCGCCCTCTTCTC	0.448												
INTS7	25896	broad.mit.edu	37	1	212180670	212180670	+	Silent	SNP	C	C	T	rs150638626	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:212180670C>T	uc001hiw.1	-	6	783	c.678G>A	c.(676-678)CCG>CCA	p.P226P	INTS7_uc009xdb.1_Silent_p.P226P|INTS7_uc001hix.1_Silent_p.P102P|INTS7_uc001hiy.1_Silent_p.P226P|INTS7_uc010pta.1_Silent_p.P177P	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	226					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTTTGGTGGACGGATAGGATG	0.423												
PROX1	5629	broad.mit.edu	37	1	214170355	214170355	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:214170355T>A	uc001hkh.2	+	2	749	c.477T>A	c.(475-477)GAT>GAA	p.D159E	PROX1_uc001hkg.1_Missense_Mutation_p.D159E	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	159					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCTTATGTGATGAGCACCTGA	0.493												
DISP1	84976	broad.mit.edu	37	1	223177115	223177115	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:223177115C>T	uc001hnu.1	+	8	2523	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	792					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TAATCTGGGGCGTGTCCCCAG	0.473												
TMEM63A	9725	broad.mit.edu	37	1	226054855	226054855	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:226054855G>A	uc001hpm.1	-	8	773	c.523C>T	c.(523-525)CCG>TCG	p.P175S	TMEM63A_uc010pvi.1_Missense_Mutation_p.P175S	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	175						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AAACTATACGGGTCTTTGTCT	0.527												
CABC1	56997	broad.mit.edu	37	1	227152949	227152949	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:227152949C>T	uc001hqm.1	+	8	3845	c.426C>T	c.(424-426)AAC>AAT	p.N142N	CABC1_uc010pvp.1_Silent_p.N105N|CABC1_uc001hqn.1_Silent_p.N142N|CABC1_uc009xeq.1_Silent_p.N90N|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	142					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GCAGGGCCAACGGGAGGCTCT	0.642												
PRSS38	339501	broad.mit.edu	37	1	228003897	228003897	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228003897C>T	uc001hrh.2	+	2	255	c.255C>T	c.(253-255)TGC>TGT	p.C85C		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						TCCACGTCTGCGGCGGCTCCA	0.672												
PRSS38	339501	broad.mit.edu	37	1	228033279	228033279	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228033279C>A	uc001hrh.2	+	4	692	c.692C>A	c.(691-693)GCT>GAT	p.A231D		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	231	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						ATGCTGTGTGCTGGGGACATC	0.607												
WNT9A	7483	broad.mit.edu	37	1	228109597	228109597	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228109597G>A	uc001hri.2	-	4	808	c.720C>T	c.(718-720)GGC>GGT	p.G240G		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	240					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TCAGATGCTTGCCCACCTCAT	0.642												
OBSCN	84033	broad.mit.edu	37	1	228466970	228466970	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228466970G>A	uc009xez.1	+	27	7265	c.7221G>A	c.(7219-7221)GTG>GTA	p.V2407V	OBSCN_uc001hsn.2_Silent_p.V2407V|OBSCN_uc001hsp.1_Silent_p.V106V|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2407					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCCCTCAGTGCGGCCACCTA	0.642												
OBSCN	84033	broad.mit.edu	37	1	228504492	228504492	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228504492C>T	uc009xez.1	+	51	13412	c.13368C>T	c.(13366-13368)AGC>AGT	p.S4456S	OBSCN_uc001hsn.2_Silent_p.S4456S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4456	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCACGCTCAGCGAGGCGGTGC	0.677												
OBSCN	84033	broad.mit.edu	37	1	228528927	228528927	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228528927C>A	uc009xez.1	+	73	17873	c.17829C>A	c.(17827-17829)GTC>GTA	p.V5943V	OBSCN_uc001hsn.2_Silent_p.V5943V|OBSCN_uc001hsr.1_Silent_p.V572V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5943	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGATACCGTCAGCTACGTGT	0.657												
OBSCN	84033	broad.mit.edu	37	1	228550350	228550350	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228550350C>T	uc009xez.1	+	80	18779	c.18735C>T	c.(18733-18735)GGC>GGT	p.G6245G	OBSCN_uc001hsr.1_Silent_p.G874G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6245					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCGCCAGGCCCCTCCACAG	0.677												
NUP133	55746	broad.mit.edu	37	1	229635518	229635518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:229635518C>T	uc001htn.2	-	5	653	c.561G>A	c.(559-561)TGG>TGA	p.W187*		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	187					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CAAGGCTTGGCCAATAGCGGA	0.448												
ABCB10	23456	broad.mit.edu	37	1	229683388	229683388	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:229683388A>G	uc001htp.3	-	3	822	c.779T>C	c.(778-780)GTT>GCT	p.V260A		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	260	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAGAAAGCAACCTCCTGCCT	0.493												
C1orf131	128061	broad.mit.edu	37	1	231374652	231374652	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:231374652T>C	uc001hun.1	-	2	438	c.401A>G	c.(400-402)CAC>CGC	p.H134R	C1orf131_uc001hul.2_Missense_Mutation_p.H134R|C1orf131_uc001hum.2_Missense_Mutation_p.H134R|C1orf131_uc010pwd.1_Missense_Mutation_p.H134R|C1orf131_uc001huo.1_Missense_Mutation_p.H134R|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.3_5'Flank|GNPAT_uc009xfp.2_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	134										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTATTGCTGTGAAATTCTAC	0.438												
SIPA1L2	57568	broad.mit.edu	37	1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:232626679G>A	uc001hvg.2	-	3	1905	c.1747C>T	c.(1747-1749)CGA>TGA	p.R583*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	583					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463												
LYST	1130	broad.mit.edu	37	1	235887386	235887386	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:235887386G>T	uc001hxj.2	-	39	9432	c.9257C>A	c.(9256-9258)GCT>GAT	p.A3086D	LYST_uc001hxi.2_Missense_Mutation_p.A310D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3086					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATTTCTACAGCATTATCTCT	0.368									Chediak-Higashi_syndrome			
NID1	4811	broad.mit.edu	37	1	236144978	236144978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:236144978G>A	uc001hxo.2	-	16	3262	c.3160C>T	c.(3160-3162)CAG>TAG	p.Q1054*	NID1_uc009xgd.2_Nonsense_Mutation_p.Q921*|NID1_uc009xgc.2_Nonsense_Mutation_p.Q135*	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1054	LDL-receptor class B 2.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ACCCGGCGCTGCGTGCCGTCC	0.507												
CEP170	9859	broad.mit.edu	37	1	243349251	243349251	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:243349251T>G	uc001hzs.2	-	10	1804	c.1396A>C	c.(1396-1398)AGT>CGT	p.S466R	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	466						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCCCAAGACTCCCTGAACTT	0.413												
NLRP3	114548	broad.mit.edu	37	1	247588075	247588075	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:247588075G>A	uc001icr.2	+	5	1468	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I	NLRP3_uc001ics.2_Missense_Mutation_p.V444I|NLRP3_uc001icu.2_Missense_Mutation_p.V444I|NLRP3_uc001icw.2_Missense_Mutation_p.V444I|NLRP3_uc001icv.2_Missense_Mutation_p.V444I|NLRP3_uc010pyw.1_Missense_Mutation_p.V442I|NLRP3_uc001ict.1_Missense_Mutation_p.V442I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	444	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCGGTGTACGTCTTCTTCCT	0.612												
TRIM58	25893	broad.mit.edu	37	1	248039478	248039478	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248039478C>A	uc001ido.2	+	6	1196	c.1148C>A	c.(1147-1149)GCC>GAC	p.A383D	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	383	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGGTCTGGGCCCTGTGGCTG	0.552												
TRIM58	25893	broad.mit.edu	37	1	248039617	248039617	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248039617T>C	uc001ido.2	+	6	1335	c.1287T>C	c.(1285-1287)GAT>GAC	p.D429D	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	429	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGTCACAGATGGATCTTATA	0.443												
OR2L8	391190	broad.mit.edu	37	1	248112583	248112583	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248112583C>T	uc001idt.1	+	1	424	c.424C>T	c.(424-426)CTG>TTG	p.L142L	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGTGTGTGTGCTGATGATAAC	0.443												
OR2T3	343173	broad.mit.edu	37	1	248637306	248637306	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248637306A>G	uc001iel.1	+	1	655	c.655A>G	c.(655-657)ATC>GTC	p.I219V		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCATGGTCATCTCCAGCTC	0.567												
PITRM1	10531	broad.mit.edu	37	10	3193501	3193501	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:3193501G>A	uc010qah.1	-	14	1612	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V	PITRM1_uc001igr.1_Missense_Mutation_p.A559V|PITRM1_uc001igt.1_Missense_Mutation_p.A559V|PITRM1_uc009xhv.1_Missense_Mutation_p.A124V|PITRM1_uc001igu.1_Missense_Mutation_p.A551V|PITRM1_uc010qai.1_Missense_Mutation_p.A530V|PITRM1_uc001igw.1_Missense_Mutation_p.A559V			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	527					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AACTTTCAACGCTGGCAGACA	0.448												
ITIH5	80760	broad.mit.edu	37	10	7621950	7621950	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:7621950G>A	uc001ijq.2	-	9	1265	c.1186C>T	c.(1186-1188)CGG>TGG	p.R396W	ITIH5_uc001ijp.2_Missense_Mutation_p.R182W|ITIH5_uc001ijr.1_Missense_Mutation_p.R396W	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	396	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GACACGCTCCGGTCTCCAATG	0.627												
GATA3	2625	broad.mit.edu	37	10	8100470	8100470	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:8100470G>A	uc001ika.2	+	3	1001	c.444G>A	c.(442-444)CCG>CCA	p.P148P	GATA3_uc001ijz.2_Silent_p.P148P	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	148					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						ACGCCAGCCCGCACCTCTTCA	0.731			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
CDNF	441549	broad.mit.edu	37	10	14867476	14867476	+	Splice_Site	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:14867476A>G	uc001inb.1	-	3	423	c.385_splice	c.e3+1	p.E129_splice	CDNF_uc010qbv.1_Intron|CDNF_uc001inc.1_Splice_Site_p.E20_splice	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage							extracellular region	growth factor activity				0						GCTGTGTTATACCATATTTCA	0.423												
PLXDC2	84898	broad.mit.edu	37	10	20453421	20453421	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:20453421A>T	uc001iqg.1	+	7	1445	c.808A>T	c.(808-810)AGT>TGT	p.S270C	PLXDC2_uc001iqh.1_Missense_Mutation_p.S221C|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	270	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CACACAGATAAGTTCAACCAA	0.428												
NEBL	10529	broad.mit.edu	37	10	21117557	21117557	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:21117557A>G	uc001iqi.2	-	17	2075	c.1678T>C	c.(1678-1680)TAT>CAT	p.Y560H	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	560	Nebulin 15.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TCATCTTTATACTTTCTCTAA	0.269												
PTCHD3	374308	broad.mit.edu	37	10	27702960	27702960	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:27702960C>T	uc001itu.2	-	1	338	c.220G>A	c.(220-222)GCA>ACA	p.A74T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	74					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CGGGGGGGTGCATCGTCCCCC	0.716												
SVIL	6840	broad.mit.edu	37	10	29754537	29754537	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:29754537G>A	uc001iut.1	-	34	6873	c.6120C>T	c.(6118-6120)AGC>AGT	p.S2040S	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.S954S|SVIL_uc001iuu.1_Silent_p.S1614S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2040	Gelsolin-like 5.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GCTGGGGCGCGCTGTACAGAT	0.537												
HNRNPF	3185	broad.mit.edu	37	10	43882582	43882582	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:43882582C>T	uc009xmh.1	-	3	1238	c.751G>A	c.(751-753)GAT>AAT	p.D251N	HNRNPF_uc001jar.2_Missense_Mutation_p.D251N|HNRNPF_uc001jas.2_Missense_Mutation_p.D251N|HNRNPF_uc001jat.2_Missense_Mutation_p.D251N|HNRNPF_uc001jav.2_Missense_Mutation_p.D251N|HNRNPF_uc001jau.2_Missense_Mutation_p.D251N|uc010qfa.1_Silent_p.I88I	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	251					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						CCGTAGCCATCACTGAGGCCA	0.577												
ZNF239	8187	broad.mit.edu	37	10	44052829	44052829	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:44052829T>G	uc001jaw.3	-	2	1352	c.699A>C	c.(697-699)AAA>AAC	p.K233N	ZNF239_uc001jax.3_Missense_Mutation_p.K233N|ZNF239_uc009xmj.2_Missense_Mutation_p.K233N|ZNF239_uc009xmk.2_Missense_Mutation_p.K233N	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						ATTTGTAGGGTTTTTCTTCTG	0.453												
ANUBL1	93550	broad.mit.edu	37	10	46121505	46121505	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:46121505C>T	uc001jcp.3	-	7	2008	c.1766G>A	c.(1765-1767)GGC>GAC	p.G589D	ANUBL1_uc001jcl.3_Missense_Mutation_p.G109D|ANUBL1_uc001jcm.3_Missense_Mutation_p.G589D|ANUBL1_uc009xmu.2_Missense_Mutation_p.G515D|ANUBL1_uc001jcn.3_Missense_Mutation_p.G515D|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	589							zinc ion binding				0						CTGAAGCCTGCCTGCCCCACG	0.463												
DKK1	22943	broad.mit.edu	37	10	54074209	54074209	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:54074209C>T	uc001jjr.2	+	1	169	c.15C>T	c.(13-15)GGC>GGT	p.G5G	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	5					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TGGCTCTGGGCGCAGCGGGAG	0.602											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZWINT	11130	broad.mit.edu	37	10	58119262	58119262	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:58119262A>G	uc001jjx.1	-	5	492	c.455T>C	c.(454-456)GTC>GCC	p.V152A	ZWINT_uc001jjy.1_Missense_Mutation_p.V152A|ZWINT_uc001jka.1_Missense_Mutation_p.V152A|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	152	Interaction with NDC80 and ZW10.|Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CTGGTTCTGGACTGCTCTGCG	0.478												
ANK3	288	broad.mit.edu	37	10	61833637	61833637	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:61833637G>A	uc001jky.2	-	37	7194	c.7002C>T	c.(7000-7002)ATC>ATT	p.I2334I	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2334					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TACCTTTTTCGATGTGGACTT	0.428												
JMJD1C	221037	broad.mit.edu	37	10	64936152	64936152	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:64936152G>A	uc001jmn.2	-	24	7606	c.7306C>T	c.(7306-7308)CGT>TGT	p.R2436C	JMJD1C_uc001jml.2_Missense_Mutation_p.R2199C|JMJD1C_uc001jmm.2_Missense_Mutation_p.R2148C|JMJD1C_uc010qiq.1_Missense_Mutation_p.R2254C|JMJD1C_uc009xpi.2_Missense_Mutation_p.R2254C|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_RNA	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2436	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCCTTTGACGGAGCTTTTTG	0.393												
JMJD1C	221037	broad.mit.edu	37	10	64958334	64958334	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:64958334A>G	uc001jmn.2	-	12	5730	c.5430T>C	c.(5428-5430)GGT>GGC	p.G1810G	JMJD1C_uc001jml.2_Silent_p.G1591G|JMJD1C_uc001jmm.2_Silent_p.G1522G|JMJD1C_uc010qiq.1_Silent_p.G1628G|JMJD1C_uc009xpi.2_Silent_p.G1628G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1810					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAACTTATCACCTATTATAT	0.313												
HERC4	26091	broad.mit.edu	37	10	69792621	69792621	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:69792621A>G	uc001jng.3	-	7	1002	c.691T>C	c.(691-693)TAT>CAT	p.Y231H	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.Y231H|HERC4_uc009xpr.2_Missense_Mutation_p.Y231H|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Missense_Mutation_p.Y231H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	231	RCC1 5.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTAGGAACATACCTATCTGAA	0.323												
HK1	3098	broad.mit.edu	37	10	71144668	71144668	+	Silent	SNP	C	C	T	rs143834023		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:71144668C>T	uc001jpl.3	+	12	1937	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	HK1_uc001jpg.3_Silent_p.D600D|HK1_uc001jph.3_Silent_p.D616D|HK1_uc001jpi.3_Silent_p.D616D|HK1_uc001jpj.3_Silent_p.D647D|HK1_uc001jpk.3_Silent_p.D611D|HK1_uc009xqd.2_Silent_p.D490D	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	612	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CGAGTCTGGACGCGGTGAGTC	0.592												
H2AFY2	55506	broad.mit.edu	37	10	71868937	71868937	+	Silent	SNP	C	C	A	rs116103919	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:71868937C>A	uc001jqm.2	+	8	1386	c.927C>A	c.(925-927)GTC>GTA	p.V309V	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	309	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TAAAGTCCGTCGCGTTCCCGC	0.547												
CHST3	9469	broad.mit.edu	37	10	73767332	73767332	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:73767332C>T	uc001jsn.2	+	3	983	c.543C>T	c.(541-543)GCC>GCT	p.A181A		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	181	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						GCGCCAACGCCGCGGGCTCGG	0.652												
SEC24C	9632	broad.mit.edu	37	10	75530210	75530210	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75530210G>A	uc001juw.2	+	22	3214	c.3035G>A	c.(3034-3036)AGT>AAT	p.S1012N	SEC24C_uc001jux.2_Missense_Mutation_p.S1012N|SEC24C_uc010qko.1_Missense_Mutation_p.S893N|SEC24C_uc010qkp.1_Missense_Mutation_p.S260N|SEC24C_uc010qkq.1_Missense_Mutation_p.S260N|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	1012					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCCTCCTTCAGTCAGATCACC	0.483												
KIAA0913	23053	broad.mit.edu	37	10	75560431	75560431	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75560431C>T	uc009xrl.2	+	24	5077	c.5045C>T	c.(5044-5046)GCA>GTA	p.A1682V	KIAA0913_uc001jve.2_Missense_Mutation_p.A1687V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1500V|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A1109V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A1097V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A1097V|KIAA0913_uc009xrn.1_Missense_Mutation_p.A93V	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1682							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGTCGCCGGGCACACAACGAT	0.572												
VCL	7414	broad.mit.edu	37	10	75834640	75834640	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75834640T>C	uc001jwd.2	+	6	856	c.762T>C	c.(760-762)GAT>GAC	p.D254D	VCL_uc009xrr.2_5'UTR|VCL_uc010qky.1_Silent_p.D161D|VCL_uc001jwe.2_Silent_p.D254D|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	254	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CCTCTTGGGATGAAGATGCCT	0.423												
MYST4	23522	broad.mit.edu	37	10	76790391	76790391	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:76790391G>A	uc001jwn.1	+	18	6302	c.5809G>A	c.(5809-5811)GCC>ACC	p.A1937T	MYST4_uc001jwo.1_Missense_Mutation_p.A1645T|MYST4_uc001jwp.1_Missense_Mutation_p.A1754T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1937	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ACCAGCCGCTGCCACCCATCA	0.522			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78669765	78669765	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:78669765T>C	uc001jxn.2	-	25	3283	c.3106A>G	c.(3106-3108)ACA>GCA	p.T1036A	KCNMA1_uc001jxj.2_Missense_Mutation_p.T982A|KCNMA1_uc001jxk.1_Missense_Mutation_p.T654A|KCNMA1_uc009xrt.1_Missense_Mutation_p.T827A|KCNMA1_uc001jxl.1_Missense_Mutation_p.T661A|KCNMA1_uc001jxo.2_Missense_Mutation_p.T1019A|KCNMA1_uc001jxm.2_Missense_Mutation_p.T978A|KCNMA1_uc001jxq.2_Missense_Mutation_p.T1008A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1036	Segment S10.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCAAATGCTGTCCCACAGGCA	0.483												
DLG5	9231	broad.mit.edu	37	10	79567608	79567608	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:79567608C>T	uc001jzk.2	-	25	4812	c.4742G>A	c.(4741-4743)CGC>CAC	p.R1581H	DLG5_uc001jzi.2_Missense_Mutation_p.R336H|DLG5_uc001jzj.2_Missense_Mutation_p.R996H|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1581	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCCTCAGGGCGGTACTGCAC	0.587												
POLR3A	11128	broad.mit.edu	37	10	79745713	79745713	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:79745713T>C	uc001jzn.2	-	23	3113	c.3019A>G	c.(3019-3021)ACC>GCC	p.T1007A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1007					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGGGTGGGGGTGATGCGGTCC	0.542												
LRIT2	340745	broad.mit.edu	37	10	85984521	85984521	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:85984521T>A	uc001kcy.2	-	2	468	c.460A>T	c.(460-462)ACC>TCC	p.T154S	LRIT2_uc010qmc.1_Missense_Mutation_p.T154S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	154	LRR 4.					integral to membrane				ovary(2)	2						TCAAGGTAGGTCAGGCTGACC	0.542												
WAPAL	23063	broad.mit.edu	37	10	88211855	88211855	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:88211855T>C	uc001kdo.2	-	15	3425	c.2983A>G	c.(2983-2985)AGT>GGT	p.S995G	WAPAL_uc009xsv.2_Intron|WAPAL_uc001kdn.2_Missense_Mutation_p.S1032G|WAPAL_uc009xsw.2_Missense_Mutation_p.S989G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	995	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TTCCGAGCACTATACTCCACT	0.383												
GLUD1	2746	broad.mit.edu	37	10	88820771	88820771	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:88820771T>C	uc001keh.2	-	7	1057	c.960A>G	c.(958-960)TTA>TTG	p.L320L	GLUD1_uc001keg.2_Silent_p.L153L|GLUD1_uc010qmp.1_Silent_p.L187L	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	320					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAAAACGATGTAAATATCTCA	0.393												
ACTA2	59	broad.mit.edu	37	10	90701123	90701123	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:90701123C>G	uc001kfp.2	-	6	595	c.479G>C	c.(478-480)GGT>GCT	p.G160A	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.G115A|ACTA2_uc001kfq.2_Missense_Mutation_p.G160A	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	160					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTGGGTGACACCATCTCCAGA	0.552												
MYOF	26509	broad.mit.edu	37	10	95079635	95079635	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:95079635C>T	uc001kin.2	-	49	5715	c.5592G>A	c.(5590-5592)GCG>GCA	p.A1864A	MYOF_uc001kio.2_Silent_p.A1851A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1864	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TCACTTTTTTCGCAACGATAC	0.348												
GPR120	338557	broad.mit.edu	37	10	95347331	95347331	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:95347331G>A	uc010qnt.1	+	4	1155	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I	GPR120_uc010qnu.1_Missense_Mutation_p.V351I	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	367	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				AGACACATCTGTCAAAAGAAA	0.413												
BLNK	29760	broad.mit.edu	37	10	97975104	97975104	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:97975104G>A	uc001kls.3	-	8	827	c.649C>T	c.(649-651)CCC>TCC	p.P217S	BLNK_uc001kme.3_Intron|BLNK_uc001klt.3_Intron|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Missense_Mutation_p.P135S|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Intron|BLNK_uc001kly.3_Missense_Mutation_p.P217S|BLNK_uc001klz.3_Intron|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Missense_Mutation_p.P13S|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P135S|BLNK_uc009xvd.2_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	217	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGAGAGGCGGGCGTTGAGGAA	0.353												
C10orf12	26148	broad.mit.edu	37	10	98743674	98743674	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:98743674A>T	uc001kmv.2	+	1	2634	c.2527A>T	c.(2527-2529)AAA>TAA	p.K843*		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	843										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAAGCAAGAAAAGGTCACG	0.388												
C10orf12	26148	broad.mit.edu	37	10	98744692	98744692	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:98744692C>T	uc001kmv.2	+	1	3652	c.3545C>T	c.(3544-3546)ACG>ATG	p.T1182M		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1182										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAACACTGACGAAACCTGCA	0.512												
PI4K2A	55361	broad.mit.edu	37	10	99416705	99416705	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:99416705T>C	uc001kog.1	+	4	953	c.896T>C	c.(895-897)GTG>GCG	p.V299A	PI4K2A_uc010qoy.1_Missense_Mutation_p.V269A|PI4K2A_uc009xvw.1_Missense_Mutation_p.C31R	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	299	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGTTGGTGGTGCTGGATTAC	0.562												
CWF19L1	55280	broad.mit.edu	37	10	102016075	102016075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:102016075C>T	uc001kqq.1	-	5	535	c.448G>A	c.(448-450)GAT>AAT	p.D150N	CWF19L1_uc001kqs.1_Intron|CWF19L1_uc001kqr.1_Missense_Mutation_p.D150N|CWF19L1_uc001kqt.1_Intron|CWF19L1_uc010qpn.1_Missense_Mutation_p.D13N	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	150							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGCAAGATATCAACACCCTTA	0.418												
FAM178A	55719	broad.mit.edu	37	10	102676537	102676537	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:102676537G>A	uc001krt.3	+	3	937	c.395G>A	c.(394-396)CGT>CAT	p.R132H	FAM178A_uc001krr.1_Missense_Mutation_p.R132H|FAM178A_uc001krs.2_Missense_Mutation_p.R132H|FAM178A_uc001kru.1_Missense_Mutation_p.R68H	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	132											0						CATGAGTCACGTCGGCCTTGT	0.408												
BTRC	8945	broad.mit.edu	37	10	103221770	103221770	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103221770C>T	uc001kta.2	+	3	302	c.189C>T	c.(187-189)GGC>GGT	p.G63G	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Silent_p.G27G|BTRC_uc001ktc.2_Intron	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GTAATAATGGCGAACCCCCTA	0.353												
DPCD	25911	broad.mit.edu	37	10	103354447	103354447	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103354447G>A	uc001ktn.2	+	2	102	c.97G>A	c.(97-99)GGC>AGC	p.G33S		NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	33							protein binding			skin(1)	1						ATTCCCAGACGGCAAGGAAAT	0.483												
MGEA5	10724	broad.mit.edu	37	10	103558790	103558790	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103558790G>A	uc001ktv.2	-	9	2061	c.1618C>T	c.(1618-1620)CCA>TCA	p.P540S	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.P487S|MGEA5_uc009xws.2_Missense_Mutation_p.P487S|MGEA5_uc001ktw.2_Missense_Mutation_p.P540S|MGEA5_uc009xwt.2_Missense_Mutation_p.P303S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	540					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTGGACCTGGCACAAACTGC	0.458												
PSD	5662	broad.mit.edu	37	10	104164452	104164452	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104164452C>T	uc001kvg.1	-	15	3115	c.2588G>A	c.(2587-2589)CGC>CAC	p.R863H	PSD_uc001kve.1_Missense_Mutation_p.R71H|PSD_uc001kvf.1_Missense_Mutation_p.R232H|PSD_uc001kvh.1_Missense_Mutation_p.R484H|PSD_uc009xxd.1_Missense_Mutation_p.R863H	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	863	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACATTGATGCGAGTGATCCA	0.612												
TRIM8	81603	broad.mit.edu	37	10	104414974	104414974	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104414974G>A	uc001kvz.2	+	3	927	c.804G>A	c.(802-804)CAG>CAA	p.Q268Q		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	268						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACGCAGCGCAGGCGCTGCACC	0.617												
SFXN2	118980	broad.mit.edu	37	10	104491919	104491919	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104491919C>T	uc001kwb.2	+	8	831	c.665C>T	c.(664-666)GCC>GTC	p.A222V	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	222					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGAGCTGCGGCCATAGGCATC	0.522												
PDCD11	22984	broad.mit.edu	37	10	105172931	105172931	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105172931G>A	uc001kwy.1	+	9	1124	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	346	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGAGCCTGCGCCCCATCTTC	0.567												
CALHM1	255022	broad.mit.edu	37	10	105215352	105215352	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105215352C>T	uc001kxe.2	-	2	848	c.708G>A	c.(706-708)ACG>ACA	p.T236T	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	236						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						TGGCGTGCTCCGTGCACGTCT	0.607												
SLK	9748	broad.mit.edu	37	10	105727517	105727517	+	Missense_Mutation	SNP	A	A	T	rs150455513		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105727517A>T	uc001kxo.1	+	1	48	c.14A>T	c.(13-15)AAT>ATT	p.N5I	SLK_uc001kxp.1_Missense_Mutation_p.N5I	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	5				N -> S (in Ref. 3; BAA13195).	apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCTTCTTCAATTTCCGTAAG	0.408												
C10orf118	55088	broad.mit.edu	37	10	115917415	115917415	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:115917415A>G	uc001lbb.1	-	3	1309	c.657T>C	c.(655-657)CAT>CAC	p.H219H	C10orf118_uc001lbc.1_Silent_p.H219H|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	219	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AGAGCTCCTGATGCTTCTTAT	0.274												
AFAP1L2	84632	broad.mit.edu	37	10	116057097	116057097	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:116057097C>T	uc001lbn.2	-	17	2490	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	AFAP1L2_uc001lbo.2_Missense_Mutation_p.R730H|AFAP1L2_uc010qse.1_Missense_Mutation_p.R783H|AFAP1L2_uc001lbp.2_Missense_Mutation_p.R758H|AFAP1L2_uc001lbm.2_Missense_Mutation_p.R169H|AFAP1L2_uc010qsd.1_Missense_Mutation_p.R296H|AFAP1L2_uc001lbq.1_Missense_Mutation_p.R252H	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	730	Potential.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGTCCACGCGCCTGCTCTC	0.597												
PNLIPRP3	119548	broad.mit.edu	37	10	118196370	118196370	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118196370C>T	uc001lcl.3	+	2	298	c.197C>T	c.(196-198)GCC>GTC	p.A66V		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	66					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		AATCCCAATGCCTATCAGGTA	0.403												
VAX1	11023	broad.mit.edu	37	10	118897523	118897523	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118897523G>A	uc009xyx.2	-	1	290	c.45C>T	c.(43-45)GAC>GAT	p.D15D	VAX1_uc001ldb.1_Silent_p.D15D	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	15						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CAGCCTCGGCGTCCGAGTGGC	0.483												
RAB11FIP2	22841	broad.mit.edu	37	10	119805596	119805596	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:119805596G>A	uc001ldj.1	-	1	519	c.79C>T	c.(79-81)CCA>TCA	p.P27S	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.P27S|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	27	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCCTTTTGGCTTCAGATCT	0.498												
PRLHR	2834	broad.mit.edu	37	10	120354266	120354266	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:120354266A>G	uc001ldp.1	-	2	630	c.491T>C	c.(490-492)GTG>GCG	p.V164A		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	164	Cytoplasmic (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CAGCGGGTGCACCAGCACGAC	0.697												
TACC2	10579	broad.mit.edu	37	10	123847469	123847469	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:123847469T>C	uc001lfv.2	+	4	5814	c.5454T>C	c.(5452-5454)ACT>ACC	p.T1818T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.T1818T|TACC2_uc010qtv.1_Silent_p.T1818T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1818						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCTCCACACTGACAGGTACT	0.502												
IKZF5	64376	broad.mit.edu	37	10	124754231	124754231	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:124754231G>T	uc001lha.2	-	5	624	c.325C>A	c.(325-327)CCT>ACT	p.P109T	IKZF5_uc001lgz.2_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CATCGATGAGGTTTTTCACCT	0.368												
FAM53B	9679	broad.mit.edu	37	10	126370273	126370273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:126370273G>A	uc001lhv.1	-	4	1332	c.809C>T	c.(808-810)CCG>CTG	p.P270L	FAM53B_uc001lhu.1_Missense_Mutation_p.P270L|FAM53B_uc001lhw.2_Missense_Mutation_p.P270L	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	270										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AAGGACACACGGCTGGGAGCG	0.582												
MKI67	4288	broad.mit.edu	37	10	129908709	129908709	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:129908709C>G	uc001lke.2	-	12	2544	c.2349G>C	c.(2347-2349)TTG>TTC	p.L783F	MKI67_uc001lkf.2_Missense_Mutation_p.L423F|MKI67_uc009yav.1_Missense_Mutation_p.L358F|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	783					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)				GTTTTCCAAGCAAATTCTCTG	0.423												
BNIP3	664	broad.mit.edu	37	10	133784266	133784266	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:133784266G>A	uc001lkv.1	-	5	541	c.415C>T	c.(415-417)CGC>TGC	p.R139C	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.R139C	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	139					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGGCCGTGCGCTTCGGGTGT	0.532												
RNH1	6050	broad.mit.edu	37	11	502079	502079	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:502079C>T	uc001lpk.1	-	1	1492	c.84G>A	c.(82-84)CAG>CAA	p.Q28Q	RNH1_uc001lpl.1_Silent_p.Q28Q|RNH1_uc001lpm.1_Silent_p.Q28Q|RNH1_uc001lpn.1_Silent_p.Q28Q|RNH1_uc001lpo.1_Silent_p.Q28Q|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.Q28Q|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Silent_p.Q28Q|RNH1_uc001lpr.1_Silent_p.Q28Q|RNH1_uc001lps.1_Silent_p.Q28Q|RNH1_uc009ybx.1_Silent_p.Q28Q	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	28	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGGCACTGCTGGAGCAGAG	0.642												
PHRF1	57661	broad.mit.edu	37	11	596998	596998	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:596998G>A	uc001lqe.2	+	7	827	c.696G>A	c.(694-696)GCG>GCA	p.A232A	PHRF1_uc010qwc.1_Silent_p.A232A|PHRF1_uc010qwd.1_Silent_p.A231A|PHRF1_uc010qwe.1_Silent_p.A228A|PHRF1_uc009ybz.1_Silent_p.A23A	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	232	PHD-type.						RNA polymerase binding|zinc ion binding				0						AATGTGCTGCGCCTGGTGTTG	0.627												
CDHR5	53841	broad.mit.edu	37	11	621608	621608	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:621608C>T	uc001lqj.2	-	5	566	c.461G>A	c.(460-462)CGC>CAC	p.R154H	CDHR5_uc001lqk.2_Missense_Mutation_p.R154H|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.R154H|CDHR5_uc001lql.2_Missense_Mutation_p.R154H|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.R123H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	154	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GTCCTTGTCGCGGTCCTCAGC	0.637												
PNPLA2	57104	broad.mit.edu	37	11	821634	821634	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:821634C>T	uc001lrt.2	+	3	396	c.194C>T	c.(193-195)GCT>GTT	p.A65V	PNPLA2_uc009ycl.2_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	65	Lumenal (Potential).|Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTGAGGCTGGTGCCAAG	0.587												
MUC5B	727897	broad.mit.edu	37	11	1261421	1261421	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:1261421C>T	uc009ycr.1	+	46	5991	c.5865C>T	c.(5863-5865)ACC>ACT	p.T1955T	MUC5B_uc001ltb.2_Silent_p.T1265T|MUC5B_uc001lta.2_Silent_p.T930T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1262					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCTGCACCTATGAGGACA	0.647												
CARS	833	broad.mit.edu	37	11	3023796	3023796	+	Missense_Mutation	SNP	G	G	A	rs141404196		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:3023796G>A	uc001lxh.2	-	20	2077	c.2003C>T	c.(2002-2004)GCG>GTG	p.A668V	CARS_uc009ydu.2_Intron|CARS_uc001lxe.2_Missense_Mutation_p.A658V|CARS_uc001lxf.2_Missense_Mutation_p.A751V|CARS_uc001lxg.2_Missense_Mutation_p.A668V|CARS_uc010qxo.1_Missense_Mutation_p.A751V|CARS_uc010qxp.1_Missense_Mutation_p.A681V	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	668					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCTCCGGGCCGCCTCCTCTTT	0.572			T	ALK	ALCL							
STIM1	6786	broad.mit.edu	37	11	4080587	4080587	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:4080587C>T	uc001lyv.2	+	5	1142	c.574C>T	c.(574-576)CTG>TTG	p.L192L	STIM1_uc009yef.2_Silent_p.L192L|STIM1_uc009yeg.2_Silent_p.L19L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	192	SAM.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAAGCTGCAGCTGAAGGCTCT	0.532												
RRM1	6240	broad.mit.edu	37	11	4133248	4133248	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:4133248G>A	uc001lyw.3	+	7	925	c.606G>A	c.(604-606)TCG>TCA	p.S202S	RRM1_uc009yeh.1_Silent_p.S105S|RRM1_uc009yei.2_Silent_p.S162S|RRM1_uc010qyc.1_Silent_p.S105S	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	202		Substrate (By similarity).			deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTCATGCTTCGCCCACTCTCT	0.428												
OR51V1	283111	broad.mit.edu	37	11	5221605	5221605	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:5221605T>C	uc010qyz.1	-	1	326	c.326A>G	c.(325-327)CAG>CGG	p.Q109R		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATAGGACTGGGCAATGCA	0.522												
DCHS1	8642	broad.mit.edu	37	11	6655386	6655386	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:6655386G>T	uc001mem.1	-	3	2359	c.1949C>A	c.(1948-1950)CCC>CAC	p.P650H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	650	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCTTGAGGGCCCCTGGTC	0.597												
NLRP10	338322	broad.mit.edu	37	11	7981709	7981709	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:7981709G>T	uc001mfv.1	-	2	1467	c.1450C>A	c.(1450-1452)CAA>AAA	p.Q484K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	484	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCGGCTTTGGTCCTCTTTC	0.507												
NLRP10	338322	broad.mit.edu	37	11	7982707	7982707	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:7982707G>A	uc001mfv.1	-	2	469	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	151							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTCCACCGTGACAGACTC	0.582												
STK33	65975	broad.mit.edu	37	11	8496404	8496404	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:8496404A>G	uc001mgi.1	-	1	968	c.49T>C	c.(49-51)TCA>CCA	p.S17P	STK33_uc001mgj.1_Missense_Mutation_p.S17P|STK33_uc001mgk.1_Missense_Mutation_p.S17P|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	17						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGCAGATGAACAGTCGGGG	0.398												
ZNF143	7702	broad.mit.edu	37	11	9499965	9499965	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:9499965G>A	uc001mhr.2	+	6	520	c.402G>A	c.(400-402)GCG>GCA	p.A134A	ZNF143_uc009yfu.2_Silent_p.A133A|ZNF143_uc010rby.1_Silent_p.A103A	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	134					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATTACAGGCGGTTCAGCTGG	0.433												
AMPD3	272	broad.mit.edu	37	11	10508889	10508889	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:10508889G>T	uc001mio.1	+	6	1252	c.917G>T	c.(916-918)CGG>CTG	p.R306L	AMPD3_uc010rbz.1_Missense_Mutation_p.R147L|AMPD3_uc001min.1_Missense_Mutation_p.R315L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R313L|AMPD3_uc009yfy.2_Missense_Mutation_p.R306L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	306					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AACCCCCACCGGGACTTCTAT	0.532												
GALNTL4	374378	broad.mit.edu	37	11	11643032	11643032	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:11643032C>T	uc001mjo.2	-	1	530	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	37	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TACACGCTGGCGATGTAGTTG	0.572												
PSMA1	5682	broad.mit.edu	37	11	14529273	14529273	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:14529273T>C	uc001mlk.2	-	9	810	c.664A>G	c.(664-666)ACA>GCA	p.T222A	PSMA1_uc001mll.2_Missense_Mutation_p.T228A|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.T197A	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			upper_aerodigestive_tract(1)|skin(1)	2						TCATAGATTGTAAACTCCAAG	0.343												
ABCC8	6833	broad.mit.edu	37	11	17449860	17449860	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17449860G>A	uc001mnc.2	-	14	2142	c.2016C>T	c.(2014-2016)GGC>GGT	p.G672G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	672	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTCAGCATCGCCATCTGCAC	0.652												
SERGEF	26297	broad.mit.edu	37	11	17809839	17809839	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17809839G>T	uc001mnm.2	-	11	1250	c.1170C>A	c.(1168-1170)GGC>GGA	p.G390G	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_3'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	390	RCC1 7.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						CAGCCCCACAGCCCACAAGGA	0.627												
E2F8	79733	broad.mit.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:19256510G>A	uc001mpm.2	-	5	1069	c.547C>T	c.(547-549)CGA>TGA	p.R183*	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Nonsense_Mutation_p.R183*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	183					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AGATTGTGTCGCCCGTGCCAA	0.463												
NAV2	89797	broad.mit.edu	37	11	20066528	20066528	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:20066528G>A	uc010rdm.1	+	15	3644	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	NAV2_uc001mpp.2_Missense_Mutation_p.A1008T|NAV2_uc001mpr.3_Missense_Mutation_p.A1072T|NAV2_uc001mpt.2_Missense_Mutation_p.A158T|NAV2_uc009yhx.2_Missense_Mutation_p.A158T|NAV2_uc009yhy.1_Missense_Mutation_p.A71T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1095						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AACAGACGACGCAAAGGTGTC	0.517												
ANO3	63982	broad.mit.edu	37	11	26529809	26529809	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:26529809G>A	uc001mqt.3	+	5	736	c.591G>A	c.(589-591)GAG>GAA	p.E197E	ANO3_uc010rdr.1_Silent_p.E181E|ANO3_uc010rds.1_Silent_p.E51E|ANO3_uc010rdt.1_Silent_p.E51E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	197	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGAGAAGGAGGTAGGTGCTT	0.294												
KIF18A	81930	broad.mit.edu	37	11	28112174	28112174	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:28112174G>T	uc001msc.2	-	5	871	c.689C>A	c.(688-690)GCT>GAT	p.A230D		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	230	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TTGGAAAACAGCATGAGAACG	0.328												
EXT2	2132	broad.mit.edu	37	11	44129758	44129758	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:44129758C>T	uc001mxz.2	+	2	830	c.496C>T	c.(496-498)CGC>TGC	p.R166C	EXT2_uc010rfo.1_Missense_Mutation_p.R194C|EXT2_uc001mxy.2_Missense_Mutation_p.R179C|EXT2_uc009ykt.2_Missense_Mutation_p.R166C|EXT2_uc001mya.2_Missense_Mutation_p.R199C	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	166	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						GAACACACTGCGCATCAAGGA	0.532			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
CHST1	8534	broad.mit.edu	37	11	45671728	45671728	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:45671728T>C	uc001mys.1	-	4	1417	c.746A>G	c.(745-747)GAC>GGC	p.D249G		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	249	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCGGTACGTGTCGCGGAAGGT	0.647												
AMBRA1	55626	broad.mit.edu	37	11	46419362	46419362	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46419362C>T	uc010rgu.1	-	18	3895	c.3535G>A	c.(3535-3537)GGC>AGC	p.G1179S	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.G1150S|AMBRA1_uc001ncu.1_Missense_Mutation_p.G1089S|AMBRA1_uc001ncv.2_Missense_Mutation_p.G1182S|AMBRA1_uc001ncw.2_Missense_Mutation_p.G1060S|AMBRA1_uc001ncx.2_Missense_Mutation_p.G1119S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1179					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATGTTGTTGCCGAAGCCGCCC	0.657												
KIAA0652	9776	broad.mit.edu	37	11	46690085	46690085	+	Missense_Mutation	SNP	T	T	C	rs141181676		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46690085T>C	uc009yld.2	+	15	1873	c.1189T>C	c.(1189-1191)TTT>CTT	p.F397L	KIAA0652_uc001nda.2_Missense_Mutation_p.F430L|KIAA0652_uc001ndb.2_Missense_Mutation_p.F397L|KIAA0652_uc001ncz.2_Missense_Mutation_p.F360L|KIAA0652_uc001ndc.2_Missense_Mutation_p.F360L|KIAA0652_uc010rgv.1_Missense_Mutation_p.F281L	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	397					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		CTTTGCCATGTTTGCTCCCAA	0.507												
F2	2147	broad.mit.edu	37	11	46744981	46744981	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46744981C>T	uc001ndf.3	+	6	515	c.472C>T	c.(472-474)CGC>TGC	p.R158C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	158	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GAATTTCTGCCGCAACCCCGA	0.592												
PSMC3	5702	broad.mit.edu	37	11	47445735	47445735	+	Splice_Site	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:47445735C>A	uc001nfh.2	-	6	648	c.454_splice	c.e6-1	p.G152_splice	PSMC3_uc009ylr.1_Splice_Site_p.G110_splice	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGTTCACACCCTAAGGACACA	0.572												
OR4C46	119749	broad.mit.edu	37	11	51515297	51515297	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:51515297A>G	uc010ric.1	+	1	16	c.16A>G	c.(16-18)AAC>GAC	p.N6D		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAATAGGAATAACATGACAGA	0.299												
SPRYD5	84767	broad.mit.edu	37	11	55656478	55656478	+	Splice_Site	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55656478G>C	uc010rip.1	+	5	853	c.761_splice	c.e5+1	p.R254_splice	SPRYD5_uc010riq.1_Splice_Site_p.R111_splice	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5							intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TATTACACAGGTGAGTGCACA	0.368												
OR5J2	282775	broad.mit.edu	37	11	55944701	55944701	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55944701C>A	uc010rjb.1	+	1	608	c.608C>A	c.(607-609)TCC>TAC	p.S203Y		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTAACCTTCTCCGGAGTCATT	0.463												
OR5AP2	338675	broad.mit.edu	37	11	56409724	56409724	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:56409724G>T	uc001njb.1	-	1	192	c.192C>A	c.(190-192)CCC>CCA	p.P64P		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AGAAATACATGGGGGTGTGGA	0.438												
APLNR	187	broad.mit.edu	37	11	57004323	57004323	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:57004323G>A	uc001njo.2	-	1	605	c.156C>T	c.(154-156)ACC>ACT	p.T52T	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	52	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity	p.T52N(1)		lung(5)|ovary(1)	6						TCCGAAACACGGTCCAGAGCA	0.612												
MS4A8B	83661	broad.mit.edu	37	11	60468386	60468386	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:60468386C>A	uc001npv.2	+	2	256	c.53C>A	c.(52-54)GCA>GAA	p.A18E	MS4A8B_uc009yne.1_Missense_Mutation_p.A18E	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	18	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TTGGTGGTGGCACCCCACAAT	0.507												
DAGLA	747	broad.mit.edu	37	11	61511425	61511425	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:61511425G>A	uc001nsa.2	+	20	2704	c.2593G>A	c.(2593-2595)GTC>ATC	p.V865I		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	865	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CAGTGGCGGCGTCACTCCTGA	0.731												
INCENP	3619	broad.mit.edu	37	11	61897562	61897562	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:61897562C>A	uc001nsw.1	+	4	765	c.563C>A	c.(562-564)TCC>TAC	p.S188Y	INCENP_uc009ynv.2_Missense_Mutation_p.S188Y|INCENP_uc009ynw.1_Missense_Mutation_p.S188Y|INCENP_uc001nsx.1_Missense_Mutation_p.S188Y	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	188					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						CAGCTCATGTCCACCGAGCCT	0.602												
HNRNPUL2	221092	broad.mit.edu	37	11	62482999	62482999	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:62482999T>C	uc001nuw.2	-	13	2329	c.2136A>G	c.(2134-2136)AGA>AGG	p.R712R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	712	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						TGTAATAGTCTCTGTATCTGT	0.428												
NRXN2	9379	broad.mit.edu	37	11	64419616	64419616	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:64419616G>A	uc001oar.2	-	14	2866	c.2427C>T	c.(2425-2427)CCC>CCT	p.P809P	NRXN2_uc001oas.2_Silent_p.P769P|NRXN2_uc001oaq.2_Silent_p.P476P	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	170	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane		p.P809P(1)		upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ACAGCGTTTCGGGGCCTTTAC	0.572												
SPTBN2	6712	broad.mit.edu	37	11	66457628	66457628	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:66457628C>T	uc001ojd.2	-	27	5764	c.5692G>A	c.(5692-5694)GCC>ACC	p.A1898T	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1898	Spectrin 15.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TGCCGGCGGGCGGCAGAGCTT	0.642												
LRFN4	78999	broad.mit.edu	37	11	66625774	66625774	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:66625774G>A	uc001ojr.2	+	1	899	c.559G>A	c.(559-561)GGC>AGC	p.G187S	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.G187S|LRFN4_uc001ojs.2_Missense_Mutation_p.G187S	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	187	Extracellular (Potential).|LRR 6.					integral to membrane					0						ACTGCCCCCAGGCGCCTTCGC	0.672												
ADRBK1	156	broad.mit.edu	37	11	67048958	67048958	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:67048958C>T	uc009yrn.1	+	9	942	c.676C>T	c.(676-678)CGC>TGC	p.R226C	ADRBK1_uc009yrm.1_Missense_Mutation_p.R226C	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	226	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGACAAAAAGCGCATCAAGAT	0.657												
SUV420H1	51111	broad.mit.edu	37	11	67925991	67925991	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:67925991C>A	uc001onm.1	-	11	2078	c.1822G>T	c.(1822-1824)GGC>TGC	p.G608C	SUV420H1_uc009yse.1_Missense_Mutation_p.G194C|SUV420H1_uc001onn.1_Missense_Mutation_p.G436C|SUV420H1_uc009ysf.2_Missense_Mutation_p.G368C	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TTGGACATGCCTGTGTCACTC	0.483												
IGHMBP2	3508	broad.mit.edu	37	11	68707031	68707031	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:68707031C>A	uc001ook.1	+	15	2916	c.2814C>A	c.(2812-2814)GCC>GCA	p.A938A	IGHMBP2_uc001ool.1_Silent_p.A562A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	938	AN1-type.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGCTCGCGCCCATGCCCGGC	0.642												
PPFIA1	8500	broad.mit.edu	37	11	70194330	70194330	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:70194330G>A	uc001opo.2	+	16	2165	c.1967G>A	c.(1966-1968)CGG>CAG	p.R656Q	PPFIA1_uc001opn.1_Missense_Mutation_p.R656Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	656	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACAGAGCAGCGGGCAGAGGAG	0.438												
NADSYN1	55191	broad.mit.edu	37	11	71201915	71201915	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:71201915C>T	uc001oqn.2	+	17	1713	c.1587C>T	c.(1585-1587)TAC>TAT	p.Y529Y	NADSYN1_uc001oqo.2_Silent_p.Y269Y|NADSYN1_uc001oqp.2_Silent_p.Y158Y	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	529	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACCAAGTACGACTGCTCCA	0.632												
WNT11	7481	broad.mit.edu	37	11	75898133	75898133	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:75898133G>A	uc001oxe.2	-	5	1164	c.1041C>T	c.(1039-1041)ACC>ACT	p.T347T		NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	347					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						AGCGCTCCACGGTACGCTCAC	0.662												
DLG2	1740	broad.mit.edu	37	11	83641443	83641443	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641443T>A	uc001paj.2	-	10	1412	c.1109A>T	c.(1108-1110)GAC>GTC	p.D370V	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.D337V|DLG2_uc010rsz.1_Missense_Mutation_p.D370V|DLG2_uc010rta.1_Missense_Mutation_p.D370V|DLG2_uc001pak.2_Missense_Mutation_p.D475V|DLG2_uc010rtb.1_Missense_Mutation_p.D337V|DLG2_uc001pal.1_Missense_Mutation_p.D370V|DLG2_uc001pam.1_Missense_Mutation_p.D409V	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	370						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAAGCTTTTGTCACACTCAAC	0.512												
DLG2	1740	broad.mit.edu	37	11	83641447	83641447	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641447A>T	uc001paj.2	-	10	1408	c.1105T>A	c.(1105-1107)TGT>AGT	p.C369S	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.C336S|DLG2_uc010rsz.1_Missense_Mutation_p.C369S|DLG2_uc010rta.1_Missense_Mutation_p.C369S|DLG2_uc001pak.2_Missense_Mutation_p.C474S|DLG2_uc010rtb.1_Missense_Mutation_p.C336S|DLG2_uc001pal.1_Missense_Mutation_p.C369S|DLG2_uc001pam.1_Missense_Mutation_p.C408S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	369						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTTTGTCACACTCAACAGGG	0.517												
DLG2	1740	broad.mit.edu	37	11	83641517	83641517	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641517T>C	uc001paj.2	-	10	1338	c.1035A>G	c.(1033-1035)GAA>GAG	p.E345E	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Silent_p.E312E|DLG2_uc010rsz.1_Silent_p.E345E|DLG2_uc010rta.1_Silent_p.E345E|DLG2_uc001pak.2_Silent_p.E450E|DLG2_uc010rtb.1_Silent_p.E312E|DLG2_uc001pal.1_Silent_p.E345E|DLG2_uc001pam.1_Silent_p.E384E	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	345						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAAACAGGTTCCGGAGGCC	0.473												
ME3	10873	broad.mit.edu	37	11	86267648	86267648	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:86267648C>T	uc001pbz.2	-	3	668	c.414G>A	c.(412-414)ACG>ACA	p.T138T	ME3_uc001pca.2_Silent_p.T138T|ME3_uc009yvk.2_Silent_p.T138T|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	138					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCACGGTAGGCGTGTACACGA	0.592												
GRM5	2915	broad.mit.edu	37	11	88386447	88386447	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:88386447G>A	uc001pcq.2	-	3	1236	c.1036C>T	c.(1036-1038)CCA>TCA	p.P346S	GRM5_uc009yvm.2_Missense_Mutation_p.P346S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	346	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTTGTTTCTGGCCGGAGCTTC	0.458												
NAALAD2	10003	broad.mit.edu	37	11	89892496	89892496	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:89892496A>G	uc001pdf.3	+	8	1089	c.980A>G	c.(979-981)GAT>GGT	p.D327G	NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	327	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAGGGAGTGATTCTTTCAGG	0.373												
FAT3	120114	broad.mit.edu	37	11	92538325	92538325	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:92538325A>G	uc001pdj.3	+	10	8920	c.8903A>G	c.(8902-8904)AAC>AGC	p.N2968S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2968	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGGAGGAAACCCTCGAGGA	0.438										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92539641	92539641	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:92539641T>C	uc001pdj.3	+	11	9224	c.9207T>C	c.(9205-9207)TAT>TAC	p.Y3069Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3069	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCACTCTATGGATCTGGAA	0.323										TCGA Ovarian(4;0.039)		
PIWIL4	143689	broad.mit.edu	37	11	94353244	94353244	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:94353244C>T	uc001pfa.2	+	19	2587	c.2376C>T	c.(2374-2376)AAC>AAT	p.N792N	PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	792	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGATGACAACGGCTTGAAGC	0.443												
PGR	5241	broad.mit.edu	37	11	100998808	100998808	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:100998808C>T	uc001pgh.2	-	1	1737	c.994G>A	c.(994-996)GGG>AGG	p.G332R	PGR_uc001pgi.2_Missense_Mutation_p.G332R|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	332	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GCCCCGGCCCCGCCGTCGTAA	0.662												
MMP27	64066	broad.mit.edu	37	11	102562575	102562575	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102562575C>A	uc001phd.1	-	10	1487	c.1464G>T	c.(1462-1464)AAG>AAT	p.K488N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GATACAATATCTTTATGCCTC	0.299												
MMP12	4321	broad.mit.edu	37	11	102738724	102738724	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102738724G>A	uc001phk.2	-	6	747	c.702C>T	c.(700-702)GCC>GCT	p.A234A		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	234					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GGAACATTACGGCCTTTGGAT	0.453												
DRD2	1813	broad.mit.edu	37	11	113287617	113287617	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:113287617G>A	uc001pnz.2	-	3	821	c.500C>T	c.(499-501)TCC>TTC	p.S167F	DRD2_uc010rwv.1_Missense_Mutation_p.S166F|DRD2_uc001poa.3_Missense_Mutation_p.S167F|DRD2_uc001pob.3_Missense_Mutation_p.S167F|DRD2_uc009yyr.1_Missense_Mutation_p.S167F	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	167	Helical; Name=4; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAGTGGGCAGGAGATGGTGAA	0.592												
APOA1	335	broad.mit.edu	37	11	116706810	116706810	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:116706810C>T	uc001ppu.1	-	4	597	c.518G>A	c.(517-519)CGC>CAC	p.R173H	APOA1_uc001ppv.1_Missense_Mutation_p.R173H	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	173	6.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGCGCGGTCGCGCATCTCCTC	0.711												
DSCAML1	57453	broad.mit.edu	37	11	117389401	117389401	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:117389401C>T	uc001prh.1	-	7	1472	c.1470G>A	c.(1468-1470)GCG>GCA	p.A490A	DSCAML1_uc001pri.1_Silent_p.A294A	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	430	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCCCTTGGCCGCACACATCA	0.672												
AMICA1	120425	broad.mit.edu	37	11	118074193	118074193	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118074193A>T	uc001psk.2	-	6	896	c.722T>A	c.(721-723)CTG>CAG	p.L241Q	AMICA1_uc001psg.2_Missense_Mutation_p.L51Q|AMICA1_uc001psh.2_Missense_Mutation_p.L202Q|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L231Q|AMICA1_uc001psj.2_Missense_Mutation_p.L230Q|AMICA1_uc010rxw.1_Missense_Mutation_p.L202Q|AMICA1_uc010rxx.1_Missense_Mutation_p.L241Q|AMICA1_uc001psl.1_Missense_Mutation_p.L197Q	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	241	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTTGAACACCAGGTTCCCTAG	0.527												
AMICA1	120425	broad.mit.edu	37	11	118074310	118074310	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118074310A>T	uc001psk.2	-	6	779	c.605T>A	c.(604-606)TTC>TAC	p.F202Y	AMICA1_uc001psg.2_Missense_Mutation_p.F12Y|AMICA1_uc001psh.2_Missense_Mutation_p.F163Y|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.F192Y|AMICA1_uc001psj.2_Missense_Mutation_p.F191Y|AMICA1_uc010rxw.1_Missense_Mutation_p.F163Y|AMICA1_uc010rxx.1_Missense_Mutation_p.F202Y|AMICA1_uc001psl.1_Missense_Mutation_p.F158Y	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	202	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACGATTCTGGAAGTGGCCCCA	0.473												
CD3E	916	broad.mit.edu	37	11	118184512	118184512	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118184512T>C	uc001psq.3	+	7	699	c.443T>C	c.(442-444)GTT>GCT	p.V148A		NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	148	Helical; (Potential).				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CTGCTGCTGGTTTACTACTGG	0.567												
MLL	4297	broad.mit.edu	37	11	118354898	118354898	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118354898G>A	uc001pta.2	+	9	4110	c.4087G>A	c.(4087-4089)GAA>AAA	p.E1363K	MLL_uc001ptb.2_Missense_Mutation_p.E1363K|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.E64K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1363		Breakpoint for translocation to form MLL- AF3P21 and MLL-CASC5 oncogenes.|Breakpoint for translocation to form MLL- CENPK oncogene.			apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCTCCTTAGGAAAAACCACC	0.368			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
BCL9L	283149	broad.mit.edu	37	11	118771337	118771337	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118771337T>G	uc001pug.2	-	6	4080	c.3115A>C	c.(3115-3117)ATG>CTG	p.M1039L	BCL9L_uc009zal.2_Missense_Mutation_p.M1034L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1039	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCCTGTTCCATGTTGCTCAGG	0.512												
OR8D4	338662	broad.mit.edu	37	11	123777411	123777411	+	Silent	SNP	C	C	T	rs150083489		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:123777411C>T	uc010saa.1	+	1	273	c.273C>T	c.(271-273)TCC>TCT	p.S91S		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GAGATAGATCCATCTCCTATT	0.403												
STT3A	3703	broad.mit.edu	37	11	125478022	125478022	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:125478022C>T	uc001qcd.2	+	9	909	c.799C>T	c.(799-801)CAC>TAC	p.H267Y	STT3A_uc009zbm.2_Missense_Mutation_p.H267Y|STT3A_uc001qce.2_Missense_Mutation_p.H267Y|STT3A_uc010sbg.1_Missense_Mutation_p.H175Y|STT3A_uc009zbn.2_Missense_Mutation_p.H41Y	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	267	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCATCAGAGCACATGGCAGC	0.428												
PUS3	83480	broad.mit.edu	37	11	125765842	125765842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:125765842C>T	uc001qcy.2	-	2	436	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	113						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TCTCCCACATCGGTGATAGTT	0.408												
PRDM10	56980	broad.mit.edu	37	11	129784663	129784663	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:129784663G>A	uc001qfm.2	-	18	3021	c.2789C>T	c.(2788-2790)TCG>TTG	p.S930L	PRDM10_uc001qfj.2_Missense_Mutation_p.S844L|PRDM10_uc001qfk.2_Missense_Mutation_p.S840L|PRDM10_uc001qfl.2_Missense_Mutation_p.S844L|PRDM10_uc010sbx.1_Missense_Mutation_p.S840L|PRDM10_uc001qfn.2_Missense_Mutation_p.S926L|PRDM10_uc009zcs.1_Missense_Mutation_p.S113L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	930	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGCCGACTGCGACACAGGGAT	0.542												
APLP2	334	broad.mit.edu	37	11	129993525	129993525	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:129993525C>T	uc010sby.1	+	7	1098	c.941C>T	c.(940-942)GCG>GTG	p.A314V	APLP2_uc001qfp.2_Missense_Mutation_p.A314V|APLP2_uc001qfq.2_Intron|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	314	BPTI/Kunitz inhibitor.|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCCCAGGAGGCGATGACGGGG	0.587												
SNX19	399979	broad.mit.edu	37	11	130784286	130784286	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:130784286T>C	uc001qgk.3	-	1	2097	c.1549A>G	c.(1549-1551)AGC>GGC	p.S517G	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.S517G|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	517					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCTCAAAGCTGAAGGTGGCT	0.537												
NCAPD3	23310	broad.mit.edu	37	11	134050984	134050984	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134050984G>A	uc001qhd.1	-	20	3153	c.2547C>T	c.(2545-2547)GAC>GAT	p.D849D	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	849					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACAGGTCTTCGTCCATATTCC	0.468												
NCAPD3	23310	broad.mit.edu	37	11	134079287	134079287	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134079287G>A	uc001qhd.1	-	5	1258	c.652C>T	c.(652-654)CAC>TAC	p.H218Y	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	218					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTAAAAGGTGAAAGATGGCA	0.333												
THYN1	29087	broad.mit.edu	37	11	134118831	134118831	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134118831A>G	uc001qhf.2	-	7	605	c.503T>C	c.(502-504)ATG>ACG	p.M168T	THYN1_uc001qhg.2_Missense_Mutation_p.M168T|THYN1_uc001qhh.2_Missense_Mutation_p.M168T|THYN1_uc001qhi.2_Intron|THYN1_uc001qhj.2_Intron	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	168						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ACGTTTCATCATCCGAACAAA	0.463												
EFCAB4B	84766	broad.mit.edu	37	12	3757704	3757704	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:3757704G>A	uc001qmj.2	-	11	1694	c.1122C>T	c.(1120-1122)TGC>TGT	p.C374C	EFCAB4B_uc010sen.1_Intron|EFCAB4B_uc010seo.1_Intron|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	374					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACCGACGCACCTTAGGA	0.597												
PLEKHG6	55200	broad.mit.edu	37	12	6424299	6424299	+	Silent	SNP	C	C	T	rs143574959		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6424299C>T	uc001qnr.2	+	4	571	c.423C>T	c.(421-423)ATC>ATT	p.I141I	PLEKHG6_uc001qns.2_Silent_p.I141I|PLEKHG6_uc010sew.1_Silent_p.I141I|PLEKHG6_uc010sex.1_Silent_p.I109I	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	141					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I141I(1)		large_intestine(1)|skin(1)	2						GCCTGACCATCGAGAAGTCCT	0.612												
CD4	920	broad.mit.edu	37	12	6926429	6926429	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6926429T>C	uc001qqv.1	+	7	1334	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	CD4_uc010sfj.1_Silent_p.P90P|CD4_uc009zfc.1_Silent_p.P184P|CD4_uc010sfk.1_Silent_p.P90P|CD4_uc010sfl.1_Silent_p.P90P|CD4_uc010sfm.1_Silent_p.P90P	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	363	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TGCTGAACCCTGAGGCGGGGA	0.587												
CD163	9332	broad.mit.edu	37	12	7651478	7651478	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:7651478C>A	uc001qsz.3	-	4	892	c.764G>T	c.(763-765)GGA>GTA	p.G255V	CD163_uc001qta.3_Missense_Mutation_p.G255V|CD163_uc009zfw.2_Missense_Mutation_p.G255V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	255	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCAAATCACTCCAGCATCCTC	0.418												
A2ML1	144568	broad.mit.edu	37	12	9020604	9020604	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:9020604C>A	uc001quz.3	+	30	3982	c.3884C>A	c.(3883-3885)CCT>CAT	p.P1295H	A2ML1_uc001qva.1_Missense_Mutation_p.P875H|A2ML1_uc010sgm.1_Missense_Mutation_p.P795H|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1139						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CCCAATGTCCCTGGAATGTAC	0.483												
GABARAPL1	23710	broad.mit.edu	37	12	10373153	10373153	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:10373153A>G	uc001qxs.2	+	3	524	c.284A>G	c.(283-285)TAT>TGT	p.Y95C	GABARAPL1_uc010shb.1_Missense_Mutation_p.Y95C|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	95						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						GGCCAACTGTATGAGGTAATG	0.488												
KLRC1	3821	broad.mit.edu	37	12	10601870	10601870	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:10601870G>T	uc001qyl.2	-	5	619	c.455C>A	c.(454-456)TCC>TAC	p.S152Y	KLRC1_uc009zhm.1_Missense_Mutation_p.S152Y|KLRC1_uc001qym.2_Missense_Mutation_p.S134Y|KLRC1_uc001qyn.2_Missense_Mutation_p.S152Y|KLRC1_uc001qyo.2_Missense_Mutation_p.S134Y	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	152	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AAGCAGACTGGAGTTCTTCGA	0.303												
TAS2R43	259289	broad.mit.edu	37	12	11244407	11244407	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:11244407G>A	uc001qzq.1	-	1	506	c.422C>T	c.(421-423)GCT>GTT	p.A141V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	141	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGATGACAAGCCAAAAATAG	0.358												
ATF7IP	55729	broad.mit.edu	37	12	14650878	14650878	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:14650878T>C	uc001rbw.2	+	15	3842	c.3684T>C	c.(3682-3684)TGT>TGC	p.C1228C	ATF7IP_uc001rbx.2_Silent_p.C1227C|ATF7IP_uc001rby.3_Silent_p.C1228C|ATF7IP_uc001rca.2_Silent_p.C1228C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1228	Interaction with MBD1.|Fibronectin type-III.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CCATGGCATGTACTCTCACCC	0.478												
KIAA0528	9847	broad.mit.edu	37	12	22631335	22631335	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:22631335C>T	uc001rfq.2	-	15	2042	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	KIAA0528_uc010sir.1_Missense_Mutation_p.G420D|KIAA0528_uc010sis.1_Missense_Mutation_p.G605D|KIAA0528_uc010sit.1_Missense_Mutation_p.G607D|KIAA0528_uc010siu.1_Missense_Mutation_p.G605D|KIAA0528_uc001rfr.2_Missense_Mutation_p.G596D|KIAA0528_uc009ziy.1_Missense_Mutation_p.G607D	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	605							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTCATATGAGCCATCATTAGG	0.363												
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:25232195C>T	uc001rgh.2	+	6	1076	c.42C>T	c.(40-42)CGC>CGT	p.R14R	LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Silent_p.R14R|LRMP_uc010sjb.1_5'UTR|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.R14R|LRMP_uc010sjd.1_5'UTR	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373												
PPFIBP1	8496	broad.mit.edu	37	12	27820253	27820253	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:27820253G>T	uc001ric.1	+	13	1574	c.1197G>T	c.(1195-1197)GAG>GAT	p.E399D	PPFIBP1_uc010sjr.1_Missense_Mutation_p.E230D|PPFIBP1_uc001rib.1_Missense_Mutation_p.E382D|PPFIBP1_uc001ria.2_Missense_Mutation_p.E368D|PPFIBP1_uc001rid.1_Missense_Mutation_p.E246D	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	399	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCCCGAAGAGGTATTAATAG	0.403												
KIF21A	55605	broad.mit.edu	37	12	39763645	39763645	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:39763645A>G	uc001rly.2	-	3	482	c.336T>C	c.(334-336)GGT>GGC	p.G112G	KIF21A_uc001rlx.2_Silent_p.G112G|KIF21A_uc001rlz.2_Silent_p.G112G|KIF21A_uc010skl.1_Silent_p.G112G|KIF21A_uc001rma.1_Silent_p.G112G	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GAGAAATAATACCCAGTTCTT	0.343												
CNTN1	1272	broad.mit.edu	37	12	41408095	41408095	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:41408095T>C	uc001rmm.1	+	18	2292	c.2179T>C	c.(2179-2181)TGG>CGG	p.W727R	CNTN1_uc001rmn.1_Missense_Mutation_p.W716R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	727	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GACCATAACATGGGCGGTAAG	0.378												
PDZRN4	29951	broad.mit.edu	37	12	41967474	41967474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:41967474C>T	uc010skn.1	+	10	2364	c.2296C>T	c.(2296-2298)CGA>TGA	p.R766*	PDZRN4_uc001rmq.3_Nonsense_Mutation_p.R707*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.R705*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.R592*	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	965							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTTCATGATGCGAAGCAGGTT	0.507												
PPHLN1	51535	broad.mit.edu	37	12	42835202	42835202	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:42835202T>A	uc001rng.1	+	10	1100	c.995T>A	c.(994-996)TTT>TAT	p.F332Y	PPHLN1_uc001rmy.2_Missense_Mutation_p.F350Y|PPHLN1_uc001rne.2_Missense_Mutation_p.F320Y|PPHLN1_uc001rnb.2_Missense_Mutation_p.F339Y|PPHLN1_uc001rnd.2_Missense_Mutation_p.F284Y|PPHLN1_uc001rnc.2_Missense_Mutation_p.F332Y|PPHLN1_uc001rnf.2_Missense_Mutation_p.F313Y|PPHLN1_uc010skq.1_Missense_Mutation_p.F258Y|PPHLN1_uc010skr.1_Missense_Mutation_p.F277Y|PPHLN1_uc010sks.1_Missense_Mutation_p.F258Y|PPHLN1_uc010skt.1_Missense_Mutation_p.F212Y|PPHLN1_uc001rni.1_Missense_Mutation_p.F277Y|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.F265Y	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	332					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TCTATACAGTTTGCATTGAGG	0.378												
ANO6	196527	broad.mit.edu	37	12	45784262	45784262	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:45784262C>T	uc001roo.2	+	12	1702	c.1367C>T	c.(1366-1368)GCC>GTC	p.A456V	ANO6_uc010sld.1_Missense_Mutation_p.A456V|ANO6_uc010sle.1_Missense_Mutation_p.A456V|ANO6_uc010slf.1_Missense_Mutation_p.A477V|ANO6_uc010slg.1_Missense_Mutation_p.A438V	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	456	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACCCTCTGTGCCAGTGCTGTC	0.299												
C12orf41	54934	broad.mit.edu	37	12	49048764	49048764	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49048764T>C	uc001rrx.2	-	9	1382	c.1307A>G	c.(1306-1308)CAT>CGT	p.H436R	C12orf41_uc001rrw.2_Missense_Mutation_p.H207R|C12orf41_uc001rrz.2_Missense_Mutation_p.H619R|C12orf41_uc001rry.2_RNA|C12orf41_uc001rru.2_Missense_Mutation_p.H67R|C12orf41_uc001rrv.2_Missense_Mutation_p.H120R|SNORA34_uc001rsa.1_5'Flank|MIR1291_hsa-mir-1291|MI0006353_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	436										ovary(2)	2						TTTGACTAAATGATCTTCAAG	0.453												
ADCY6	112	broad.mit.edu	37	12	49169835	49169835	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49169835G>A	uc001rsh.3	-	8	2377	c.1717C>T	c.(1717-1719)CGG>TGG	p.R573W	ADCY6_uc001rsj.3_Missense_Mutation_p.R573W|ADCY6_uc001rsi.3_Missense_Mutation_p.R573W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	573	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						GAGTTGGCCCGAGTCCGCTGC	0.652												
DDX23	9416	broad.mit.edu	37	12	49230468	49230468	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49230468G>A	uc001rsm.2	-	10	1211	c.1120C>T	c.(1120-1122)CGT>TGT	p.R374C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	374						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R374C(1)		kidney(3)|ovary(1)|lung(1)|skin(1)	6						TAGTCCTCACGGAAGATCCGC	0.522												
MLL2	8085	broad.mit.edu	37	12	49425937	49425937	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49425937C>T	uc001rta.3	-	39	12551	c.12551G>A	c.(12550-12552)GGT>GAT	p.G4184D		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4184	Gln-rich.				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						CCCAGGCAGACCCTGCCCAGA	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49435088	49435088	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49435088C>T	uc001rta.3	-	31	6465	c.6465G>A	c.(6463-6465)TCG>TCA	p.S2155S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2155	Pro-rich.				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						GCTCACCAGGCGAGTCAGGGC	0.682			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
DIP2B	57609	broad.mit.edu	37	12	51112539	51112539	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:51112539C>T	uc001rwv.2	+	24	3055	c.2899C>T	c.(2899-2901)CGT>TGT	p.R967C	DIP2B_uc009zlt.2_Missense_Mutation_p.R397C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	967						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGCTGGAAAACGTATAGCACA	0.448												
KRT18	3875	broad.mit.edu	37	12	53344642	53344642	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53344642C>T	uc001sbe.2	+	4	678	c.609C>T	c.(607-609)ATC>ATT	p.I203I	KRT18_uc009zmn.1_Silent_p.I203I|KRT18_uc001sbf.1_Silent_p.I30I|KRT18_uc001sbg.2_Silent_p.I203I|KRT18_uc009zmo.2_Silent_p.I203I|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Rod.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						AGACAGAGATCGAGGCTCTCA	0.572												
ESPL1	9700	broad.mit.edu	37	12	53679780	53679780	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53679780A>G	uc001sck.2	+	18	3351	c.3260A>G	c.(3259-3261)CAG>CGG	p.Q1087R	ESPL1_uc001scj.2_Missense_Mutation_p.Q762R|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1087					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CAGCAGGCCCAGGTCCCCTGT	0.597												
ESPL1	9700	broad.mit.edu	37	12	53686642	53686642	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53686642C>T	uc001sck.2	+	30	6140	c.6049C>T	c.(6049-6051)CGG>TGG	p.R2017W	ESPL1_uc001scj.2_Missense_Mutation_p.R1692W|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	2017					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGCTGTCCTGCGGCTGAGCTG	0.612												
ERBB3	2065	broad.mit.edu	37	12	56482369	56482369	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:56482369C>A	uc001sjh.2	+	8	1110	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P247H|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	306	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGGCCTGTCCTCCTGACAAG	0.478												
GLS2	27165	broad.mit.edu	37	12	56868375	56868375	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:56868375T>C	uc001slj.2	-	12	1456	c.1177A>G	c.(1177-1179)ATG>GTG	p.M393V	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.M128V|GLS2_uc009zot.2_Missense_Mutation_p.M54V	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	393					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGAATGCATGAGGCTGAGG	0.567												
ATP5B	506	broad.mit.edu	37	12	57036610	57036610	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57036610C>T	uc001slr.2	-	6	903	c.798G>A	c.(796-798)GCG>GCA	p.A266A		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	266					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CATATACCAGCGCTACCTGCA	0.478												
TAC3	6866	broad.mit.edu	37	12	57406624	57406624	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57406624T>C	uc001smp.2	-	5	434	c.274A>G	c.(274-276)AAG>GAG	p.K92E	TAC3_uc001smr.2_RNA|TAC3_uc001smq.2_RNA|TAC3_uc001smt.2_RNA|TAC3_uc001sms.2_RNA|TAC3_uc010sqy.1_RNA|TAC3_uc001smu.2_Intron|TAC3_uc001smv.2_Intron|TAC3_uc001smo.2_Intron	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	tachykinin 3 precursor	92					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			ovary(1)|skin(1)	2						ACGCTCCTCTTGCCCATAAGT	0.512												
MYO1A	4640	broad.mit.edu	37	12	57432281	57432281	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57432281G>A	uc001smw.3	-	17	1918	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	MYO1A_uc010sqz.1_Missense_Mutation_p.R397C|MYO1A_uc009zpd.2_Missense_Mutation_p.R559C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	559	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						GTCGGGGGGCGTTTGAGAGAT	0.562												
GLI1	2735	broad.mit.edu	37	12	57861144	57861144	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57861144G>A	uc001snx.2	+	9	1019	c.941G>A	c.(940-942)CGC>CAC	p.R314H	GLI1_uc009zpq.2_Missense_Mutation_p.R186H	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	314	C2H2-type 3.				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TCATACTCACGCCTCGAAAAC	0.542												
GEFT	115557	broad.mit.edu	37	12	58006732	58006732	+	Silent	SNP	C	C	A	rs147842061		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:58006732C>A	uc001spb.2	+	2	577	c.117C>A	c.(115-117)GGC>GGA	p.G39G	GEFT_uc009zpy.2_Silent_p.G78G|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	39					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CCATTGCGGGCAGTGAGGGGA	0.498												
GNS	2799	broad.mit.edu	37	12	65113930	65113930	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:65113930G>A	uc001ssg.3	-	13	1622	c.1452C>T	c.(1450-1452)GAC>GAT	p.D484D	GNS_uc001ssf.2_Silent_p.D428D|GNS_uc010ssq.1_Silent_p.D516D|GNS_uc010ssr.1_Silent_p.D464D	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	484						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TCTGGTCTGGGTCTGCAGTCA	0.413												
MDM1	56890	broad.mit.edu	37	12	68709980	68709980	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:68709980C>T	uc001stz.2	-	8	1195	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T	MDM1_uc010stc.1_Silent_p.T318T|MDM1_uc009zqv.1_Silent_p.T73T	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	353						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGAAAAATGCGTCCCCTGAA	0.418												
KCNC2	3747	broad.mit.edu	37	12	75601374	75601374	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:75601374G>A	uc001sxg.1	-	2	934	c.390C>T	c.(388-390)TGC>TGT	p.C130C	KCNC2_uc009zry.2_Silent_p.C130C|KCNC2_uc001sxe.2_Silent_p.C130C|KCNC2_uc001sxf.2_Silent_p.C130C|KCNC2_uc010stw.1_Silent_p.C130C	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	130	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						AGAGCGGCCCGCACACGTCTG	0.677												
CSRP2	1466	broad.mit.edu	37	12	77254062	77254062	+	Splice_Site	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:77254062A>G	uc001syl.1	-	4	494	c.411_splice	c.e4+1	p.K137_splice		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2						multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						ATAGCACTTTACCTTTCCAGC	0.418												
NAV3	89795	broad.mit.edu	37	12	78553055	78553055	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:78553055G>T	uc001syp.2	+	23	5031	c.4858G>T	c.(4858-4860)GCG>TCG	p.A1620S	NAV3_uc001syo.2_Missense_Mutation_p.A1620S|NAV3_uc010sub.1_Missense_Mutation_p.A1106S|NAV3_uc009zsf.2_Missense_Mutation_p.A451S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1620	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AACTATGACAGCGGAACAAAA	0.383										HNSCC(70;0.22)		
LRRIQ1	84125	broad.mit.edu	37	12	85518280	85518280	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:85518280T>C	uc001tac.2	+	17	4101	c.3990T>C	c.(3988-3990)ATT>ATC	p.I1330I	LRRIQ1_uc001tab.1_Silent_p.I1330I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1330										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ACCAAAATATTGAGCCTAGTG	0.323												
EPYC	1833	broad.mit.edu	37	12	91371989	91371989	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:91371989T>C	uc001tbk.2	-	3	309	c.216A>G	c.(214-216)CCA>CCG	p.P72P		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	72					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						GCTGTGGGGGTGGAGTGAGGA	0.498											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GOLGA2B	55592	broad.mit.edu	37	12	100551322	100551322	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:100551322G>A	uc001tgs.2	-	4	718	c.274C>T	c.(274-276)CCA>TCA	p.P92S	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.P92S|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						CTTCTCCATGGCCCCCTGCAG	0.617												
C12orf45	121053	broad.mit.edu	37	12	105388388	105388388	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:105388388A>G	uc001tlb.2	+	4	505	c.472A>G	c.(472-474)ATA>GTA	p.I158V		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	158											0						TGAAGTCACCATAGATAACAT	0.274												
NUAK1	9891	broad.mit.edu	37	12	106460846	106460846	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:106460846C>T	uc001tlj.1	-	7	3100	c.1720G>A	c.(1720-1722)GAT>AAT	p.D574N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	574							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						ACGCTGTCATCGCTGATGACA	0.607												
ASCL4	121549	broad.mit.edu	37	12	108169061	108169061	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:108169061C>T	uc001tmr.2	+	1	900	c.69C>T	c.(67-69)GGC>GGT	p.G23G		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	22					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCCCCTGGGCGTTCCGGGGA	0.697												
ACAD10	80724	broad.mit.edu	37	12	112167624	112167624	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112167624C>T	uc001tsq.2	+	10	1458	c.1258C>T	c.(1258-1260)CGC>TGC	p.R420C	ACAD10_uc001tsp.2_Missense_Mutation_p.R420C|ACAD10_uc009zvx.2_Missense_Mutation_p.R451C|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	420							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTATATTCCACGCCAGGTACG	0.473												
RPL6	6128	broad.mit.edu	37	12	112846235	112846235	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112846235C>T	uc001ttu.2	-	2	455	c.226G>A	c.(226-228)GCT>ACT	p.A76T	RPL6_uc001ttv.2_Missense_Mutation_p.A76T|RPL6_uc009zwd.1_Missense_Mutation_p.A76T	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	76					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1						TTGGATTTAGCGGCTGAGTAC	0.463												
OAS3	4940	broad.mit.edu	37	12	113386827	113386827	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:113386827C>T	uc001tug.2	+	6	1278	c.1191C>T	c.(1189-1191)ATC>ATT	p.I397I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	397	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						CAGCCAGCATCGTCCCCTCTG	0.622												
MED13L	23389	broad.mit.edu	37	12	116446528	116446528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:116446528G>A	uc001tvw.2	-	10	1745	c.1690C>T	c.(1690-1692)CGA>TGA	p.R564*		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	564					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCTGACCTCGTGGCTGAGGG	0.498												
ANAPC5	51433	broad.mit.edu	37	12	121756174	121756174	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:121756174G>A	uc001uag.2	-	15	1921	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	ANAPC5_uc010szu.1_Missense_Mutation_p.A266V|ANAPC5_uc001uae.2_Missense_Mutation_p.A164V|ANAPC5_uc010szv.1_Missense_Mutation_p.A202V|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.A488V|ANAPC5_uc001uai.1_Intron	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	600	TPR 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATGGGCAGCGCGATGGTAGG	0.552												
ORAI1	84876	broad.mit.edu	37	12	122078974	122078974	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:122078974G>A	uc010szz.1	+	3	524	c.331G>A	c.(331-333)GCT>ACT	p.A111T		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	111	Extracellular (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCAGCTGGACGCTGACCACGA	0.577												
ABCB9	23457	broad.mit.edu	37	12	123419951	123419951	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:123419951G>A	uc001udm.3	-	10	2081	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	ABCB9_uc010tai.1_Silent_p.L198L|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.L548L|ABCB9_uc010taj.1_Silent_p.L528L|ABCB9_uc001udp.2_Silent_p.L591L|ABCB9_uc001udq.2_Silent_p.L310L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	591	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGGGCGAACAGCACGGGCTCC	0.622												
DNAH10	196385	broad.mit.edu	37	12	124359903	124359903	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:124359903A>G	uc001uft.3	+	46	7735	c.7710A>G	c.(7708-7710)GCA>GCG	p.A2570A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2570	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTATTGCTGCAATGGGAAAGG	0.463												
NCOR2	9612	broad.mit.edu	37	12	124915272	124915272	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:124915272C>T	uc010tba.1	-	9	1061	c.944G>A	c.(943-945)CGC>CAC	p.R315H	NCOR2_uc010tay.1_Missense_Mutation_p.R315H|NCOR2_uc010taz.1_Missense_Mutation_p.R315H|NCOR2_uc010tbb.1_Missense_Mutation_p.R315H|NCOR2_uc010tbc.1_Missense_Mutation_p.R315H|NCOR2_uc001ugj.1_Missense_Mutation_p.R315H|NCOR2_uc001ugk.1_Missense_Mutation_p.R315H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	315					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTCTCGATGCGCTCCACCTT	0.637												
ULK1	8408	broad.mit.edu	37	12	132393481	132393481	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132393481A>G	uc001uje.2	+	7	797	c.529A>G	c.(529-531)ATG>GTG	p.M177V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	177	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GAGCAACATGATGGCGGCCAC	0.512												
ULK1	8408	broad.mit.edu	37	12	132394489	132394489	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132394489C>T	uc001uje.2	+	10	1019	c.751C>T	c.(751-753)CTG>TTG	p.L251L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	251	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCGGCCCCGCTGCGGCAGCT	0.716												
GALNT9	50614	broad.mit.edu	37	12	132688118	132688118	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132688118G>A	uc001ukc.3	-	7	1311	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	GALNT9_uc009zyr.2_Missense_Mutation_p.R173C|GALNT9_uc001ukb.2_Missense_Mutation_p.R256C|GALNT9_uc001uka.2_Missense_Mutation_p.R33C	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	399	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		TCGGCGGCGCGCAGGGCGTTG	0.642												
POLE	5426	broad.mit.edu	37	12	133210876	133210876	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:133210876G>A	uc001uks.1	-	43	5944	c.5900C>T	c.(5899-5901)GCG>GTG	p.A1967V	POLE_uc001ukq.1_Missense_Mutation_p.A177V|POLE_uc001ukr.1_Missense_Mutation_p.A771V|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1967					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGATtcctccgcctcttcctc	0.313								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
ZMYM5	9205	broad.mit.edu	37	13	20398930	20398930	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20398930C>T	uc010tcn.1	-	8	1962	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	ZMYM5_uc001umm.1_Missense_Mutation_p.R390Q	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	566						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tggaagaatccgtgtataata	0												
ZMYM5	9205	broad.mit.edu	37	13	20411871	20411871	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20411871G>T	uc010tcn.1	-	6	1228	c.963C>A	c.(961-963)CCC>CCA	p.P321P	ZMYM5_uc001umm.1_Silent_p.P145P|ZMYM5_uc001umn.2_Silent_p.P321P|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	321	MYM-type 2.					nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGTTTTCACAGGGAGACAAAC	0.328												
SACS	26278	broad.mit.edu	37	13	23910322	23910322	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23910322A>G	uc001uon.2	-	10	8282	c.7693T>C	c.(7693-7695)TTT>CTT	p.F2565L	SACS_uc001uoo.2_Missense_Mutation_p.F2418L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2565					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAGGATCAAACACAAAACAG	0.398												
SACS	26278	broad.mit.edu	37	13	23911920	23911920	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23911920G>A	uc001uon.2	-	10	6684	c.6095C>T	c.(6094-6096)TCG>TTG	p.S2032L	SACS_uc001uoo.2_Missense_Mutation_p.S1885L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2032			Missing (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATTTTACCGAAGAAGGAAG	0.348												
SACS	26278	broad.mit.edu	37	13	23913665	23913665	+	Silent	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23913665T>A	uc001uon.2	-	10	4939	c.4350A>T	c.(4348-4350)GGA>GGT	p.G1450G	SACS_uc001uoo.2_Silent_p.G1303G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1450					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTGCTCAAATCCCATGTTTT	0.363												
SACS	26278	broad.mit.edu	37	13	23928948	23928948	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23928948A>G	uc001uon.2	-	8	2392	c.1803T>C	c.(1801-1803)ATT>ATC	p.I601I	SACS_uc001uoo.2_Silent_p.I454I|SACS_uc001uop.1_Silent_p.I388I|SACS_uc001uoq.1_Silent_p.I454I	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	601					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTACCTTGGCAATCTGCTTCC	0.532												
SACS	26278	broad.mit.edu	37	13	23942624	23942624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23942624G>A	uc001uon.2	-	5	851	c.262C>T	c.(262-264)CGA>TGA	p.R88*	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	88					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGACCAAATCGACCTAAAATA	0.393												
MTMR6	9107	broad.mit.edu	37	13	25832819	25832819	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:25832819C>T	uc001uqf.3	-	7	1057	c.738G>A	c.(736-738)ATG>ATA	p.M246I	MTMR6_uc001uqe.1_Missense_Mutation_p.M246I	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	246	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTCTGTTGGCCATTGCATTCA	0.279												
PAN3	255967	broad.mit.edu	37	13	28834653	28834653	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:28834653G>A	uc001urz.2	+	7	888	c.880G>A	c.(880-882)GCA>ACA	p.A294T	PAN3_uc010tdo.1_Missense_Mutation_p.A440T|PAN3_uc001ury.2_Missense_Mutation_p.A128T|PAN3_uc001urx.2_Missense_Mutation_p.A240T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	440	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAAGCAAACGCACCTTCCTT	0.418												
DGKH	160851	broad.mit.edu	37	13	42772702	42772702	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:42772702G>A	uc001uyl.1	+	18	2277	c.2256G>A	c.(2254-2256)ACG>ACA	p.T752T	DGKH_uc010tfh.1_Silent_p.T752T|DGKH_uc001uym.1_Silent_p.T752T|DGKH_uc010tfi.1_Silent_p.T507T|DGKH_uc010tfj.1_Silent_p.T607T|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.T607T|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	752					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGGTGCCACGCCGTTTATTG	0.373												
ENOX1	55068	broad.mit.edu	37	13	43900635	43900635	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:43900635C>T	uc001uza.3	-	10	1363	c.1063G>A	c.(1063-1065)GCT>ACT	p.A355T	ENOX1_uc001uzb.3_Missense_Mutation_p.A355T|ENOX1_uc001uzc.3_Missense_Mutation_p.A355T|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Missense_Mutation_p.A168T	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	355					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTGGTAGAAGCGTTGAAAACG	0.408												
SLC25A30	253512	broad.mit.edu	37	13	45976499	45976499	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:45976499T>A	uc001vag.2	-	6	537	c.400A>T	c.(400-402)ATG>TTG	p.M134L	SLC25A30_uc010tfs.1_Missense_Mutation_p.M59L|SLC25A30_uc001vah.2_Missense_Mutation_p.M59L|SLC25A30_uc010tft.1_Missense_Mutation_p.M83L|SLC25A30_uc001vaf.2_5'UTR	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	134	Solcar 2.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGCGCTTGCATCCGAATCTAG	0.443												
LCP1	3936	broad.mit.edu	37	13	46721114	46721114	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46721114G>A	uc001vaz.3	-	10	1229	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V	LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.A368V	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	368	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AAAGAGGTTGGCAATAAAAGC	0.527			T	BCL6	NHL 							
C13orf18	80183	broad.mit.edu	37	13	46946248	46946248	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46946248A>G	uc010acl.2	-	3	968	c.363T>C	c.(361-363)AGT>AGC	p.S121S	C13orf18_uc001vbf.3_Silent_p.S54S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.S121S|C13orf18_uc001vbh.3_Silent_p.S121S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.S121S|C13orf18_uc010tga.1_Silent_p.S54S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	121	Ser-rich.										0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		TACTCTTTTCACTCGAGCCAT	0.577												
CAB39L	81617	broad.mit.edu	37	13	49918315	49918315	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:49918315A>G	uc001vcw.2	-	6	1122	c.624T>C	c.(622-624)ACT>ACC	p.T208T	CAB39L_uc001vcx.2_Silent_p.T208T|CAB39L_uc010adf.2_Silent_p.T205T	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	208					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TTCTACTTACAGTGTCGTAAT	0.353												
PHF11	51131	broad.mit.edu	37	13	50097359	50097359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:50097359G>T	uc001vdb.2	+	7	956	c.619G>T	c.(619-621)GAG>TAG	p.E207*	PHF11_uc001vdc.2_Nonsense_Mutation_p.E168*|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		AGTGAAAGAAGAGCATGGCAG	0.348												
PCDH17	27253	broad.mit.edu	37	13	58207120	58207120	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:58207120C>T	uc001vhq.1	+	1	1332	c.440C>T	c.(439-441)CCG>CTG	p.P147L	PCDH17_uc010aec.1_Missense_Mutation_p.P147L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGCTGCTCCGGGCACCCGC	0.617												
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77632491G>A	uc001vkf.2	-	79	13168	c.13077C>T	c.(13075-13077)TGC>TGT	p.C4359C	MYCBP2_uc010aev.2_Silent_p.C3763C|MYCBP2_uc001vke.2_Silent_p.C976C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448												
MYCBP2	23077	broad.mit.edu	37	13	77862444	77862444	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77862444T>C	uc001vkf.2	-	4	423	c.332A>G	c.(331-333)AAT>AGT	p.N111S	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACAGTAAATATTGAAAGCAGA	0.363												
SLITRK1	114798	broad.mit.edu	37	13	84453682	84453682	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84453682G>A	uc001vlk.2	-	1	2847	c.1961C>T	c.(1960-1962)GCC>GTC	p.A654V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	654	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGAGGAGTTGGCATCTCGTCT	0.562												
SLITRK1	114798	broad.mit.edu	37	13	84454544	84454544	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84454544A>C	uc001vlk.2	-	1	1985	c.1099T>G	c.(1099-1101)TTG>GTG	p.L367V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	367	Extracellular (Potential).|LRRNT 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATCAGCCAAGCTGCTCACG	0.502												
SLITRK1	114798	broad.mit.edu	37	13	84455457	84455457	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84455457A>G	uc001vlk.2	-	1	1072	c.186T>C	c.(184-186)CAT>CAC	p.H62H		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	62	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGAAATAAATGGTAAAACT	0.443												
DCT	1638	broad.mit.edu	37	13	95131277	95131277	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:95131277C>T	uc001vlv.3	-	1	660	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DCT_uc010afh.2_Missense_Mutation_p.R78Q	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	78	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATCCTGGTTTCGTAGGATGTA	0.612												
ABCC4	10257	broad.mit.edu	37	13	95686970	95686970	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:95686970T>A	uc001vmd.3	-	30	3878	c.3759A>T	c.(3757-3759)AAA>AAT	p.K1253N	ABCC4_uc010afj.2_Missense_Mutation_p.K44N|ABCC4_uc010afk.2_Missense_Mutation_p.K1206N	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1253	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CATCATATTCTTTCAGTCTTC	0.388												
UBAC2	337867	broad.mit.edu	37	13	99992580	99992580	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:99992580G>A	uc001voa.3	+	7	1052	c.568G>A	c.(568-570)GGT>AGT	p.G190S	UBAC2_uc010tiu.1_Missense_Mutation_p.G212S|UBAC2_uc001vob.3_Missense_Mutation_p.G163S|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Missense_Mutation_p.G77S|UBAC2_uc001voc.2_Missense_Mutation_p.G155S|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_5'UTR	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2 isoform 1	190	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGATGTCCGGTCTGTGCTA	0.423												
PCCA	5095	broad.mit.edu	37	13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:100909900G>A	uc001voo.2	+	9	727	c.689G>A	c.(688-690)CGC>CAC	p.R230H	PCCA_uc010aga.2_Missense_Mutation_p.R204H|PCCA_uc010tiz.1_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443												
COL4A2	1284	broad.mit.edu	37	13	111156281	111156281	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:111156281G>T	uc001vqx.2	+	44	4515	c.4226G>T	c.(4225-4227)AGG>ATG	p.R1409M		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1409	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCCAGGGGAGGCGAGGCCCC	0.721												
ING1	3621	broad.mit.edu	37	13	111372042	111372042	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:111372042C>T	uc001vri.2	+	2	1464	c.1032C>T	c.(1030-1032)GCC>GCT	p.A344A	ING1_uc001vrf.2_Silent_p.A157A|ING1_uc001vrg.2_Silent_p.A132A|ING1_uc001vrh.2_Silent_p.A201A	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	344					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGTCCCCTGCCGACCTCCCCA	0.627												
LAMP1	3916	broad.mit.edu	37	13	113975961	113975961	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:113975961C>T	uc001vtm.1	+	8	1314	c.1033C>T	c.(1033-1035)CGT>TGT	p.R345C	LAMP1_uc010tka.1_Missense_Mutation_p.R292C	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	345	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGAGCACGTCCGTGTCACGAA	0.567												
GRTP1	79774	broad.mit.edu	37	13	114005253	114005253	+	Missense_Mutation	SNP	G	G	A	rs146277531	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:114005253G>A	uc001vtn.2	-	4	473	c.376C>T	c.(376-378)CGG>TGG	p.R126W	GRTP1_uc010tkb.1_Missense_Mutation_p.R48W|GRTP1_uc010tkc.1_Missense_Mutation_p.R126W|GRTP1_uc010agv.1_RNA	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	126	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTGGTCTTCCGGAACTTCACG	0.582												
FAM70B	348013	broad.mit.edu	37	13	114469190	114469190	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:114469190C>T	uc001vuh.2	+	2	176	c.149C>T	c.(148-150)ACG>ATG	p.T50M	FAM70B_uc010tkh.1_Missense_Mutation_p.T50M	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	50						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			ACCACCAGGACGGAGAATGTG	0.652												
RNASE7	84659	broad.mit.edu	37	14	21511371	21511371	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:21511371G>A	uc001vzk.3	+	2	477	c.220G>A	c.(220-222)GAG>AAG	p.E74K	NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7 precursor	74					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCCTGCACGAGCCTTTCTC	0.542												
FLJ10357	55701	broad.mit.edu	37	14	21542132	21542132	+	Silent	SNP	G	G	A	rs114625560	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:21542132G>A	uc001vzp.2	+	3	272	c.243G>A	c.(241-243)CCG>CCA	p.P81P	FLJ10357_uc001vzn.1_Silent_p.P81P|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	81					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGGGGTGGCCGCTCTGCCTGC	0.617												
PRMT5	10419	broad.mit.edu	37	14	23397733	23397733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:23397733G>A	uc001whm.1	-	2	293	c.202C>T	c.(202-204)CGA>TGA	p.R68*	PRMT5_uc001whl.1_Nonsense_Mutation_p.R51*|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Nonsense_Mutation_p.R51*|PRMT5_uc010tnh.1_Nonsense_Mutation_p.R68*|PRMT5_uc001whn.1_Nonsense_Mutation_p.R51*	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	68					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGGTCTGATCGTGTCTGGGGA	0.507												
MYH7	4625	broad.mit.edu	37	14	23898199	23898199	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:23898199C>T	uc001wjx.2	-	14	1478	c.1372G>A	c.(1372-1374)GGA>AGA	p.G458R		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	458	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGGACTCCTATGAAGTAC	0.522												
RNF31	55072	broad.mit.edu	37	14	24620520	24620520	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24620520G>T	uc001wmn.1	+	9	1918	c.1669G>T	c.(1669-1671)GCC>TCC	p.A557S	RNF31_uc001wml.1_Missense_Mutation_p.A406S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.A316S|RNF31_uc001wmo.1_Missense_Mutation_p.A24S|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	557					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GGCCCGGAGAGCCTGGCTGGA	0.602												
REC8	9985	broad.mit.edu	37	14	24641958	24641958	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24641958C>T	uc001wmr.2	+	3	520	c.93C>T	c.(91-93)CGC>CGT	p.R31R	REC8_uc001wms.2_Silent_p.R31R	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	31					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		TGGTGAAGCGCGAATACCTGA	0.637												
NYNRIN	57523	broad.mit.edu	37	14	24884675	24884675	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24884675G>A	uc001wpf.3	+	9	4038	c.3720G>A	c.(3718-3720)GCG>GCA	p.A1240A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1240					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GGACCACTGCGGACCCTGAGG	0.617												
NPAS3	64067	broad.mit.edu	37	14	34269448	34269448	+	Silent	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:34269448G>C	uc001wru.2	+	12	1999	c.1935G>C	c.(1933-1935)GTG>GTC	p.V645V	NPAS3_uc001wrs.2_Silent_p.V632V|NPAS3_uc001wrt.2_Silent_p.V613V|NPAS3_uc001wrv.2_Silent_p.V615V	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGCCTCGGTGCTCAAGATCA	0.657												
PAX9	5083	broad.mit.edu	37	14	37132207	37132207	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:37132207T>C	uc001wty.3	+	3	827	c.110T>C	c.(109-111)ATC>ACC	p.I37T	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	37	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAACTGGGCATCCGACCGTGT	0.652												
NIN	51199	broad.mit.edu	37	14	51224918	51224918	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:51224918G>A	uc001wym.2	-	18	3021	c.2830C>T	c.(2830-2832)CAC>TAC	p.H944Y	NIN_uc001wyi.2_Missense_Mutation_p.H944Y|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.H950Y|NIN_uc001wyo.2_Missense_Mutation_p.H944Y	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	944	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCCTTTTGTGACTGCTCTTC	0.542			T	PDGFRB	MPD							
PELI2	57161	broad.mit.edu	37	14	56755227	56755227	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:56755227G>A	uc001xch.2	+	4	668	c.382G>A	c.(382-384)GAA>AAA	p.E128K		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	128					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						GAACACGGACGAAGCCCAGAT	0.507												
MUDENG	55745	broad.mit.edu	37	14	57741440	57741440	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:57741440A>G	uc001xcv.2	+	2	980	c.553A>G	c.(553-555)AAT>GAT	p.N185D	MUDENG_uc001xcu.3_Missense_Mutation_p.N185D|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.N82D	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	185					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						AGATAATACCAATTTTGCATC	0.393												
ACTR10	55860	broad.mit.edu	37	14	58678087	58678087	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:58678087T>A	uc001xdf.2	+	5	523	c.420T>A	c.(418-420)GAT>GAA	p.D140E	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Translation_Start_Site|ACTR10_uc001xdh.2_Translation_Start_Site|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	140						cytoplasm				central_nervous_system(1)	1						TGGTCCTAGATTGTGGATATA	0.378												
SNAPC1	6617	broad.mit.edu	37	14	62248987	62248987	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:62248987G>A	uc001xft.2	+	8	952	c.848G>A	c.(847-849)CGT>CAT	p.R283H		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	283					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGAAGGCATCGTCAAGTCAAA	0.353												
SYNE2	23224	broad.mit.edu	37	14	64522715	64522715	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:64522715C>T	uc001xgm.2	+	49	10028	c.9798C>T	c.(9796-9798)ACC>ACT	p.T3266T	SYNE2_uc001xgl.2_Silent_p.T3266T|SYNE2_uc010apw.1_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3266	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCAGTCACCAGGGCAGTGG	0.393												
TMEM229B	161145	broad.mit.edu	37	14	67940344	67940344	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:67940344G>A	uc001xjk.2	-	3	707	c.297C>T	c.(295-297)AAC>AAT	p.N99N	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	99	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						AGGGGCAGGCGTTGAACTGGC	0.647												
ZFYVE26	23503	broad.mit.edu	37	14	68249547	68249547	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:68249547T>C	uc001xka.2	-	21	4461	c.4322A>G	c.(4321-4323)GAC>GGC	p.D1441G	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.D1441G	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1441					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTCAAATCGTCCACATCTCG	0.502												
DCAF5	8816	broad.mit.edu	37	14	69521972	69521972	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:69521972G>A	uc001xkp.2	-	9	1650	c.1431C>T	c.(1429-1431)GCC>GCT	p.A477A	DCAF5_uc001xkq.2_Silent_p.A476A	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	477						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						AGGCGTTGTCGGCAGACTCAT	0.627												
SIPA1L1	26037	broad.mit.edu	37	14	72190527	72190527	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:72190527G>A	uc001xms.2	+	16	4783	c.4435G>A	c.(4435-4437)GCT>ACT	p.A1479T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1458T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1458T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1479T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A933T|SIPA1L1_uc001xmw.2_Missense_Mutation_p.A244T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1479	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGCCAGGGCGCTACTAGCAA	0.428												
DCAF4	26094	broad.mit.edu	37	14	73425339	73425339	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73425339G>A	uc001xng.2	+	14	1534	c.1314G>A	c.(1312-1314)ACG>ACA	p.T438T	DCAF4_uc001xnj.2_Silent_p.T432T|DCAF4_uc010ttr.1_Silent_p.T417T|DCAF4_uc001xnh.2_Silent_p.T338T|DCAF4_uc010tts.1_Silent_p.T378T|DCAF4_uc010ttt.1_Silent_p.T224T|DCAF4_uc001xni.2_Silent_p.T268T	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	438	WD 2.					CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACTGCTACACGAGAATCTGGA	0.567												
PAPLN	89932	broad.mit.edu	37	14	73727431	73727431	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73727431C>A	uc010ttx.1	+	16	2163	c.2000C>A	c.(1999-2001)CCT>CAT	p.P667H	PAPLN_uc001xnw.3_Missense_Mutation_p.P640H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P667H|PAPLN_uc010arm.2_Translation_Start_Site|PAPLN_uc010arn.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	667						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGTGCTGCCCTGACAGGGTA	0.657												
ZNF410	57862	broad.mit.edu	37	14	74371775	74371775	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:74371775G>A	uc001xoz.1	+	7	1084	c.902G>A	c.(901-903)CGC>CAC	p.R301H	ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_Missense_Mutation_p.R32H|ZNF410_uc010tuh.1_Missense_Mutation_p.R228H|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.R318H|ZNF410_uc001xpa.1_Missense_Mutation_p.R105H|ZNF410_uc001xpb.1_Missense_Mutation_p.R301H|ZNF410_uc001xpc.1_Missense_Mutation_p.R248H|ZNF410_uc010tuj.1_Missense_Mutation_p.R105H	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	301	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AACCACCGGCGCATCCACACA	0.517												
RPS6KL1	83694	broad.mit.edu	37	14	75373815	75373815	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:75373815C>T	uc010tux.1	-	11	2080	c.1552G>A	c.(1552-1554)GAG>AAG	p.E518K	RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc001xqw.2_Missense_Mutation_p.E487K|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	518	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGGTAGGCTCGAACTGCAGC	0.597												
MLH3	27030	broad.mit.edu	37	14	75509174	75509174	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:75509174T>G	uc001xrd.1	-	3	3503	c.3287A>C	c.(3286-3288)CAG>CCG	p.Q1096P	MLH3_uc001xre.1_Missense_Mutation_p.Q1096P|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1096					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACACCTGTACTGAGACCCTAA	0.378								MMR				
TTLL5	23093	broad.mit.edu	37	14	76249812	76249812	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:76249812C>A	uc001xrx.2	+	26	3130	c.2925C>A	c.(2923-2925)TCC>TCA	p.S975S	TTLL5_uc010ask.1_Silent_p.S989S|TTLL5_uc001xrz.2_Silent_p.S550S|TTLL5_uc001xsa.2_Silent_p.S48S|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	975					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTTTTCTTCCTTCCAAAGTG	0.537												
SPTLC2	9517	broad.mit.edu	37	14	78063576	78063576	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:78063576A>G	uc001xub.2	-	2	468	c.280T>C	c.(280-282)TGG>CGG	p.W94R		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	94						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAATTCTCCAATACCTCAAG	0.393												
C14orf156	81892	broad.mit.edu	37	14	78174534	78174534	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:78174534C>T	uc001xue.3	+	1	110	c.80C>T	c.(79-81)CCT>CTT	p.P27L	ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank	NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	27	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		AGAAGAATTCCTTGGACTGCG	0.502												
NRXN3	9369	broad.mit.edu	37	14	79181439	79181439	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:79181439C>T	uc001xun.2	+	5	1373	c.882C>T	c.(880-882)TGC>TGT	p.C294C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.C428C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	667	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTCATCTGCGACTGCACCG	0.572												
STON2	85439	broad.mit.edu	37	14	81744393	81744393	+	Missense_Mutation	SNP	C	C	T	rs150621878		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:81744393C>T	uc010tvu.1	-	4	1463	c.1262G>A	c.(1261-1263)CGG>CAG	p.R421Q	STON2_uc001xvk.1_Missense_Mutation_p.R421Q|STON2_uc010tvt.1_Missense_Mutation_p.R218Q	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	421					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCTGGGACCGTGCTGATCC	0.527												
STON2	85439	broad.mit.edu	37	14	81744680	81744680	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:81744680G>T	uc010tvu.1	-	4	1176	c.975C>A	c.(973-975)CCC>CCA	p.P325P	STON2_uc001xvk.1_Silent_p.P325P|STON2_uc010tvt.1_Silent_p.P122P	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	325					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATAGGGGAGGGCTGTACAT	0.507												
RIN3	79890	broad.mit.edu	37	14	93142923	93142923	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:93142923C>A	uc001yap.2	+	8	2591	c.2439C>A	c.(2437-2439)CTC>CTA	p.L813L	RIN3_uc010auk.2_Silent_p.L475L|RIN3_uc001yaq.2_Silent_p.L738L|RIN3_uc001yas.1_Silent_p.L475L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	813	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGATGGAGCTCATGGACCCCG	0.617												
EML1	2009	broad.mit.edu	37	14	100380563	100380563	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:100380563C>T	uc001ygs.2	+	14	1611	c.1542C>T	c.(1540-1542)GGC>GGT	p.G514G	EML1_uc010tww.1_Silent_p.G502G|EML1_uc001ygr.2_Silent_p.G533G	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	514						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGGGAAAGGCGATGTGATCT	0.468												
TECPR2	9895	broad.mit.edu	37	14	102916927	102916927	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:102916927G>T	uc001ylw.1	+	15	3495	c.3347G>T	c.(3346-3348)GGG>GTG	p.G1116V	TECPR2_uc010awl.2_Missense_Mutation_p.G1116V|TECPR2_uc010txx.1_Missense_Mutation_p.G279V	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1116							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTTCCCCGTGGGACAGCTTCT	0.463												
PPP1R13B	23368	broad.mit.edu	37	14	104204115	104204115	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:104204115A>C	uc001yof.1	-	15	3230	c.2947T>G	c.(2947-2949)TCA>GCA	p.S983A	PPP1R13B_uc010awv.1_Intron	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	983	ANK 2.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTTATGGTTGAGGCAAAAATG	0.552												
INF2	64423	broad.mit.edu	37	14	105178032	105178032	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105178032G>A	uc001ypb.2	+	16	2628	c.2485G>A	c.(2485-2487)GCA>ACA	p.A829T	INF2_uc010tyi.1_Missense_Mutation_p.A829T|INF2_uc001ypc.2_Missense_Mutation_p.A829T|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	829	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTCGCAAGCAGCAGGGTAGGT	0.667												
AHNAK2	113146	broad.mit.edu	37	14	105418613	105418613	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105418613C>T	uc010axc.1	-	7	3295	c.3175G>A	c.(3175-3177)GCT>ACT	p.A1059T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A959T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1059						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTGGTCAGCCTGGACCTTC	0.612												
PACS2	23241	broad.mit.edu	37	14	105849842	105849842	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105849842T>A	uc001yqt.2	+	16	1935	c.1760T>A	c.(1759-1761)ATC>AAC	p.I587N	PACS2_uc001yqs.2_Missense_Mutation_p.I512N|PACS2_uc001yqv.2_Missense_Mutation_p.I591N|PACS2_uc001yqu.2_Missense_Mutation_p.I591N	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	587					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TTCCTGGTCATCCCACTGGGT	0.507												
HERC2	8924	broad.mit.edu	37	15	28443768	28443768	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:28443768A>T	uc001zbj.2	-	49	7970	c.7864T>A	c.(7864-7866)TAC>AAC	p.Y2622N	HERC2_uc001zbk.1_Missense_Mutation_p.Y157N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2622					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACATGAATGTACCTAACCCAG	0.398												
HERC2	8924	broad.mit.edu	37	15	28446681	28446681	+	Missense_Mutation	SNP	G	G	A	rs138887223		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:28446681G>A	uc001zbj.2	-	48	7743	c.7637C>T	c.(7636-7638)ACG>ATG	p.T2546M	HERC2_uc001zbk.1_Missense_Mutation_p.T81M	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2546					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGGCTCTCCGTCACAACAGC	0.353												
APBA2	321	broad.mit.edu	37	15	29406137	29406137	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:29406137G>A	uc001zck.2	+	13	2303	c.2096G>A	c.(2095-2097)CGC>CAC	p.R699H	APBA2_uc010uat.1_Missense_Mutation_p.R687H|APBA2_uc001zcl.2_Missense_Mutation_p.R687H	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	699	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGGGCCACCGCATCATCGAG	0.607												
FMN1	342184	broad.mit.edu	37	15	33359153	33359153	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:33359153C>T	uc001zhf.3	-	1	933	c.933G>A	c.(931-933)ACG>ACA	p.T311T	FMN1_uc001zhg.2_Silent_p.T311T	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCACAGGCTGCGTCAATTTGA	0.547												
RYR3	6263	broad.mit.edu	37	15	34049794	34049794	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:34049794C>T	uc001zhi.2	+	60	8772	c.8702C>T	c.(8701-8703)GCC>GTC	p.A2901V	RYR3_uc010bar.2_Missense_Mutation_p.A2901V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATGGTGGCCGGGTGAGTC	0.483												
AQR	9716	broad.mit.edu	37	15	35182476	35182476	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:35182476C>T	uc001ziv.2	-	24	2802	c.2621G>A	c.(2620-2622)CGC>CAC	p.R874H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	874						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGTAGGTGGCGCTCATCAAT	0.433												
RASGRP1	10125	broad.mit.edu	37	15	38786607	38786607	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:38786607C>T	uc001zke.3	-	16	2413	c.2235G>A	c.(2233-2235)CTG>CTA	p.L745L	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Silent_p.L710L	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	745	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGTAGGTAGGCAGTCTGAGGT	0.468												
BMF	90427	broad.mit.edu	37	15	40396430	40396430	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:40396430C>T	uc001zkv.2	-	3	490	c.404G>A	c.(403-405)CGA>CAA	p.R135Q	BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.R135Q	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	135	BH3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGAAGCTTTCGGGCAATCTG	0.597												
BUB1B	701	broad.mit.edu	37	15	40504822	40504822	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:40504822C>T	uc001zkx.3	+	19	2720	c.2508C>T	c.(2506-2508)CAC>CAT	p.H836H		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	836	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTGTTTGGCACCAATATATAA	0.328			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
VPS18	57617	broad.mit.edu	37	15	41191717	41191717	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41191717G>A	uc001zne.2	+	4	1040	c.701G>A	c.(700-702)CGA>CAA	p.R234Q		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	234					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCATAGGCCGAGCAGCAGAG	0.627												
VPS18	57617	broad.mit.edu	37	15	41192111	41192111	+	Silent	SNP	G	G	A	rs140464667	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41192111G>A	uc001zne.2	+	4	1434	c.1095G>A	c.(1093-1095)CCG>CCA	p.P365P		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	365					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AATTTGGGCCGCTGAAGCACA	0.617												
VPS18	57617	broad.mit.edu	37	15	41192635	41192635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41192635G>A	uc001zne.2	+	4	1958	c.1619G>A	c.(1618-1620)CGG>CAG	p.R540Q		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	540					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTTGCCAGCCGGGCCTCTATC	0.577												
MGA	23269	broad.mit.edu	37	15	42041783	42041783	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:42041783T>G	uc010ucy.1	+	17	6159	c.5978T>G	c.(5977-5979)GTT>GGT	p.V1993G	MGA_uc010ucz.1_Missense_Mutation_p.V1784G|MGA_uc010uda.1_Missense_Mutation_p.V609G|MGA_uc001zoi.2_Missense_Mutation_p.V207G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1954	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACGAAGAAGGTTCTACAGTCA	0.413												
ZFP106	64397	broad.mit.edu	37	15	42734523	42734523	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:42734523C>T	uc001zpw.2	-	7	3777	c.3442G>A	c.(3442-3444)GCC>ACC	p.A1148T	ZFP106_uc001zpu.2_Missense_Mutation_p.A333T|ZFP106_uc001zpv.2_Missense_Mutation_p.A333T|ZFP106_uc001zpx.2_Missense_Mutation_p.A376T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1148						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGCAGTGCGGCATCAATGGAT	0.507												
SERINC4	619189	broad.mit.edu	37	15	44087241	44087241	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:44087241C>T	uc010bds.1	-	9	1250	c.782G>A	c.(781-783)CGC>CAC	p.R261H	ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_3'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.R261H	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	505					phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GATGCGGTGGCGGCGGCGCCT	0.557												
MFAP1	4236	broad.mit.edu	37	15	44105302	44105302	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:44105302C>T	uc001zth.1	-	6	954	c.770G>A	c.(769-771)CGA>CAA	p.R257Q		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	257						microfibril				skin(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AGCCAGGGATCGCTTGTTCTC	0.438												
C15orf43	145645	broad.mit.edu	37	15	45249094	45249094	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:45249094T>C	uc001zuk.2	+	2	82	c.65T>C	c.(64-66)GTG>GCG	p.V22A		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	22											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ACCTCCACAGTGGCTGAAGGG	0.602												
CEP152	22995	broad.mit.edu	37	15	49030679	49030679	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:49030679G>A	uc001zwy.2	-	26	4766	c.4732C>T	c.(4732-4734)CGT>TGT	p.R1578C	CEP152_uc001zwz.2_Missense_Mutation_p.R1634C	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1578					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTTGATAACGCTGACATTTC	0.383												
HDC	3067	broad.mit.edu	37	15	50534778	50534778	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:50534778C>T	uc001zxz.2	-	12	1774	c.1668G>A	c.(1666-1668)GAG>GAA	p.E556E	HDC_uc001zxy.2_Silent_p.E299E|HDC_uc010uff.1_Silent_p.E523E	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	556					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATCTGGGGCCTCTTCTGAAA	0.537												
TRPM7	54822	broad.mit.edu	37	15	50867312	50867312	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:50867312G>A	uc001zyt.3	-	34	5020	c.4756C>T	c.(4756-4758)CGT>TGT	p.R1586C	TRPM7_uc001zyr.2_Missense_Mutation_p.R23C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1586	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCCAAACGATACACTGTG	0.363												
CYP19A1	1588	broad.mit.edu	37	15	51504657	51504657	+	Missense_Mutation	SNP	G	G	A	rs121434536		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:51504657G>A	uc001zyz.3	-	10	1374	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	CYP19A1_uc001zza.3_Missense_Mutation_p.R375C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R375C	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	375			R -> L.|R -> C (in AROD).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AAGGCTTTGCGCATGACCAAG	0.408												
LEO1	123169	broad.mit.edu	37	15	52244164	52244164	+	Silent	SNP	C	C	T	rs142218056		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:52244164C>T	uc002abo.2	-	9	1504	c.1488G>A	c.(1486-1488)ACG>ACA	p.T496T	LEO1_uc010bfd.2_Silent_p.T436T	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	496					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TGGCACTGTCCGTAGAGTGAG	0.448												
MYO5A	4644	broad.mit.edu	37	15	52606371	52606371	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:52606371T>C	uc002aby.2	-	40	5608	c.5364A>G	c.(5362-5364)CCA>CCG	p.P1788P	MYO5A_uc002abx.3_Silent_p.P1761P|MYO5A_uc010ugd.1_Silent_p.P510P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1788	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTCATTAACTGGAGTATACA	0.348												
UNC13C	440279	broad.mit.edu	37	15	54586261	54586261	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:54586261A>C	uc002ack.2	+	9	3987	c.3987A>C	c.(3985-3987)TTA>TTC	p.L1329F	UNC13C_uc002acl.2_Missense_Mutation_p.L159F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1329					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)		GGTACAACTTAGGTGATTTTT	0.353												
TLN2	83660	broad.mit.edu	37	15	63044602	63044602	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63044602T>A	uc002alb.3	+	32	4308	c.4308T>A	c.(4306-4308)TGT>TGA	p.C1436*	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1436					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGGCTCTCTGTGGGCTGACAG	0.597												
TLN2	83660	broad.mit.edu	37	15	63053883	63053883	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63053883C>A	uc002alb.3	+	35	4642	c.4642C>A	c.(4642-4644)CTG>ATG	p.L1548M	TLN2_uc002alc.3_Translation_Start_Site|TLN2_uc002ald.2_Translation_Start_Site	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1548					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCATCAGGCCCTGGATGGGGA	0.493												
TPM1	7168	broad.mit.edu	37	15	63356328	63356328	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63356328G>A	uc002alg.2	+	9	1029	c.838G>A	c.(838-840)GAT>AAT	p.D280N	TPM1_uc002alh.2_Missense_Mutation_p.D280N|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc010uie.1_Missense_Mutation_p.D280N|TPM1_uc002alp.2_Missense_Mutation_p.D280N|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	280	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						CGCTCTCAACGATATGACTTC	0.498												
ZNF609	23060	broad.mit.edu	37	15	64792134	64792134	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:64792134C>T	uc002ann.2	+	1	516	c.516C>T	c.(514-516)AGC>AGT	p.S172S	ZNF609_uc010bgy.2_Silent_p.S172S	NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	172						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AGGAGAGAAGCGAAGGAGTGG	0.557												
PIF1	80119	broad.mit.edu	37	15	65110214	65110214	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:65110214C>T	uc002ant.2	-	11	1671	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	PIF1_uc002anr.2_Silent_p.G83G|PIF1_uc002ans.2_Silent_p.G226G|PIF1_uc010uiq.1_Silent_p.G535G	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	535	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						GGAGCTGGCCCCCGGTGGCCT	0.667												
CORO2B	10391	broad.mit.edu	37	15	69011561	69011561	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:69011561G>T	uc002arj.3	+	10	1188	c.1159G>T	c.(1159-1161)GGC>TGC	p.G387C	CORO2B_uc010bic.2_Missense_Mutation_p.G382C|CORO2B_uc002ark.2_Missense_Mutation_p.G154C	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	387					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						ATGGCTGGGAGGCATCAACCG	0.602												
KIF23	9493	broad.mit.edu	37	15	69733281	69733281	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:69733281C>T	uc002asb.2	+	18	2359	c.2242C>T	c.(2242-2244)CGT>TGT	p.R748C	KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Missense_Mutation_p.R638C|KIF23_uc010ukc.1_Intron	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	748					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TATTGCAAGGCGTAGGCAGCA	0.483												
ARIH1	25820	broad.mit.edu	37	15	72873215	72873215	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:72873215T>C	uc002aut.3	+	12	1673	c.1359T>C	c.(1357-1359)ATT>ATC	p.I453I		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	453					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGTCCTGGATTGAGGTGCAGT	0.468												
ISLR	3671	broad.mit.edu	37	15	74467395	74467395	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:74467395C>A	uc002axg.1	+	2	478	c.196C>A	c.(196-198)CCG>ACG	p.P66T	ISLR_uc002axh.1_Missense_Mutation_p.P66T	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	66	LRR 1.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GCCAGGCTTGCCGGAGGGTGC	0.667												
CLK3	1198	broad.mit.edu	37	15	74920982	74920982	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:74920982A>C	uc010uln.1	+	11	2068	c.1607A>C	c.(1606-1608)AAG>ACG	p.K536T	CLK3_uc002ayg.3_Missense_Mutation_p.K388T|CLK3_uc002ayh.3_Missense_Mutation_p.K167T|CLK3_uc002ayj.3_Missense_Mutation_p.K365T|CLK3_uc002ayk.3_Missense_Mutation_p.K315T|CLK3_uc002ayl.3_Missense_Mutation_p.K221T	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	536	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						ATGATGGAGAAGATCCTAGGG	0.542												
SIN3A	25942	broad.mit.edu	37	15	75664509	75664509	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:75664509C>A	uc002bai.2	-	21	3892	c.3633G>T	c.(3631-3633)CAG>CAT	p.Q1211H	SIN3A_uc002baj.2_Missense_Mutation_p.Q1211H|SIN3A_uc010uml.1_Missense_Mutation_p.Q1211H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1211					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CTACCCAGGCCTGGAATCTCT	0.493												
NRG4	145957	broad.mit.edu	37	15	76301629	76301629	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:76301629C>T	uc002bbo.2	-	3	200	c.16G>A	c.(16-18)GAA>AAA	p.E6K	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	6	Extracellular (Potential).|EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						CAGGGCTCTTCGTGATCTAGA	0.383												
SGK269	79834	broad.mit.edu	37	15	77471360	77471360	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:77471360C>T	uc002bcm.2	-	3	3217	c.2909G>A	c.(2908-2910)CGC>CAC	p.R970H	SGK269_uc002bcn.2_Missense_Mutation_p.R970H	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	970					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CCAGTGATGGCGCTGAACTGG	0.537												
CHRNA3	1136	broad.mit.edu	37	15	78894269	78894269	+	Missense_Mutation	SNP	G	G	A	rs61737495		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:78894269G>A	uc002bec.2	-	5	901	c.715C>T	c.(715-717)CGC>TGC	p.R239C	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.R239C	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	239	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						AAGGGCAGGCGCCGGATGTAC	0.557												
KIAA1199	57214	broad.mit.edu	37	15	81176550	81176550	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:81176550C>T	uc002bfw.1	+	6	912	c.652C>T	c.(652-654)CGT>TGT	p.R218C	KIAA1199_uc010unn.1_Missense_Mutation_p.R218C	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	218										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AGAGAGTGAACGTCTGGTCCA	0.473												
EFTUD1	79631	broad.mit.edu	37	15	82444436	82444436	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:82444436C>T	uc002bgt.1	-	18	2528	c.2359G>A	c.(2359-2361)GAA>AAA	p.E787K	EFTUD1_uc002bgs.1_Missense_Mutation_p.E158K|EFTUD1_uc002bgu.1_Missense_Mutation_p.E736K	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	787					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TGAGTATTTTCACCCTCATTC	0.423												
FSD2	123722	broad.mit.edu	37	15	83451733	83451733	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:83451733G>A	uc002bjd.2	-	4	947	c.780C>T	c.(778-780)AAC>AAT	p.N260N	FSD2_uc010uol.1_Silent_p.N260N|FSD2_uc010uom.1_Silent_p.N260N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	260	Potential.									central_nervous_system(1)	1						CCAAGATCTCGTTGTAATGTG	0.383												
WHAMM	123720	broad.mit.edu	37	15	83499687	83499687	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:83499687C>T	uc002bje.2	+	9	2484	c.1978C>T	c.(1978-1980)CGT>TGT	p.R660C		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	660						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						CCCTCCTCTCCGTGCTCTGTC	0.368												
KLHL25	64410	broad.mit.edu	37	15	86312998	86312998	+	Missense_Mutation	SNP	G	G	A	rs149329403	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:86312998G>A	uc002bly.2	-	2	247	c.44C>T	c.(43-45)ACG>ATG	p.T15M		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	15						cytoplasm				ovary(2)	2						CATGGACCCCGTGCTGCTCCG	0.622												
AEN	64782	broad.mit.edu	37	15	89173290	89173290	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:89173290T>C	uc002bmt.2	+	4	894	c.743T>C	c.(742-744)GTG>GCG	p.V248A	AEN_uc010bnm.1_Missense_Mutation_p.V248A	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	248	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						CGTCAGTAGGTGGGCCAGCAC	0.617												
SEMA4B	10509	broad.mit.edu	37	15	90763066	90763066	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:90763066C>T	uc002boy.2	+	5	709	c.426C>T	c.(424-426)AGC>AGT	p.S142S	SEMA4B_uc002boz.2_Silent_p.S142S|SEMA4B_uc010uqd.1_5'UTR|SEMA4B_uc002bpa.2_5'UTR|SEMA4B_uc010bnv.1_5'Flank	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGCCGCTCAGCGGCAGTCACC	0.612											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTLL13	440307	broad.mit.edu	37	15	90800434	90800434	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:90800434C>A	uc002bpd.1	+	7	1058	c.770C>A	c.(769-771)CCT>CAT	p.P257H	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	257	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TCCTGTGACCCTCTCCGGATC	0.517												
IGF1R	3480	broad.mit.edu	37	15	99491899	99491899	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:99491899C>T	uc002bul.2	+	20	3734	c.3684C>T	c.(3682-3684)GGC>GGT	p.G1228G	IGF1R_uc010bon.2_Silent_p.G1227G	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1228	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCATGGAGGGCGGCCTTCTGG	0.572												
ADAMTS17	170691	broad.mit.edu	37	15	100649204	100649204	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:100649204C>T	uc002bvv.1	-	14	2085	c.2006G>A	c.(2005-2007)GGC>GAC	p.G669D	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G426D	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	669	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGGCACTTGCCGTGCACGCA	0.632												
ADAMTS17	170691	broad.mit.edu	37	15	100692868	100692868	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:100692868C>T	uc002bvv.1	-	10	1501	c.1422G>A	c.(1420-1422)GAG>GAA	p.E474E	ADAMTS17_uc002bvx.1_Silent_p.E231E	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	474	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCTGGCACTGCTCGTTGGCAC	0.597												
LRRK1	79705	broad.mit.edu	37	15	101565157	101565157	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:101565157G>T	uc002bwr.2	+	16	2536	c.2217G>T	c.(2215-2217)TGG>TGT	p.W739C	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	739	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGTTCTGGCTGCTCAACA	0.617												
PDIA2	64714	broad.mit.edu	37	16	334457	334457	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:334457C>T	uc002cgn.1	+	7	1378	c.270C>T	c.(268-270)GCC>GCT	p.A90A	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Silent_p.A90A	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	90	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGCTCGCGGCCGAGTCAATGG	0.682												
CCDC78	124093	broad.mit.edu	37	16	774354	774354	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:774354G>A	uc002cjg.2	-	9	1027	c.921C>T	c.(919-921)AGC>AGT	p.S307S	CCDC78_uc002cjf.2_Silent_p.S156S|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Silent_p.S66S|CCDC78_uc010uuo.1_3'UTR|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	307										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CATGCCTGCGGCTCAGATCCA	0.647												
CACNA1H	8912	broad.mit.edu	37	16	1255203	1255203	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1255203C>T	uc002cks.2	+	11	2789	c.2541C>T	c.(2539-2541)TGC>TGT	p.C847C	CACNA1H_uc002ckt.2_Silent_p.C847C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	847	II.|Helical; Name=S2 of repeat II; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGCCTGCGGCCCTCTGG	0.612												
CACNA1H	8912	broad.mit.edu	37	16	1257402	1257402	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1257402C>T	uc002cks.2	+	14	3283	c.3035C>T	c.(3034-3036)GCC>GTC	p.A1012V	CACNA1H_uc002ckt.2_Missense_Mutation_p.A1012V|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1012	II.|Helical; Name=S6 of repeat II; (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCTGGTGGCCATCCTCGTG	0.647												
PKD1	5310	broad.mit.edu	37	16	2140354	2140354	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2140354C>T	uc002cos.1	-	45	12585	c.12376G>A	c.(12376-12378)GAC>AAC	p.D4126N	PKD1_uc002cot.1_Missense_Mutation_p.D4125N|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4126	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ATCTCGTAGTCCTGGGGCTCC	0.677												
PKD1	5310	broad.mit.edu	37	16	2164381	2164381	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2164381G>A	uc002cos.1	-	11	2852	c.2643C>T	c.(2641-2643)TTC>TTT	p.F881F	PKD1_uc002cot.1_Silent_p.F881F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	881	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCCGGGCACGAAGGTGGCCA	0.662												
E4F1	1877	broad.mit.edu	37	16	2282806	2282806	+	Silent	SNP	G	G	A	rs139438270	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2282806G>A	uc002cpm.2	+	6	828	c.780G>A	c.(778-780)TCG>TCA	p.S260S	E4F1_uc010bsi.2_Silent_p.S260S|E4F1_uc010bsj.2_Silent_p.S260S	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	260	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.|C2H2-type 3; degenerate.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCCGGGAGTCGGGTGCACTGA	0.602												
THOC6	79228	broad.mit.edu	37	16	3077501	3077501	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3077501G>A	uc002ctb.2	+	12	1241	c.945G>A	c.(943-945)AAG>AAA	p.K315K	THOC6_uc002ctd.2_Intron|THOC6_uc002ctc.2_Silent_p.K291K|THOC6_uc002cta.2_Silent_p.K291K	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	315	WD 7.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CTGAGTGCAAGGTGGGTCCGG	0.701												
ZSCAN10	84891	broad.mit.edu	37	16	3139421	3139421	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3139421G>A	uc002ctv.1	-	5	1937	c.1849C>T	c.(1849-1851)CGC>TGC	p.R617C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R278C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R535C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R545C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	617	C2H2-type 11.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAGCTATTGCGGAAACGGTGG	0.701												
CLUAP1	23059	broad.mit.edu	37	16	3562425	3562425	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3562425A>G	uc002cvk.1	+	5	547	c.442A>G	c.(442-444)ACC>GCC	p.T148A	CLUAP1_uc002cvj.1_Missense_Mutation_p.T148A|CLUAP1_uc002cvl.1_Missense_Mutation_p.T148A|CLUAP1_uc002cvm.1_Intron	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	148						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GTCTGAAATCACCTCCAAAGG	0.413												
TRAP1	10131	broad.mit.edu	37	16	3740865	3740865	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3740865G>T	uc002cvt.3	-	2	299	c.210C>A	c.(208-210)CCC>CCA	p.P70P	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	70					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TCGAGTGCAGGGGTTCCTCCT	0.617											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SRL	6345	broad.mit.edu	37	16	4292031	4292031	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4292031G>A	uc002cvz.3	-	1	51	c.38C>T	c.(37-39)TCG>TTG	p.S13L	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	13						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						GAACAGGAGCGAGGCCAGGAG	0.632												
UBN1	29855	broad.mit.edu	37	16	4924216	4924216	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4924216C>T	uc002cyb.2	+	15	2144	c.1805C>T	c.(1804-1806)TCG>TTG	p.S602L	UBN1_uc010uxw.1_Missense_Mutation_p.S602L|UBN1_uc002cyc.2_Missense_Mutation_p.S602L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	602					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CTTTAGGAATCGTCTACGAAG	0.443												
UBN1	29855	broad.mit.edu	37	16	4925259	4925259	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4925259G>A	uc002cyb.2	+	15	3187	c.2848G>A	c.(2848-2850)GTC>ATC	p.V950I	UBN1_uc010uxw.1_Missense_Mutation_p.V950I|UBN1_uc002cyc.2_Missense_Mutation_p.V950I	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	950	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGCCGACCCGTCCCAAGTTC	0.602												
PPL	5493	broad.mit.edu	37	16	4943363	4943363	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4943363C>T	uc002cyd.1	-	14	1591	c.1501G>A	c.(1501-1503)GAC>AAC	p.D501N		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	501					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCCTGTAGGTCAGAGGCATCT	0.677												
C16orf68	79091	broad.mit.edu	37	16	8722842	8722842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:8722842C>T	uc002cyz.2	+	3	665	c.389C>T	c.(388-390)GCC>GTC	p.A130V	C16orf68_uc002cza.2_Intron	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	130							methyltransferase activity				0						AGACCACGAGCCGCCTCTGAT	0.582												
KIAA0430	9665	broad.mit.edu	37	16	15719582	15719582	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:15719582G>A	uc002ddr.2	-	8	1793	c.1600C>T	c.(1600-1602)CGC>TGC	p.R534C	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.R530C|KIAA0430_uc010uzw.1_Missense_Mutation_p.R532C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	533						peroxisome	nucleotide binding|RNA binding				0						TCGGACAGGCGTCTGAGCCTG	0.488												
ABCC6	368	broad.mit.edu	37	16	16291913	16291913	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:16291913C>T	uc002den.3	-	10	1340	c.1303G>A	c.(1303-1305)GTC>ATC	p.V435I	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.V447I	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	435	ABC transmembrane type-1 1.|Helical; Name=8; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACGATCCAGACGAGAGGCAGC	0.507												
XYLT1	64131	broad.mit.edu	37	16	17202787	17202787	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:17202787G>A	uc002dfa.2	-	12	2730	c.2645C>T	c.(2644-2646)CCC>CTC	p.P882L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	882	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GGGGTTGATGGGCAGGCTGAG	0.632												
ARL6IP1	23204	broad.mit.edu	37	16	18806827	18806827	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:18806827A>G	uc002dfl.1	-	4	436	c.367T>C	c.(367-369)TGG>CGG	p.W123R	ARL6IP1_uc010van.1_Missense_Mutation_p.W94R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	123						integral to membrane	protein binding				0						AGGCGTTTCCACCAACCCACA	0.378												
TMC7	79905	broad.mit.edu	37	16	19033117	19033117	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:19033117G>T	uc002dfq.2	+	4	757	c.627G>T	c.(625-627)ATG>ATT	p.M209I	TMC7_uc010vao.1_Missense_Mutation_p.M209I|TMC7_uc002dfp.2_Missense_Mutation_p.M209I|TMC7_uc010vap.1_Missense_Mutation_p.M99I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	209	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TCAAAGACATGGGTGAGTGTA	0.398												
DNAH3	55567	broad.mit.edu	37	16	21109957	21109957	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21109957G>A	uc010vbe.1	-	17	2500	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	834	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCAAACGCCCGATTTAGGTTC	0.418												
ANKS4B	257629	broad.mit.edu	37	16	21245076	21245076	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21245076C>T	uc010bwp.1	+	1	61	c.18C>T	c.(16-18)CAC>CAT	p.H6H		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	6										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		CTCGTTACCACCAAGCTGCTA	0.488												
METTL9	51108	broad.mit.edu	37	16	21624076	21624076	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21624076G>A	uc002dje.2	+	2	475	c.276G>A	c.(274-276)TCG>TCA	p.S92S	uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.S92S	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	92										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		TTGAGAAATCGGGCTGGCTAT	0.373												
USP31	57478	broad.mit.edu	37	16	23119471	23119471	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:23119471C>T	uc002dll.2	-	2	667	c.667G>A	c.(667-669)GGA>AGA	p.G223R		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	223					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGGGAATTTCCCCGGTACTGC	0.448												
RBBP6	5930	broad.mit.edu	37	16	24582802	24582802	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:24582802A>T	uc002dmh.2	+	18	5455	c.4415A>T	c.(4414-4416)GAC>GTC	p.D1472V	RBBP6_uc002dmi.2_Missense_Mutation_p.D1438V|RBBP6_uc010bxr.2_Missense_Mutation_p.D632V|RBBP6_uc002dmk.2_Missense_Mutation_p.D1305V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1472	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CCCAATAGAGACAAAAAAACT	0.363												
TNRC6A	27327	broad.mit.edu	37	16	24817979	24817979	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:24817979C>T	uc002dmm.2	+	17	4528	c.4414C>T	c.(4414-4416)CCA>TCA	p.P1472S	TNRC6A_uc010bxs.2_Missense_Mutation_p.P1219S|TNRC6A_uc002dmn.2_Missense_Mutation_p.P1170S|TNRC6A_uc002dmo.2_Missense_Mutation_p.P1111S|TNRC6A_uc002dmp.2_Missense_Mutation_p.P73S|TNRC6A_uc002dmq.2_Missense_Mutation_p.P139S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1472					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GCAGACTCCACCATCTCAGCA	0.483												
ZKSCAN2	342357	broad.mit.edu	37	16	25258441	25258441	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:25258441C>T	uc002dod.3	-	5	1483	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R155H|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R359H	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TTCATAAAAGCGAGACTCTTT	0.473												
CD19	930	broad.mit.edu	37	16	28943679	28943679	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:28943679C>T	uc002drs.2	+	2	163	c.101C>T	c.(100-102)GCT>GTT	p.A34V	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.A34V	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	34	Extracellular (Potential).|Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GGAGATAACGCTGTGCTGCAG	0.612												
MAZ	4150	broad.mit.edu	37	16	29820043	29820043	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:29820043C>T	uc002dty.2	+	4	1428	c.1260C>T	c.(1258-1260)GTC>GTT	p.V420V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.V397V|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Silent_p.V420V|MAZ_uc010bzg.2_Silent_p.V115V|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_Silent_p.V21V|MAZ_uc010vdy.1_Silent_p.V21V|uc002duc.1_RNA	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	420					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						CTCACCATGTCTGTGAGCTCT	0.602												
SEZ6L2	26470	broad.mit.edu	37	16	29888190	29888190	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:29888190C>T	uc002duq.3	-	12	2231	c.1991G>A	c.(1990-1992)CGG>CAG	p.R664Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R594Q|SEZ6L2_uc002dur.3_Missense_Mutation_p.R594Q|SEZ6L2_uc002dus.3_Missense_Mutation_p.R550Q|SEZ6L2_uc010vec.1_Missense_Mutation_p.R664Q|SEZ6L2_uc010ved.1_Missense_Mutation_p.R620Q	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	664	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CACCGTGCCCCGGATCAGGTC	0.687												
SRCAP	10847	broad.mit.edu	37	16	30749660	30749660	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30749660C>T	uc002dze.1	+	34	8684	c.8299C>T	c.(8299-8301)CGG>TGG	p.R2767W	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2562W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2767	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GGTGCGGCGGCGGCGGCAGCA	0.652												
BCL7C	9274	broad.mit.edu	37	16	30904250	30904250	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30904250C>T	uc002dzv.2	-	3	325	c.191G>A	c.(190-192)GGC>GAC	p.G64D	BCL7C_uc002dzt.1_Missense_Mutation_p.G64D|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	64					apoptosis						0			Colorectal(24;0.198)			CTCTGCCCCGCCACCTGCCCG	0.617												
PRSS36	146547	broad.mit.edu	37	16	31154711	31154711	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:31154711G>A	uc002ebd.2	-	8	1111	c.1052C>T	c.(1051-1053)GCG>GTG	p.A351V	PRSS36_uc010vff.1_Missense_Mutation_p.A126V|PRSS36_uc010vfg.1_Missense_Mutation_p.A351V|PRSS36_uc010vfh.1_Missense_Mutation_p.A351V	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	351	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AGACACCAGCGCCCCATGGCA	0.642												
VPS35	55737	broad.mit.edu	37	16	46715400	46715400	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:46715400G>A	uc002eef.3	-	4	311	c.212C>T	c.(211-213)TCT>TTT	p.S71F	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S32F	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	71					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGTTCATCAGAAATGGCCAT	0.363												
BRD7	29117	broad.mit.edu	37	16	50357571	50357571	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:50357571T>A	uc002egf.1	-	13	1437	c.1370A>T	c.(1369-1371)TAT>TTT	p.Y457F	BRD7_uc002ege.1_Missense_Mutation_p.Y457F	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	457					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TGCCATGACATACGGATAATC	0.443												
SALL1	6299	broad.mit.edu	37	16	51175249	51175249	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:51175249G>A	uc010vgs.1	-	2	915	c.884C>T	c.(883-885)GCA>GTA	p.A295V	SALL1_uc010vgr.1_Missense_Mutation_p.A198V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	295	Poly-Ala.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCAGCTGCTGCTGCCAGCTG	0.527												
IRX6	79190	broad.mit.edu	37	16	55363164	55363164	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55363164C>T	uc002ehy.2	+	5	1807	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	IRX6_uc002ehx.2_Missense_Mutation_p.A425V	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGAACTGTGCGCCGTGCCCG	0.617												
SLC6A2	6530	broad.mit.edu	37	16	55690817	55690817	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55690817G>A	uc002eif.2	+	2	322	c.211G>A	c.(211-213)GGC>AGC	p.G71S	SLC6A2_uc010ccd.2_Missense_Mutation_p.G71S|SLC6A2_uc002eig.2_Missense_Mutation_p.G71S|SLC6A2_uc002eih.2_Missense_Mutation_p.G71S	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	71	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCCGTAGTCGGCTTCGCAGT	0.672												
CDH8	1006	broad.mit.edu	37	16	61687979	61687979	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:61687979G>A	uc002eog.1	-	12	2185	c.1933C>T	c.(1933-1935)CGG>TGG	p.R645W		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	645	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGCCGCCGTAGAGTTACA	0.383												
CDH5	1003	broad.mit.edu	37	16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	rs147523967		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:66426078G>A	uc002eom.3	+	7	1165	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	337	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCTTCATCGTCGAGGCCAC	0.433												
B3GNT9	84752	broad.mit.edu	37	16	67183811	67183811	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67183811A>T	uc002erf.2	-	2	899	c.578T>A	c.(577-579)CTG>CAG	p.L193Q	uc002erg.1_Missense_Mutation_p.R72W	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	193	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						GGCCCAGAGCAGGATGTCCGC	0.642												
PLEKHG4	25894	broad.mit.edu	37	16	67322195	67322195	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67322195C>A	uc002eso.3	+	19	5881	c.3346C>A	c.(3346-3348)CTG>ATG	p.L1116M	PLEKHG4_uc002esp.3_Missense_Mutation_p.L923M|PLEKHG4_uc002esq.3_Missense_Mutation_p.L1116M|PLEKHG4_uc010cef.2_Missense_Mutation_p.L1116M|PLEKHG4_uc002ess.3_Missense_Mutation_p.L1116M|PLEKHG4_uc010ceg.2_Missense_Mutation_p.L1035M	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1116					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAACCTGCACCTGTACAGAGA	0.632												
TSNAXIP1	55815	broad.mit.edu	37	16	67859956	67859956	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67859956G>A	uc002euj.2	+	9	1353	c.959G>A	c.(958-960)CGG>CAG	p.R320Q	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R197Q|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R374Q|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R305Q|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R28Q	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	320					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCCACGCCGCGGCCTGACTGG	0.607												
PLA2G15	23659	broad.mit.edu	37	16	68289275	68289275	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68289275G>A	uc002evr.2	+	4	577	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	PLA2G15_uc010vld.1_Missense_Mutation_p.R165Q|PLA2G15_uc010vle.1_Missense_Mutation_p.E113K|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	165					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GACTGGCGCCGAGCCCCAAGT	0.612												
ZFP90	146198	broad.mit.edu	37	16	68597365	68597365	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68597365G>T	uc010cff.2	+	5	967	c.675G>T	c.(673-675)TCG>TCT	p.S225S	ZFP90_uc002ewb.2_Missense_Mutation_p.R31L|ZFP90_uc002ewc.2_Missense_Mutation_p.R31L|ZFP90_uc002ewd.2_Silent_p.S225S|ZFP90_uc002ewe.2_Silent_p.S225S	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	225	C2H2-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATAGATCATCGCTTACTAAAC	0.348												
CDH3	1001	broad.mit.edu	37	16	68732231	68732231	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68732231C>T	uc002ewf.2	+	16	3550	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	CDH3_uc010vli.1_Silent_p.Y751Y	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	806	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACCAAGATTACGATTATCTGA	0.632												
TMED6	146456	broad.mit.edu	37	16	69377541	69377541	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:69377541G>A	uc002exc.1	-	4	525	c.492C>T	c.(490-492)GAC>GAT	p.D164D		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	164	Lumenal (Potential).				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						TTTGTGTGCCGTCCTATGAGA	0.428												
DDX19A	55308	broad.mit.edu	37	16	70400155	70400155	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:70400155C>T	uc002eyv.2	+	8	843	c.772C>T	c.(772-774)CGC>TGC	p.R258C	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.R259C|DDX19A_uc010cfq.1_Missense_Mutation_p.R13C|DDX19A_uc010cfr.2_Missense_Mutation_p.R108C|DDX19A_uc010cfs.2_Missense_Mutation_p.R81C|DDX19A_uc010vlz.1_Missense_Mutation_p.R227C|DDX19A_uc010vma.1_Missense_Mutation_p.R168C	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	258	Helicase ATP-binding.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				TCAGAGCATCCGCATCCAGAG	0.537												
HYDIN	54768	broad.mit.edu	37	16	70917932	70917932	+	Silent	SNP	G	G	A	rs141625832	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:70917932G>A	uc002ezr.2	-	59	9995	c.9867C>T	c.(9865-9867)GAC>GAT	p.D3289D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3290										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCCCATGGCGTCAGCCACAC	0.567												
HYDIN	54768	broad.mit.edu	37	16	71163613	71163613	+	Missense_Mutation	SNP	G	G	A	rs150136432	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:71163613G>A	uc002ezr.2	-	9	1285	c.1157C>T	c.(1156-1158)GCG>GTG	p.A386V	HYDIN_uc010cfz.1_Missense_Mutation_p.A131V|HYDIN_uc002ezv.2_Missense_Mutation_p.A386V|HYDIN_uc010vmc.1_Missense_Mutation_p.A403V|HYDIN_uc010vmd.1_Missense_Mutation_p.A413V|HYDIN_uc002ezw.3_Missense_Mutation_p.A403V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	386										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTCTGATTCGCAAAGGTTCG	0.448												
PHLPP2	23035	broad.mit.edu	37	16	71683907	71683907	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:71683907A>C	uc002fax.2	-	18	2864	c.2858T>G	c.(2857-2859)CTG>CGG	p.L953R	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.L886R	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	953	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TGTACAGCCCAGCATCCGGGT	0.483												
ZFHX3	463	broad.mit.edu	37	16	72993370	72993370	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:72993370G>A	uc002fck.2	-	2	1348	c.675C>T	c.(673-675)AGC>AGT	p.S225S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	225					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCAGGACGGGGCTGAGCCCCG	0.557												
CHST6	4166	broad.mit.edu	37	16	75513508	75513508	+	Silent	SNP	C	C	T	rs140123684		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:75513508C>T	uc002fef.2	-	3	399	c.219G>A	c.(217-219)GCG>GCA	p.A73A	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A73A	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	73	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACACGTGCCACGCGGGCTCCA	0.657												
ADAMTS18	170692	broad.mit.edu	37	16	77401409	77401409	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:77401409G>T	uc002ffc.3	-	4	1126	c.707C>A	c.(706-708)TCT>TAT	p.S236Y	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCGACTCTGAGATGCATGGGG	0.478												
PLCG2	5336	broad.mit.edu	37	16	81944273	81944273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:81944273G>A	uc002fgt.2	+	18	2034	c.1882G>A	c.(1882-1884)GAG>AAG	p.E628K	PLCG2_uc010chg.1_Missense_Mutation_p.E628K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	628	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CGCCGAGTTCGAGCTGCGGCT	0.627												
MBTPS1	8720	broad.mit.edu	37	16	84096957	84096957	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84096957A>G	uc002fhi.2	-	19	3027	c.2525T>C	c.(2524-2526)GTA>GCA	p.V842A	MBTPS1_uc002fhh.2_Missense_Mutation_p.V346A	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	842	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCCATACAGTACAATCCGGCC	0.478											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNG4	93107	broad.mit.edu	37	16	84256395	84256395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84256395C>A	uc010voc.1	-	3	1109	c.988G>T	c.(988-990)GAG>TAG	p.E330*		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	330						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CCCACCTTCTCCAGGTAGGAG	0.677												
CRISPLD2	83716	broad.mit.edu	37	16	84940242	84940242	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84940242G>A	uc010voh.1	+	15	1715	c.1488G>A	c.(1486-1488)AGG>AGA	p.R496R	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.R495R	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	496						extracellular region|transport vesicle					0						TTGCTGTCAGGCAGTGAATTT	0.517												
ZCCHC14	23174	broad.mit.edu	37	16	87445308	87445308	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:87445308A>G	uc002fjz.1	-	12	2635	c.2608T>C	c.(2608-2610)TTT>CTT	p.F870L	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.F646L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	870					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGCACGGCAAACGTGGACTGC	0.632												
ZNF778	197320	broad.mit.edu	37	16	89291990	89291990	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:89291990C>T	uc002fmv.2	+	5	611	c.272C>T	c.(271-273)GCA>GTA	p.A91V	ZNF778_uc010vpf.1_RNA|ZNF778_uc002fmw.1_Missense_Mutation_p.A49V|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	91	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AAAGGGCCAGCACTTCGGCAG	0.363												
TUBB3	10381	broad.mit.edu	37	16	90002143	90002143	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:90002143C>T	uc002fph.1	+	4	1349	c.1284C>T	c.(1282-1284)GCC>GCT	p.A428A	TUBB3_uc002fpf.2_Silent_p.A775A|TUBB3_uc010ciz.1_Silent_p.A356A|TUBB3_uc002fpg.1_Silent_p.A282A|TUBB3_uc002fpi.1_Silent_p.A356A|TUBB3_uc002fpj.1_Silent_p.A356A|TUBB3_uc010cjb.1_Silent_p.A282A|TUBB3_uc002fpk.1_Silent_p.A282A	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	428					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACCAGGACGCCACGGCCGAGG	0.632												
ABR	29	broad.mit.edu	37	17	970393	970393	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:970393A>G	uc002fsd.2	-	10	1216	c.1106T>C	c.(1105-1107)GTG>GCG	p.V369A	ABR_uc002fse.2_Missense_Mutation_p.V323A|ABR_uc010vqg.1_Missense_Mutation_p.V151A|ABR_uc002fsg.2_Missense_Mutation_p.V332A|ABR_uc002fsh.1_Missense_Mutation_p.V253A	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	369	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAAGGGGTGCACCTGGGGGCT	0.567												
PITPNA	5306	broad.mit.edu	37	17	1456410	1456410	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:1456410C>T	uc002fst.3	-	3	341	c.85G>A	c.(85-87)GCC>ACC	p.A29T	PITPNA_uc010cjt.2_5'UTR|PITPNA_uc010cju.2_5'UTR|PITPNA_uc010vqn.1_RNA	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	29					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTTTACTGGCCTCAGCCACA	0.507												
KIAA0664	23277	broad.mit.edu	37	17	2595920	2595920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:2595920C>T	uc002fuy.1	-	21	3352	c.3266G>A	c.(3265-3267)CGC>CAC	p.R1089H	KIAA0664_uc002fux.1_Missense_Mutation_p.R1022H|KIAA0664_uc010ckc.1_Missense_Mutation_p.R75H	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1089							binding			breast(2)	2						CATGAGGTAGCGGGCGCGGTA	0.701												
OR1A1	8383	broad.mit.edu	37	17	3119822	3119822	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:3119822T>C	uc010vrc.1	+	1	908	c.908T>C	c.(907-909)TTC>TCC	p.F303S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CGGAAACTCTTCAACAAGAGA	0.413												
ATP2A3	489	broad.mit.edu	37	17	3846007	3846007	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:3846007G>A	uc002fxb.1	-	12	1589	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	ATP2A3_uc002fwx.1_Missense_Mutation_p.R480W|ATP2A3_uc002fwy.1_Missense_Mutation_p.R480W|ATP2A3_uc002fwz.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxa.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxc.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxd.1_Missense_Mutation_p.R480W	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	480	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AACTCCTTCCGCATCAGCTGC	0.617												
ANKFY1	51479	broad.mit.edu	37	17	4086805	4086805	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4086805C>T	uc002fxq.1	-	14	1878	c.1840G>A	c.(1840-1842)GCC>ACC	p.A614T	ANKFY1_uc002fxn.2_Missense_Mutation_p.A656T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A614T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A613T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A555T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	614	ANK 8.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCATTGATGGCGGCTCCAGAG	0.597												
MYBBP1A	10514	broad.mit.edu	37	17	4451551	4451551	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4451551A>G	uc002fyb.3	-	12	1673	c.1611T>C	c.(1609-1611)GGT>GGC	p.G537G	MYBBP1A_uc002fxz.3_Silent_p.G537G	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	537	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						AGGGCTGCCCACCCTGGGTCT	0.622												
PLD2	5338	broad.mit.edu	37	17	4722789	4722789	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4722789G>A	uc002fzc.2	+	23	2475	c.2374G>A	c.(2374-2376)GAG>AAG	p.E792K	PLD2_uc002fzd.2_Missense_Mutation_p.E792K	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	792					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CGTGCTGATCGAGGACACAGA	0.607												
ENO3	2027	broad.mit.edu	37	17	4856581	4856581	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4856581G>A	uc002gab.3	+	5	349	c.255G>A	c.(253-255)GCG>GCA	p.A85A	ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Silent_p.A85A|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	85					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TAAGCGTTGTGGATCAAGAAA	0.478												
CAMTA2	23125	broad.mit.edu	37	17	4876881	4876881	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4876881G>A	uc002gah.1	-	13	2308	c.2200C>T	c.(2200-2202)CGG>TGG	p.R734W	CAMTA2_uc010cku.1_Missense_Mutation_p.R757W|CAMTA2_uc002gag.1_Missense_Mutation_p.R733W|CAMTA2_uc002gai.1_Missense_Mutation_p.R736W|CAMTA2_uc010ckv.1_Missense_Mutation_p.R381W	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	734	ANK 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						CTTGCTCACCGCCACTGGCTC	0.647												
KIF1C	10749	broad.mit.edu	37	17	4906103	4906103	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4906103G>T	uc002gan.1	+	8	1012	c.686G>T	c.(685-687)TGC>TTC	p.C229F		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	229	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						ACACAGCGCTGCCATGACCAG	0.607												
PITPNM3	83394	broad.mit.edu	37	17	6374548	6374548	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:6374548G>A	uc002gdd.3	-	12	1708	c.1557C>T	c.(1555-1557)AGC>AGT	p.S519S	PITPNM3_uc010cln.2_Silent_p.S483S|PITPNM3_uc010clm.2_Silent_p.S2S|PITPNM3_uc002gdc.3_Silent_p.S110S	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	519	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGCTCCCCTCGCTCATCCTCC	0.687												
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; 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.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)		
DNAH2	146754	broad.mit.edu	37	17	7671512	7671512	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:7671512C>T	uc002giu.1	+	23	3882	c.3868C>T	c.(3868-3870)CGC>TGC	p.R1290C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1290	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAAACCACTCGCTCAAAAAT	0.552												
PER1	5187	broad.mit.edu	37	17	8052938	8052938	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:8052938A>G	uc002gkd.2	-	6	933	c.695T>C	c.(694-696)GTC>GCC	p.V232A	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.V216A|PER1_uc010vus.1_Missense_Mutation_p.V232A	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	232	PAS 1.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CGAAATGTAGACGATTCGGCC	0.612			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
MYH13	8735	broad.mit.edu	37	17	10214487	10214487	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10214487G>A	uc002gmk.1	-	33	4679	c.4589C>T	c.(4588-4590)GCG>GTG	p.A1530V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1530	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGTCTTTTCCGCTTCCTGAAG	0.448												
MYH8	4626	broad.mit.edu	37	17	10309612	10309612	+	Silent	SNP	T	T	C	rs145901155	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10309612T>C	uc002gmm.2	-	20	2369	c.2274A>G	c.(2272-2274)CAA>CAG	p.Q758Q	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	758	Myosin head-like.				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						CAAATTTATATTGAGTATGAT	0.373									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH2	4620	broad.mit.edu	37	17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10427956G>A	uc010coi.2	-	35	5130	c.5002C>T	c.(5002-5004)CGG>TGG	p.R1668W	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1668W|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1668	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCCTGGCTCCGGAGAGCATCA	0.572												
MYH3	4621	broad.mit.edu	37	17	10535238	10535238	+	Silent	SNP	G	G	A	rs149260479		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10535238G>A	uc002gmq.1	-	34	5129	c.5052C>T	c.(5050-5052)GCC>GCT	p.A1684A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1684	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTCCACCTCGGCCTGCAGCA	0.657												
SCO1	6341	broad.mit.edu	37	17	10600694	10600694	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10600694A>T	uc002gmr.3	-	1	192	c.131T>A	c.(130-132)TTC>TAC	p.F44Y	SCO1_uc002gms.3_Missense_Mutation_p.F44Y|C17orf48_uc002gmt.2_5'Flank|C17orf48_uc002gmu.2_5'Flank|C17orf48_uc002gmv.2_5'Flank	NM_004589	NP_004580	O75880	SCO1_HUMAN	cytochrome oxidase deficient homolog 1	44					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				0						CCGCGCGCAGAACTGCCTCAG	0.697												
CDRT4	284040	broad.mit.edu	37	17	15341260	15341260	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:15341260A>T	uc002gop.1	-	4	567	c.286T>A	c.(286-288)TCC>ACC	p.S96T	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	96											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GATAACGTGGATTCTGACAGC	0.507												
PIGL	9487	broad.mit.edu	37	17	16221154	16221154	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:16221154C>T	uc002gpv.2	+	6	624	c.592C>T	c.(592-594)CCC>TCC	p.P198S		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	198	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTGGATCTGCCCTTGTCTCT	0.527												
MPRIP	23164	broad.mit.edu	37	17	17062044	17062044	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17062044C>T	uc002gqu.1	+	14	1830	c.1774C>T	c.(1774-1776)CGC>TGC	p.R592C	MPRIP_uc002gqv.1_Missense_Mutation_p.R592C|MPRIP_uc002gqw.1_Missense_Mutation_p.R347C	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	592	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GCGGGAGGAGCGCCGCAAGCG	0.736												
TOM1L2	146691	broad.mit.edu	37	17	17772673	17772673	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17772673C>T	uc002grz.3	-	8	1049	c.892G>A	c.(892-894)GTC>ATC	p.V298I	TOM1L2_uc002gry.3_Missense_Mutation_p.V248I|TOM1L2_uc010vwy.1_Missense_Mutation_p.V245I|TOM1L2_uc010cpr.2_Missense_Mutation_p.V253I|TOM1L2_uc010vwz.1_Missense_Mutation_p.V150I|TOM1L2_uc010vxa.1_Missense_Mutation_p.V200I|TOM1L2_uc010vxb.1_Missense_Mutation_p.V248I|TOM1L2_uc002grv.3_Missense_Mutation_p.V31I	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	298	GAT.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					CGAAGGAAGACGTTGTTGAGG	0.488												
LRRC48	83450	broad.mit.edu	37	17	17900948	17900948	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17900948G>A	uc010vxd.1	+	10	1378	c.999G>A	c.(997-999)TCG>TCA	p.S333S	LRRC48_uc002gsa.2_Silent_p.S333S|LRRC48_uc010vxc.1_Silent_p.S333S|LRRC48_uc002gsb.2_Silent_p.S333S|LRRC48_uc010vxe.1_RNA	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	333						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					AGCACTTGTCGGTAGGCCCCG	0.587												
MYO15A	51168	broad.mit.edu	37	17	18023744	18023744	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:18023744C>T	uc010vxh.1	+	2	1968	c.1630C>T	c.(1630-1632)CGC>TGC	p.R544C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	544	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAACCTCCAGCGCGCGCTGTC	0.716												
AKAP10	11216	broad.mit.edu	37	17	19827816	19827816	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:19827816T>C	uc002gwo.2	-	11	1793	c.1656A>G	c.(1654-1656)AAA>AAG	p.K552K	AKAP10_uc002gwp.1_Silent_p.K552K|AKAP10_uc010cqw.1_Silent_p.K494K	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	552					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAATACTGGCTTTTTTCACAC	0.348												
SLC13A2	9058	broad.mit.edu	37	17	26817568	26817568	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:26817568G>A	uc002hbh.2	+	3	395	c.328G>A	c.(328-330)GCC>ACC	p.A110T	SLC13A2_uc010wal.1_Missense_Mutation_p.A67T|SLC13A2_uc010wam.1_Missense_Mutation_p.A66T|SLC13A2_uc010wan.1_Missense_Mutation_p.A159T|SLC13A2_uc010wao.1_Missense_Mutation_p.A67T|SLC13A2_uc002hbi.2_Missense_Mutation_p.A39T	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	110						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAAACGCATCGCCCTCCGTGT	0.607												
KIAA0100	9703	broad.mit.edu	37	17	26942696	26942696	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:26942696C>T	uc002hbu.2	-	38	6610	c.6511G>A	c.(6511-6513)GCC>ACC	p.A2171T	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.A500T	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2171						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCAACCAGGGCTTTGCGGCTG	0.547												
CDK5R1	8851	broad.mit.edu	37	17	30814938	30814938	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:30814938G>A	uc002hhn.2	+	2	521	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q	CDK5R1_uc010wca.1_Silent_p.Q100Q|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	100					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CATTCGCCCAGCCCCCACCGG	0.642												
CCL11	6356	broad.mit.edu	37	17	32614701	32614701	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:32614701A>G	uc002hia.1	+	3	427	c.286A>G	c.(286-288)AAG>GAG	p.K96E		NM_002986	NP_002977	P51671	CCL11_HUMAN	small inducible cytokine A11 precursor	96					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity				0	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCAACTCCAAAGCCATAAAT	0.428												
SLFN11	91607	broad.mit.edu	37	17	33690471	33690471	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:33690471C>T	uc010ctp.2	-	4	798	c.356G>A	c.(355-357)CGC>CAC	p.R119H	SLFN11_uc010ctq.2_Missense_Mutation_p.R119H|SLFN11_uc002hjh.3_Missense_Mutation_p.R119H|SLFN11_uc002hjg.3_Missense_Mutation_p.R119H|SLFN11_uc010ctr.2_Missense_Mutation_p.R119H	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	119						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGACAGAGCGATCTTCAGG	0.473												
MYO19	80179	broad.mit.edu	37	17	34856778	34856778	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:34856778G>A	uc010wcy.1	-	24	3261	c.2269C>T	c.(2269-2271)CGT>TGT	p.R757C	MYO19_uc002hmw.2_Missense_Mutation_p.R557C|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	757						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCCGGGCACGCCCACATTCC	0.662												
GGNBP2	79893	broad.mit.edu	37	17	34943636	34943636	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:34943636C>T	uc002hnb.2	+	13	2100	c.1851C>T	c.(1849-1851)CCC>CCT	p.P617P		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	617					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTTTGGTCCCGATTCCGGAA	0.478												
ACACA	31	broad.mit.edu	37	17	35445936	35445936	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35445936T>C	uc002hnm.2	-	55	7045	c.6854A>G	c.(6853-6855)CAC>CGC	p.H2285R	ACACA_uc002hnk.2_Missense_Mutation_p.H2207R|ACACA_uc002hnl.2_Missense_Mutation_p.H2227R|ACACA_uc002hnn.2_Missense_Mutation_p.H2285R|ACACA_uc002hno.2_Missense_Mutation_p.H2322R|ACACA_uc010cuy.2_Missense_Mutation_p.H930R|ACACA_uc010wdb.1_Missense_Mutation_p.H323R|ACACA_uc010wdc.1_Missense_Mutation_p.H411R	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2285					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTACCGAGTGAACACCATC	0.483												
ACACA	31	broad.mit.edu	37	17	35583264	35583264	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35583264C>T	uc002hnm.2	-	26	3436	c.3245G>A	c.(3244-3246)CGC>CAC	p.R1082H	ACACA_uc002hnk.2_Missense_Mutation_p.R1004H|ACACA_uc002hnl.2_Missense_Mutation_p.R1024H|ACACA_uc002hnn.2_Missense_Mutation_p.R1082H|ACACA_uc002hno.2_Missense_Mutation_p.R1119H|ACACA_uc010cuz.2_Missense_Mutation_p.R1082H	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1082					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTTACCTGGCGTGCTCGAAG	0.448												
ACACA	31	broad.mit.edu	37	17	35591892	35591892	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35591892T>C	uc002hnm.2	-	25	3324	c.3133A>G	c.(3133-3135)ATT>GTT	p.I1045V	ACACA_uc002hnk.2_Missense_Mutation_p.I967V|ACACA_uc002hnl.2_Missense_Mutation_p.I987V|ACACA_uc002hnn.2_Missense_Mutation_p.I1045V|ACACA_uc002hno.2_Missense_Mutation_p.I1082V|ACACA_uc010cuz.2_Missense_Mutation_p.I1045V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1045					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTACTCACAATAAGCATTGTG	0.388												
GPR179	440435	broad.mit.edu	37	17	36482648	36482648	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:36482648G>A	uc002hpz.2	-	11	6825	c.6804C>T	c.(6802-6804)CCC>CCT	p.P2268P		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGAGCTGTGGGGAAAAATT	0.522												
PSMB3	5691	broad.mit.edu	37	17	36912143	36912143	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:36912143C>T	uc002hqr.2	+	3	274	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_002795	NP_002786	P49720	PSB3_HUMAN	proteasome beta 3 subunit	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity				0						CAGTGCCCAGCGCCTCAAGTT	0.468												
SMARCE1	6605	broad.mit.edu	37	17	38792665	38792665	+	Silent	SNP	G	G	A	rs149613910	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38792665G>A	uc002hux.2	-	6	475	c.351C>T	c.(349-351)AAC>AAT	p.N117N	SMARCE1_uc010wff.1_Silent_p.N82N|SMARCE1_uc010wfg.1_Silent_p.N47N|SMARCE1_uc002huy.2_Silent_p.N82N|SMARCE1_uc010wfh.1_Silent_p.N47N|SMARCE1_uc010wfi.1_Silent_p.N99N|SMARCE1_uc002huz.1_Silent_p.N82N|SMARCE1_uc010wfj.1_Silent_p.N99N	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	117	HMG box.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				CTTCGTATTCGTTTAAATATT	0.378												
KRT27	342574	broad.mit.edu	37	17	38936701	38936701	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38936701T>C	uc002hvg.2	-	3	576	c.535A>G	c.(535-537)AAC>GAC	p.N179D		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	179	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				GCTAGCTCGTTTTCAAACCTT	0.448												
KRT28	162605	broad.mit.edu	37	17	38955765	38955765	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38955765A>G	uc002hvh.1	-	1	447	c.381T>C	c.(379-381)CCT>CCC	p.P127P		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	127	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GGCAAGATCCAGGTCCGTATT	0.423												
KRT12	3859	broad.mit.edu	37	17	39020028	39020028	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:39020028T>A	uc002hvk.2	-	4	920	c.896A>T	c.(895-897)AAT>ATT	p.N299I		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	299	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCGCATATCATTGAGGAGCCT	0.562												
CNTNAP1	8506	broad.mit.edu	37	17	40843980	40843980	+	Missense_Mutation	SNP	G	G	A	rs142029931	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40843980G>A	uc002iay.2	+	16	2717	c.2501G>A	c.(2500-2502)CGC>CAC	p.R834H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	834	Laminin G-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCAGTGGCGCCGACCTTAT	0.602												
WNK4	65266	broad.mit.edu	37	17	40936583	40936583	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40936583C>T	uc002ibj.2	+	4	1177	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	WNK4_uc010wgx.1_Silent_p.T79T|WNK4_uc002ibk.1_Missense_Mutation_p.R158C|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	386	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAAATCTACCGCAAGGTCAC	0.617												
G6PC	2538	broad.mit.edu	37	17	41063035	41063035	+	Silent	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:41063035A>T	uc002icb.1	+	5	745	c.666A>T	c.(664-666)GGA>GGT	p.G222G	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	222	Helical; (Potential).		G -> R (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCGCCATCGGATTTTATCTGC	0.493									Glycogen_Storage_Disease_type_Ia			
FZD2	2535	broad.mit.edu	37	17	42636437	42636437	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:42636437C>T	uc002igx.1	+	1	1513	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	461	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTCATGGTGCGCATCGGCGT	0.627												
PLEKHM1	9842	broad.mit.edu	37	17	43545801	43545801	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:43545801G>A	uc002ija.2	-	5	1252	c.1082C>T	c.(1081-1083)GCC>GTC	p.A361V	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A333V|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A310V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	361					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GGCTGCCTGGGCAGGAAGGGG	0.627												
NSF	4905	broad.mit.edu	37	17	44770370	44770370	+	Silent	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:44770370T>G	uc002iku.2	+	10	1151	c.1047T>G	c.(1045-1047)ACT>ACG	p.T349T	NSF_uc010wke.1_Silent_p.T255T|NSF_uc010wkf.1_Silent_p.T255T|NSF_uc010wkg.1_Silent_p.T344T	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	349					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCATGACACTGTTGTCAACC	0.418												
KPNB1	3837	broad.mit.edu	37	17	45748109	45748109	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:45748109C>T	uc002ilt.1	+	12	1794	c.1458C>T	c.(1456-1458)GAC>GAT	p.D486D	KPNB1_uc010wkw.1_Silent_p.D341D|KPNB1_uc010wkx.1_Silent_p.D270D	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	486					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAGCTGCAGACGTTGCTGATG	0.423												
RSAD1	55316	broad.mit.edu	37	17	48559584	48559584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:48559584C>T	uc002iqw.1	+	4	663	c.607C>T	c.(607-609)CAG>TAG	p.Q203*	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	203					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCTGCCGGCACAGCAGGTGGG	0.682											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MKS1	54903	broad.mit.edu	37	17	56291179	56291179	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56291179G>A	uc002ivr.1	-	7	771	c.696C>T	c.(694-696)AGC>AGT	p.S232S	MKS1_uc010wnq.1_Silent_p.S29S|MKS1_uc002ivs.1_Silent_p.S232S	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	232					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						TCACACCATTGCTATCCACCT	0.483												
HSF5	124535	broad.mit.edu	37	17	56536295	56536295	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56536295G>T	uc002iwi.1	-	5	1678	c.1554C>A	c.(1552-1554)AAC>AAA	p.N518K		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	518						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCATTTTATGTTGGCATCCA	0.388												
TEX14	56155	broad.mit.edu	37	17	56707884	56707884	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56707884G>A	uc010dcz.1	-	3	286	c.168C>T	c.(166-168)GGC>GGT	p.G56G	TEX14_uc002iwr.1_Silent_p.G56G|TEX14_uc002iws.1_Silent_p.G56G|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	56	ANK 2.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGCTGTTTGGCCCAAGGAGT	0.393												
PPM1E	22843	broad.mit.edu	37	17	57050270	57050270	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:57050270G>A	uc002iwx.2	+	6	1321	c.1194G>A	c.(1192-1194)TCG>TCA	p.S398S	PPM1E_uc010ddd.2_Silent_p.S161S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	407	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAGTCTGTCGGTTTCCAGAG	0.438												
BCAS3	54828	broad.mit.edu	37	17	58988001	58988001	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:58988001C>T	uc002iyv.3	+	12	1040	c.931C>T	c.(931-933)CGG>TGG	p.R311W	BCAS3_uc010wow.1_Missense_Mutation_p.R98W|BCAS3_uc002iyu.3_Missense_Mutation_p.R311W|BCAS3_uc002iyw.3_Missense_Mutation_p.R307W|BCAS3_uc002iyx.1_Missense_Mutation_p.R126W|BCAS3_uc002iyy.3_Missense_Mutation_p.R82W	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	311						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TAATTCACGGCGGAGTCCTTT	0.502												
TLK2	11011	broad.mit.edu	37	17	60558534	60558534	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:60558534G>A	uc010ddp.2	+	2	316	c.48G>A	c.(46-48)TTG>TTA	p.L16L	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.L16L|TLK2_uc002jaa.3_Silent_p.L16L|TLK2_uc010wpd.1_Silent_p.L16L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	16					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						AGGAATTATTGGAGGCCAGGT	0.358												
TLK2	11011	broad.mit.edu	37	17	60679539	60679539	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:60679539T>C	uc010ddp.2	+	20	2191	c.1923T>C	c.(1921-1923)TAT>TAC	p.Y641Y	TLK2_uc002izx.3_Silent_p.Y467Y|TLK2_uc002izz.3_Silent_p.Y619Y|TLK2_uc002jaa.3_Silent_p.Y587Y|TLK2_uc010wpd.1_Silent_p.Y587Y	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	641	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						CTGGTACTTATTGGTAGGTAT	0.413												
ACE	1636	broad.mit.edu	37	17	61557223	61557223	+	Missense_Mutation	SNP	C	C	T	rs148460287	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61557223C>T	uc002jau.1	+	4	627	c.605C>T	c.(604-606)CCG>CTG	p.P202L	ACE_uc010wpi.1_Missense_Mutation_p.P202L|ACE_uc010ddu.1_Missense_Mutation_p.P19L	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	202	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGCTGAAACCGCTGTACGAG	0.602												
KCNH6	81033	broad.mit.edu	37	17	61619795	61619795	+	Silent	SNP	C	C	T	rs75754003		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61619795C>T	uc002jay.2	+	9	2228	c.2148C>T	c.(2146-2148)GAC>GAT	p.D716D	KCNH6_uc010wpl.1_Silent_p.D593D|KCNH6_uc010wpm.1_Silent_p.D716D|KCNH6_uc002jaz.1_Silent_p.D663D	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	716	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	ACCTGCGGGACGTGAGTCAGG	0.617												
KCNH6	81033	broad.mit.edu	37	17	61620997	61620997	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61620997T>C	uc002jay.2	+	10	2289	c.2209T>C	c.(2209-2211)TTC>CTC	p.F737L	KCNH6_uc010wpl.1_Missense_Mutation_p.F614L|KCNH6_uc010wpm.1_Missense_Mutation_p.F737L|KCNH6_uc002jaz.1_Missense_Mutation_p.F684L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	737	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CCACCAAGGTTTCTTTCTCAG	0.602												
SCN4A	6329	broad.mit.edu	37	17	62025282	62025282	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:62025282C>T	uc002jds.1	-	17	3363	c.3286G>A	c.(3286-3288)GCC>ACC	p.A1096T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1096	III.|Helical; Name=S3 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CAGCACCAGGCGTTGGTGAAG	0.562												
TEX2	55852	broad.mit.edu	37	17	62291193	62291193	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:62291193T>C	uc002jec.2	-	2	558	c.385A>G	c.(385-387)ACA>GCA	p.T129A	TEX2_uc002jed.2_Missense_Mutation_p.T129A|TEX2_uc002jee.2_Missense_Mutation_p.T129A	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	129					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AATGGCACTGTACTTAATACT	0.547												
AXIN2	8313	broad.mit.edu	37	17	63554010	63554010	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:63554010A>G	uc002jfi.2	-	2	1018	c.729T>C	c.(727-729)CTT>CTC	p.L243L	AXIN2_uc010den.1_Silent_p.L243L|AXIN2_uc002jfh.2_Silent_p.L243L|AXIN2_uc002jfj.1_Silent_p.L243L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	243					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CGGTTGGCGAAAGTTTGCACT	0.532									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
KCNJ2	3759	broad.mit.edu	37	17	68171571	68171571	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:68171571G>A	uc010dfg.2	+	2	792	c.391G>A	c.(391-393)GCT>ACT	p.A131T	KCNJ2_uc002jir.2_Missense_Mutation_p.A131T	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	131					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CAGCTTCACGGCTGCCTTCCT	0.498												
TTYH2	94015	broad.mit.edu	37	17	72227069	72227069	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:72227069C>T	uc002jkc.2	+	3	376	c.345C>T	c.(343-345)AAC>AAT	p.N115N	TTYH2_uc010wqw.1_Silent_p.N94N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	115	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						GCGAGACCAACGATGGGGCGT	0.542												
SLC25A19	60386	broad.mit.edu	37	17	73282486	73282486	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:73282486G>A	uc002jns.3	-	2	1097	c.187C>T	c.(187-189)CTC>TTC	p.L63F	SLC25A19_uc010dge.2_Missense_Mutation_p.L63F|SLC25A19_uc002jnv.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnu.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnw.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnt.3_Missense_Mutation_p.L63F	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	63	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GAGGCCTGGAGGATGCCATGG	0.547												
TNRC6C	57690	broad.mit.edu	37	17	76046405	76046405	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:76046405G>T	uc002jud.2	+	4	1862	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	TNRC6C_uc002juf.2_Missense_Mutation_p.R421M|TNRC6C_uc002jue.2_Missense_Mutation_p.R421M	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	421	Sufficient for interaction with argonaute family proteins.|Gly-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAAGGCCGAAGGCGAGATAAA	0.502												
DNAH17	8632	broad.mit.edu	37	17	76557880	76557880	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:76557880G>A	uc002jvv.1	-	8	964	c.858C>T	c.(856-858)CCC>CCT	p.P286P						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577												
GAA	2548	broad.mit.edu	37	17	78090907	78090907	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78090907C>T	uc002jxo.2	+	17	2512	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	GAA_uc002jxp.2_Missense_Mutation_p.T777M|GAA_uc002jxq.2_Missense_Mutation_p.T777M	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	777					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GACCTGCAGACGGTGAGTCTG	0.662												
RNF213	57674	broad.mit.edu	37	17	78351588	78351588	+	Missense_Mutation	SNP	G	G	A	rs148541222	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78351588G>A	uc002jyh.1	+	29	7979	c.7756G>A	c.(7756-7758)GTG>ATG	p.V2586M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.V968M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTTGCTCCGTGGGAGAGGT	0.537												
RNF213	57674	broad.mit.edu	37	17	78356807	78356807	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78356807A>G	uc002jyh.1	+	33	8449	c.8226A>G	c.(8224-8226)TCA>TCG	p.S2742S	uc002jyi.1_Intron|RNF213_uc010dhw.1_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAATTGTCAACTAAAGAAA	0.428												
RNF213	57674	broad.mit.edu	37	17	78363150	78363150	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78363150A>G	uc002jyh.1	+	40	9620	c.9397A>G	c.(9397-9399)ACG>GCG	p.T3133A	uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.T77A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGTGATCAGACGATTCACGT	0.522												
GPS1	2873	broad.mit.edu	37	17	80014934	80014934	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80014934G>A	uc002kdl.1	+	13	1452	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	GPS1_uc002kdk.1_Silent_p.P505P|GPS1_uc010dij.1_Silent_p.P504P|GPS1_uc002kdm.1_Silent_p.P449P|GPS1_uc002kdn.1_Silent_p.P465P|GPS1_uc002kdo.1_Silent_p.P468P|GPS1_uc010wvh.1_Silent_p.P461P	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	469					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCAGTCCCCGCCCAGAGAAG	0.652												
FASN	2194	broad.mit.edu	37	17	80039558	80039558	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80039558A>G	uc002kdu.2	-	37	6442	c.6325T>C	c.(6325-6327)TTT>CTT	p.F2109L	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2109	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCCAGCACAAAGCTGCTCAGG	0.642												
ZNF750	79755	broad.mit.edu	37	17	80789385	80789385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80789385G>A	uc002kga.2	-	2	1257	c.946C>T	c.(946-948)CCG>TCG	p.P316S	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	316						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAAGGAATCGGCAGGTTAGAG	0.542												
COLEC12	81035	broad.mit.edu	37	18	335158	335158	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:335158C>T	uc002kkm.2	-	6	1615	c.1400G>A	c.(1399-1401)GGA>GAA	p.G467E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	467	Collagen-like 1.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTTTCTGTCCCTTGTTGCC	0.622												
MYOM1	8736	broad.mit.edu	37	18	3187584	3187584	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:3187584G>A	uc002klp.2	-	5	1157	c.823C>T	c.(823-825)CAT>TAT	p.H275Y	MYOM1_uc002klq.2_Missense_Mutation_p.H275Y	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	275						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TCAGGAGCATGGAGAAGATGG	0.403												
TUBB6	84617	broad.mit.edu	37	18	12325459	12325459	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:12325459A>T	uc002kqw.2	+	4	716	c.671A>T	c.(670-672)GAC>GTC	p.D224V	TUBB6_uc002kqv.2_Missense_Mutation_p.D152V|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.D187V|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	224					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		ACCTACGGGGACCTCAACCAC	0.607												
ABHD3	171586	broad.mit.edu	37	18	19282375	19282375	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:19282375G>A	uc002ktl.2	-	3	551	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ABHD3_uc002ktm.2_Silent_p.S137S|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Silent_p.S137S	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	137						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						TAGGTCTGGTGCTGGCATCCA	0.398												
MIB1	57534	broad.mit.edu	37	18	19395628	19395628	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:19395628G>A	uc002ktq.2	+	11	1531	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	MIB1_uc002ktp.2_Missense_Mutation_p.A150T	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	511	ANK 3.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			AGATGAAGGCGCTGTTATAGA	0.378												
RBBP8	5932	broad.mit.edu	37	18	20573294	20573294	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:20573294C>T	uc002ktw.2	+	11	1835	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	RBBP8_uc002kty.2_Missense_Mutation_p.R502C|RBBP8_uc002ktz.2_Missense_Mutation_p.R502C|RBBP8_uc002kua.2_Missense_Mutation_p.R502C|RBBP8_uc002ktx.1_Missense_Mutation_p.R502C	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	502					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCTATTCAGCGTCAAGAGAA	0.398								Direct_reversal_of_damage|Homologous_recombination				
ZNF521	25925	broad.mit.edu	37	18	22804681	22804681	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:22804681G>A	uc002kvk.2	-	4	3448	c.3201C>T	c.(3199-3201)TGC>TGT	p.C1067C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C1067C|ZNF521_uc002kvl.2_Silent_p.C847C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1067	C2H2-type 25; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCAAGATGCGCACTTATACA	0.498			T	PAX5	ALL							
DSG2	1829	broad.mit.edu	37	18	29111033	29111033	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:29111033T>C	uc002kwu.3	+	9	1286	c.1098T>C	c.(1096-1098)AGT>AGC	p.S366S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	366	Extracellular (Potential).|Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGATTAGGAGTAAATACAAGC	0.363												
ELP2	55250	broad.mit.edu	37	18	33718382	33718382	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:33718382T>C	uc002kzk.1	+	4	448	c.438T>C	c.(436-438)GGT>GGC	p.G146G	ELP2_uc010xcg.1_Silent_p.G146G|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.G146G|ELP2_uc010xch.1_Silent_p.G146G|ELP2_uc002kzn.1_Silent_p.G146G|ELP2_uc002kzo.1_Silent_p.G146G	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	146	WD 3.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CTAAAAAGGGTCCAGAAGGTA	0.383												
SETBP1	26040	broad.mit.edu	37	18	42281711	42281711	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:42281711A>G	uc010dni.2	+	2	696	c.400A>G	c.(400-402)AAG>GAG	p.K134E	SETBP1_uc002lay.2_Missense_Mutation_p.K134E	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	134						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCACCATCAAGCAGTCTGG	0.473									Schinzel-Giedion_syndrome			
SETBP1	26040	broad.mit.edu	37	18	42532057	42532057	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:42532057C>T	uc010dni.2	+	4	3048	c.2752C>T	c.(2752-2754)CGG>TGG	p.R918W		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	918						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCATGGCCACCGGCAAAAGCA	0.537									Schinzel-Giedion_syndrome			
SIGLEC15	284266	broad.mit.edu	37	18	43418864	43418864	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:43418864G>A	uc002lbl.1	+	4	827	c.678G>A	c.(676-678)CTG>CTA	p.L226L	SIGLEC15_uc010xcp.1_RNA	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	226	Extracellular (Potential).|Ig-like C2-type.					integral to membrane					0						CCGCCGAACTGCCCGCACTGA	0.731												
MYO5B	4645	broad.mit.edu	37	18	47438517	47438517	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47438517C>T	uc002leb.2	-	18	2405	c.2117G>A	c.(2116-2118)CGG>CAG	p.R706Q		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	706	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CACCCGATACCGGTTGAAAAA	0.557												
CCDC11	220136	broad.mit.edu	37	18	47788456	47788456	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47788456T>C	uc002lee.2	-	2	294	c.203A>G	c.(202-204)CAG>CGG	p.Q68R		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	68										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTCATTGTGCTGGTCCCACTC	0.438												
CXXC1	30827	broad.mit.edu	37	18	47812478	47812478	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47812478C>A	uc002leq.3	-	4	1106	c.373G>T	c.(373-375)GGG>TGG	p.G125W	CXXC1_uc002lep.3_Translation_Start_Site|CXXC1_uc002ler.3_Missense_Mutation_p.G125W|CXXC1_uc010doy.2_Missense_Mutation_p.G125W|CXXC1_uc002les.2_Missense_Mutation_p.G125W	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	125					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACCCCTGTCCCTGACCCTGCC	0.677												
DCC	1630	broad.mit.edu	37	18	50976988	50976988	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:50976988C>T	uc002lfe.1	+	23	3935	c.3348C>T	c.(3346-3348)ATC>ATT	p.I1116I	DCC_uc010dpf.1_Silent_p.I751I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1116	Helical; (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGTGGTCATCGTGGCTGTGA	0.512												
C18orf26	284254	broad.mit.edu	37	18	52262284	52262284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:52262284G>T	uc002lfq.1	+	2	296	c.250G>T	c.(250-252)GGA>TGA	p.G84*	C18orf26_uc002lfp.1_Intron	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	84						integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CGTGAACCCAGGAATCCTTGC	0.443												
TCF4	6925	broad.mit.edu	37	18	52899750	52899750	+	Splice_Site	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:52899750A>T	uc002lfz.2	-	17	2249	c.1637_splice	c.e17+1	p.S546_splice	TCF4_uc002lfw.3_Missense_Mutation_p.S387T|TCF4_uc010xdu.1_Splice_Site_p.S416_splice|TCF4_uc010xdv.1_Splice_Site_p.S416_splice|TCF4_uc002lfx.2_Missense_Mutation_p.S476T|TCF4_uc010xdw.1_Splice_Site_p.S416_splice|TCF4_uc002lfy.2_Splice_Site_p.S504_splice|TCF4_uc010xdx.1_Splice_Site_p.S522_splice|TCF4_uc010dph.1_Missense_Mutation_p.S547T|TCF4_uc010xdy.1_Missense_Mutation_p.S523T|TCF4_uc002lga.2_Missense_Mutation_p.S649T|TCF4_uc002lgb.1_Splice_Site_p.S386_splice|TCF4_uc010dpi.2_Missense_Mutation_p.S553T|TCF4_uc002lfv.2_Splice_Site_p.S329_splice	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTAGATCTTGACCTAGTAATT	0.373												
ATP8B1	5205	broad.mit.edu	37	18	55319829	55319829	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:55319829T>C	uc002lgw.2	-	24	3148	c.3148A>G	c.(3148-3150)ATA>GTA	p.I1050V	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1050	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCAAGAGGTATGAAGAAGAGG	0.448									Byler_disease			
ZNF532	55205	broad.mit.edu	37	18	56651281	56651281	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:56651281G>A	uc002lho.2	+	11	4036	c.3489G>A	c.(3487-3489)CTG>CTA	p.L1163L	ZNF532_uc002lhp.2_Silent_p.L1161L|ZNF532_uc010xeg.1_Silent_p.L1161L|ZNF532_uc002lhr.2_Silent_p.L1161L|ZNF532_uc002lhs.2_Silent_p.L1161L|ZNF532_uc010xeh.1_Silent_p.L251L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CTCAACCACTGAAAAAGCTGA	0.493												
KIAA1468	57614	broad.mit.edu	37	18	59933944	59933944	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:59933944A>G	uc002lil.2	+	19	2857	c.2642A>G	c.(2641-2643)CAG>CGG	p.Q881R	KIAA1468_uc002lik.1_Missense_Mutation_p.Q881R|KIAA1468_uc010xel.1_Missense_Mutation_p.Q881R|KIAA1468_uc002lim.2_Missense_Mutation_p.Q525R	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	881							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GTAAAACCTCAGTTCCAGGAG	0.308												
RTTN	25914	broad.mit.edu	37	18	67836277	67836277	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:67836277C>T	uc002lkp.2	-	12	1571	c.1503G>A	c.(1501-1503)ATG>ATA	p.M501I	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.M501I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	501							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				ATGCTGTTGACATAGGCTCTG	0.303												
ADNP2	22850	broad.mit.edu	37	18	77893685	77893685	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:77893685C>A	uc002lnw.2	+	4	844	c.389C>A	c.(388-390)CCT>CAT	p.P130H		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	130					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCACCTGTCCGGAAA	0.413												
GZMM	3004	broad.mit.edu	37	19	549785	549785	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:549785G>A	uc002low.1	+	5	813	c.768G>A	c.(766-768)TCG>TCA	p.S256S		NM_005317	NP_005308	P51124	GRAM_HUMAN	granzyme M precursor	256					apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCCGATCGGCCTGATGCC	0.662												
TLE2	7089	broad.mit.edu	37	19	3005766	3005766	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:3005766G>A	uc002lww.2	-	16	1964	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	TLE2_uc010xhb.1_Silent_p.S234S|TLE2_uc010dth.2_Silent_p.S568S|TLE2_uc010xhc.1_Silent_p.S445S|TLE2_uc010dti.2_Silent_p.S581S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	567	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		TGTTGCCATCGCTGCAGCAGG	0.662												
C19orf29	58509	broad.mit.edu	37	19	3619215	3619215	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:3619215G>A	uc002lyh.2	-	5	963	c.910C>T	c.(910-912)CGG>TGG	p.R304W	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.R152W|C19orf29_uc002lyi.3_Missense_Mutation_p.R304W|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	304						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTGGCCCGCCCGTCCCGG	0.627												
CREB3L3	84699	broad.mit.edu	37	19	4154961	4154961	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4154961C>A	uc002lzl.2	+	2	209	c.93C>A	c.(91-93)GAC>GAA	p.D31E	CREB3L3_uc002lzm.2_Missense_Mutation_p.D22E|CREB3L3_uc010xib.1_Missense_Mutation_p.D22E|CREB3L3_uc010xic.1_Missense_Mutation_p.D22E	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	31	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGTTTGACCGGCAGGACG	0.622												
SH3GL1	6455	broad.mit.edu	37	19	4363832	4363832	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4363832T>C	uc002maj.2	-	6	615	c.509A>G	c.(508-510)TAC>TGC	p.Y170C	SH3GL1_uc002mak.2_Missense_Mutation_p.Y106C|SH3GL1_uc010xig.1_Missense_Mutation_p.Y122C	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	170	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTTCTTCTTGTAGTCAAAGTC	0.622			T	MLL	AL							
PLIN4	729359	broad.mit.edu	37	19	4511671	4511671	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4511671G>A	uc002mar.1	-	3	2259	c.2259C>T	c.(2257-2259)TCC>TCT	p.S753S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	753	27 X 33 AA approximate tandem repeat.|20.					lipid particle|plasma membrane					0						TGAGCCCAGTGGACACAGCAT	0.577												
PLIN5	440503	broad.mit.edu	37	19	4523866	4523866	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4523866C>T	uc002mas.2	-	8	1119	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	356						lipid particle					0						TCCACGCAGGCGTGCGCGTGG	0.736												
PLIN3	10226	broad.mit.edu	37	19	4852236	4852236	+	Silent	SNP	C	C	T	rs35640392		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4852236C>T	uc002mbj.2	-	5	603	c.426G>A	c.(424-426)ACG>ACA	p.T142T	PLIN3_uc002mbk.2_Silent_p.T130T|PLIN3_uc002mbl.3_Silent_p.T142T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	142					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	GGGTGGCCACCGTGTCCTTGG	0.632											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTPRS	5802	broad.mit.edu	37	19	5212459	5212459	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:5212459G>A	uc002mbv.2	-	31	4892	c.4658C>T	c.(4657-4659)ACG>ATG	p.T1553M	PTPRS_uc002mbu.1_Missense_Mutation_p.T1122M|PTPRS_uc010xin.1_Missense_Mutation_p.T1095M|PTPRS_uc002mbw.2_Missense_Mutation_p.T1515M|PTPRS_uc002mbx.2_Missense_Mutation_p.T1110M|PTPRS_uc002mby.2_Missense_Mutation_p.T1106M	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1553	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGCCACGCCGTAAACTGGAA	0.547												
ACSBG2	81616	broad.mit.edu	37	19	6182910	6182910	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:6182910T>C	uc002mef.1	+	9	1282	c.1055T>C	c.(1054-1056)ATT>ACT	p.I352T	ACSBG2_uc002mee.1_Missense_Mutation_p.I165T|ACSBG2_uc002meg.1_Missense_Mutation_p.I352T|ACSBG2_uc002meh.1_Missense_Mutation_p.I352T|ACSBG2_uc002mei.1_Missense_Mutation_p.I302T|ACSBG2_uc010xiz.1_Missense_Mutation_p.I352T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	352					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						GCAAGAAACATTGGCTTCAAG	0.502												
TRIP10	9322	broad.mit.edu	37	19	6742993	6742993	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:6742993G>T	uc002mfs.2	+	4	279	c.213G>T	c.(211-213)CAG>CAT	p.Q71H	TRIP10_uc010dux.1_Missense_Mutation_p.Q71H|TRIP10_uc002mfr.2_Missense_Mutation_p.Q71H|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Intron	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	71	Required for podosome formation and interaction with AKAP9 and microtubules.|Induction of membrane tubulation.|Required for translocation to the plasma membrane in response to insulin (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						GCCAGCAACAGTCCTTCGTAC	0.587												
PNPLA6	10908	broad.mit.edu	37	19	7621376	7621376	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:7621376C>T	uc010xjq.1	+	27	3356	c.3161C>T	c.(3160-3162)ACG>ATG	p.T1054M	PNPLA6_uc002mgq.1_Missense_Mutation_p.T1006M|PNPLA6_uc010xjp.1_Missense_Mutation_p.T979M|PNPLA6_uc002mgr.1_Missense_Mutation_p.T1006M|PNPLA6_uc002mgs.2_Missense_Mutation_p.T1044M|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1045	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TTGGACCTCACGTACCCAGTC	0.542												
XAB2	56949	broad.mit.edu	37	19	7692684	7692684	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:7692684C>T	uc002mgx.2	-	3	280	c.254G>A	c.(253-255)CGC>CAC	p.R85H	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	85					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGTCACACAGCGATGCTTCAC	0.552								Direct_reversal_of_damage|NER				
MUC16	94025	broad.mit.edu	37	19	9083944	9083944	+	Missense_Mutation	SNP	G	G	A	rs144088703	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:9083944G>A	uc002mkp.2	-	1	8075	c.7871C>T	c.(7870-7872)ACG>ATG	p.T2624M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2624	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAAGGTGGCGTGGACACAGT	0.493												
DNMT1	1786	broad.mit.edu	37	19	10257153	10257153	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10257153A>G	uc002mng.2	-	27	2900	c.2720T>C	c.(2719-2721)ATC>ACC	p.I907T	DNMT1_uc002mnf.2_5'Flank|DNMT1_uc010xlc.1_Missense_Mutation_p.I923T|DNMT1_uc002mnh.2_Missense_Mutation_p.I802T|DNMT1_uc010xld.1_Missense_Mutation_p.I907T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	907					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GACCCTGGGGATTTCTTTTTG	0.562												
ICAM4	3386	broad.mit.edu	37	19	10398355	10398355	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10398355C>A	uc002mns.1	+	2	577	c.538C>A	c.(538-540)CTG>ATG	p.L180M	ICAM4_uc002mnr.1_Missense_Mutation_p.P154H|ICAM4_uc002mnt.1_Missense_Mutation_p.L180M|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	180	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTCCGAAAGCCTGGAGCGCTT	0.617												
TYK2	7297	broad.mit.edu	37	19	10479000	10479000	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10479000A>G	uc002moc.3	-	4	666	c.288T>C	c.(286-288)GAT>GAC	p.D96D	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.D96D	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	96	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGCTTGCATCTCTGGGGA	0.537												
SMARCA4	6597	broad.mit.edu	37	19	11145784	11145784	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11145784A>G	uc002mqf.3	+	29	4430	c.4146A>G	c.(4144-4146)TCA>TCG	p.S1382S	SMARCA4_uc010dxp.2_Silent_p.S1382S|SMARCA4_uc010dxo.2_Silent_p.S1382S|SMARCA4_uc010dxq.2_Silent_p.S1349S|SMARCA4_uc010dxr.2_Silent_p.S1349S|SMARCA4_uc002mqj.3_Silent_p.S1349S|SMARCA4_uc010dxs.2_Silent_p.S1349S|SMARCA4_uc010dxt.1_Silent_p.S569S|SMARCA4_uc002mqh.3_Silent_p.S472S|SMARCA4_uc002mqi.1_Silent_p.S552S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1382					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAGCGACTCACTGACGGAGA	0.667			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
KANK2	25959	broad.mit.edu	37	19	11303705	11303705	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11303705C>T	uc010dxv.2	-	6	1609	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T	KANK2_uc002mqm.2_Missense_Mutation_p.A351T|KANK2_uc002mqo.3_Missense_Mutation_p.A351T|KANK2_uc002mqp.1_Missense_Mutation_p.A160T|KANK2_uc002mqq.2_Missense_Mutation_p.A351T	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	351											0						GCCCGCTGTGCGGGGGCGCCA	0.711												
ELAVL3	1995	broad.mit.edu	37	19	11569310	11569310	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11569310G>A	uc002mry.1	-	4	830	c.450C>T	c.(448-450)CGC>CGT	p.R150R	ELAVL3_uc002mrx.1_Silent_p.R150R	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	150	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						ACGTGATGATGCGGCCGTACT	0.627												
MAN2B1	4125	broad.mit.edu	37	19	12772078	12772078	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12772078G>A	uc002mub.2	-	7	1098	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	MAN2B1_uc010dyv.1_Missense_Mutation_p.A341V	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	341					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						ACTGACCTGCGCATTTACCAG	0.517												
HOOK2	29911	broad.mit.edu	37	19	12883718	12883718	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12883718C>T	uc002muy.2	-	5	435	c.264G>A	c.(262-264)GCG>GCA	p.A88A	HOOK2_uc002muz.2_Silent_p.A88A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	88	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						ACACAGGATGCGCCAGGACCT	0.592												
SYCE2	256126	broad.mit.edu	37	19	13010838	13010838	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:13010838C>T	uc002mvr.2	-	5	607	c.592G>A	c.(592-594)GTG>ATG	p.V198M		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	198					cell division	central element					0						GTTTCAGCCACAGAAGAAACG	0.552												
RFX1	5989	broad.mit.edu	37	19	14090271	14090271	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:14090271G>A	uc002mxv.2	-	7	1094	c.822C>T	c.(820-822)CAC>CAT	p.H274H	RFX1_uc010dzi.2_Silent_p.H274H	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	274					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTTGAGCCACGTGGACTGGCT	0.701												
LPHN1	22859	broad.mit.edu	37	19	14273457	14273457	+	Missense_Mutation	SNP	G	G	A	rs138963845		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:14273457G>A	uc010xnn.1	-	6	1467	c.1171C>T	c.(1171-1173)CGC>TGC	p.R391C	LPHN1_uc010xno.1_Missense_Mutation_p.R386C|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	391	Olfactomedin-like.|Extracellular (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						AGGCTGTAGCGCACCACGAAA	0.607												
SLC1A6	6511	broad.mit.edu	37	19	15082660	15082660	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15082660G>A	uc002naa.1	-	2	240	c.232C>T	c.(232-234)CCA>TCA	p.P78S	SLC1A6_uc010dzu.1_Missense_Mutation_p.P78S|SLC1A6_uc010xod.1_Missense_Mutation_p.P82L|SLC1A6_uc002nab.2_Missense_Mutation_p.P78S|SLC1A6_uc002nac.2_Missense_Mutation_p.P78S|SLC1A6_uc002nad.1_Missense_Mutation_p.P78S	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	78					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	AGCTGATATGGGCGCAGGGCA	0.468												
SYDE1	85360	broad.mit.edu	37	19	15224480	15224480	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15224480C>T	uc002nah.1	+	8	1945	c.1914C>T	c.(1912-1914)CGC>CGT	p.R638R	SYDE1_uc002nai.1_Silent_p.R571R|SYDE1_uc002naj.1_Silent_p.R295R	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	638					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CTCGGCCCCGCGGTCGAGGAG	0.682												
AKAP8	10270	broad.mit.edu	37	19	15479059	15479059	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15479059G>A	uc002nav.2	-	9	1208	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.R197C	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	383					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TCGGCTGCACGGTCCCGCGtc	0.453												
PGLYRP2	114770	broad.mit.edu	37	19	15582709	15582709	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15582709G>A	uc002nbf.3	-	3	1468	c.1335C>T	c.(1333-1335)ATC>ATT	p.I445I	PGLYRP2_uc002nbg.3_Silent_p.I445I	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	445					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						ACCTGTAGCCGATGTCTCCCC	0.692												
CYP4F22	126410	broad.mit.edu	37	19	15640536	15640536	+	Missense_Mutation	SNP	C	C	T	rs116743462	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15640536C>T	uc002nbh.3	+	4	406	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	80						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CCAAATGAGGCGGGCCTTCAA	0.557												
OR10H5	284433	broad.mit.edu	37	19	15905054	15905054	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15905054C>A	uc010xos.1	+	1	196	c.196C>A	c.(196-198)CTC>ATC	p.L66I		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTGTGTGCCCTCTCCATCAC	0.627												
EPS15L1	58513	broad.mit.edu	37	19	16528865	16528865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:16528865G>A	uc002ndz.1	-	11	1007	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	EPS15L1_uc002ndx.2_Missense_Mutation_p.A334V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.A224V|EPS15L1_uc010xpf.1_Missense_Mutation_p.A237V|EPS15L1_uc002nea.1_Missense_Mutation_p.A334V|EPS15L1_uc010eah.1_Missense_Mutation_p.A334V|EPS15L1_uc002neb.1_Missense_Mutation_p.A180V|EPS15L1_uc002nec.1_Missense_Mutation_p.A334V	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	334	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CATAGCTAACGCGAATTGGTC	0.562											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPAMD8	27151	broad.mit.edu	37	19	17036177	17036177	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:17036177C>T	uc002nfb.2	-	26	3549	c.3517G>A	c.(3517-3519)GTC>ATC	p.V1173I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1126						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGCCCCATGACGTCCCCTGGT	0.557												
MYO9B	4650	broad.mit.edu	37	19	17298813	17298813	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:17298813C>T	uc010eak.2	+	19	2799	c.2647C>T	c.(2647-2649)CGC>TGC	p.R883C	MYO9B_uc002nfi.2_Missense_Mutation_p.R883C|MYO9B_uc002nfj.1_Missense_Mutation_p.R883C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	883	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GGAGACCGTGCGCATCCGGAG	0.577												
ARRDC2	27106	broad.mit.edu	37	19	18120836	18120836	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:18120836C>G	uc002nhv.2	+	5	980	c.837C>G	c.(835-837)GAC>GAG	p.D279E	ARRDC2_uc002nhu.2_Missense_Mutation_p.D274E	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	279										pancreas(1)	1						TACACGTGGACTACGCACTCA	0.672												
KLHL26	55295	broad.mit.edu	37	19	18779651	18779651	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:18779651G>A	uc002njz.1	+	3	1471	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	482	Kelch 4.									ovary(1)	1						GCACTGCTACGACCCCGTGGC	0.692												
SF4	57794	broad.mit.edu	37	19	19388563	19388563	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19388563G>A	uc002nmh.2	-	12	1763	c.1761C>T	c.(1759-1761)GGC>GGT	p.G587G	SF4_uc002nmf.2_Silent_p.G137G|SF4_uc002nmg.2_Silent_p.G137G|SF4_uc002nmi.2_Silent_p.G377G|SF4_uc002nmj.2_Silent_p.G377G|SF4_uc002nme.2_Silent_p.G137G	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	587	G-patch.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						GGTTCTTGATGCCCTGGCCCT	0.597												
CILP2	148113	broad.mit.edu	37	19	19654065	19654065	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19654065A>G	uc002nmv.3	+	7	1071	c.986A>G	c.(985-987)AAT>AGT	p.N329S	CILP2_uc002nmw.3_Missense_Mutation_p.N335S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	329	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						AGGTTCCACAATGGGACCCTG	0.652												
GMIP	51291	broad.mit.edu	37	19	19741100	19741100	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19741100C>T	uc002nnd.2	-	21	2702	c.2585G>A	c.(2584-2586)CGT>CAT	p.R862H	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.R836H|GMIP_uc010xrc.1_Missense_Mutation_p.R833H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	862					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GAAGTGGCCACGAGACTGTGT	0.622												
ZNF675	171392	broad.mit.edu	37	19	23836431	23836431	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:23836431C>T	uc002nri.2	-	4	1486	c.1304G>A	c.(1303-1305)CGA>CAA	p.R435Q		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	435	C2H2-type 11.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGAGGATCGGTTAAAAGC	0.378												
UQCRFS1	7386	broad.mit.edu	37	19	29698468	29698468	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:29698468A>G	uc002nsd.2	-	2	923	c.812T>C	c.(811-813)GTG>GCG	p.V271A		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	271	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ACCAACAATCACCATATCGTC	0.463												
LRP3	4037	broad.mit.edu	37	19	33693789	33693789	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:33693789C>T	uc010edh.2	+	3	250	c.157C>T	c.(157-159)CGG>TGG	p.R53W	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'Flank	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	53	Extracellular (Potential).|CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GCACACGGAGCGGCGTGGGGT	0.652												
CHST8	64377	broad.mit.edu	37	19	34263795	34263795	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34263795C>A	uc002nus.3	+	5	1607	c.1102C>A	c.(1102-1104)CTG>ATG	p.L368M	CHST8_uc002nut.3_Missense_Mutation_p.L368M|CHST8_uc002nuu.2_Missense_Mutation_p.L368M	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	368	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GCCGCGGAACCTGACCTTCCC	0.632												
KCTD15	79047	broad.mit.edu	37	19	34292185	34292186	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34292185_34292186CG>TA	uc002nuy.3	+	4	448_449	c.180_181CG>TA	c.(178-183)ATCGAT>ATTAAT	p.D61N	KCTD15_uc002nuv.2_Missense_Mutation_p.D61N|KCTD15_uc002nuw.3_Missense_Mutation_p.D61N|KCTD15_uc010xrt.1_Missense_Mutation_p.D61N|KCTD15_uc002nux.3_Missense_Mutation_p.D61N	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CTGTGCACATCGATGTGGGCGG	0.619												
KIAA0355	9710	broad.mit.edu	37	19	34791601	34791601	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34791601G>A	uc002nvd.3	+	2	1082	c.223G>A	c.(223-225)GAC>AAC	p.D75N	KIAA0355_uc010edk.1_Missense_Mutation_p.D65N	NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	75										ovary(1)	1	Esophageal squamous(110;0.162)					TCCTATCGCCGACATCCAGCA	0.602												
ATP4A	495	broad.mit.edu	37	19	36049337	36049337	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36049337C>T	uc002oal.1	-	10	1456	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	476	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CATGGCGTTGCCCAGCGTCAG	0.657												
MLL4	9757	broad.mit.edu	37	19	36215889	36215889	+	Splice_Site	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36215889G>T	uc010eei.2	+	11	3430	c.3430_splice	c.e11-1	p.D1144_splice		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCCTCCCCAGGATGCTTTGG	0.597												
MLL4	9757	broad.mit.edu	37	19	36223476	36223476	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36223476C>T	uc010eei.2	+	29	6026	c.6026C>T	c.(6025-6027)GCC>GTC	p.A2009V		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2009					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGATTGTAGCCGCTGGGGCC	0.657												
LRFN3	79414	broad.mit.edu	37	19	36430917	36430917	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36430917C>T	uc002oco.2	+	2	1042	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	197	Extracellular (Potential).|LRR 6.			Missing (in Ref. 2; AAQ88494).	cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTGTGCCCGCCGGCGCTTTT	0.667												
ZNF382	84911	broad.mit.edu	37	19	37117434	37117434	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37117434T>C	uc002oek.2	+	5	748	c.635T>C	c.(634-636)TTT>TCT	p.F212S	ZNF382_uc010efa.2_Missense_Mutation_p.F163S|ZNF382_uc010efb.2_Missense_Mutation_p.F211S|ZNF382_uc002oel.2_Missense_Mutation_p.F211S	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	212	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGCAACCATTTGACCATAAT	0.378												
ZNF568	374900	broad.mit.edu	37	19	37488248	37488248	+	Missense_Mutation	SNP	G	G	A	rs148872903	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37488248G>A	uc010efg.2	+	10	2170	c.1613G>A	c.(1612-1614)CGA>CAA	p.R538Q	ZNF568_uc010xtn.1_Missense_Mutation_p.R476Q|uc010efi.2_Missense_Mutation_p.R356Q|uc010efj.2_Missense_Mutation_p.R356Q			Q3ZCX4	ZN568_HUMAN	SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACTTACCCGACATCAGAGA	0.438												
ZNF585A	199704	broad.mit.edu	37	19	37647242	37647242	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37647242T>C	uc002ofo.1	-	3	319	c.88A>G	c.(88-90)AGG>GGG	p.R30G	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCACATCCCTGAAGGACACT	0.488												
SIPA1L3	23094	broad.mit.edu	37	19	38597247	38597247	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:38597247C>A	uc002ohk.2	+	7	2609	c.2100C>A	c.(2098-2100)ACC>ACA	p.T700T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGTCTCCACCCTGCTCCCTT	0.572												
LGALS7B	653499	broad.mit.edu	37	19	39281375	39281375	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:39281375G>A	uc002ojf.3	+	3	159	c.142G>A	c.(142-144)GCC>ACC	p.A48T		NM_001042507	NP_001035972	P47929	LEG7_HUMAN	galectin-7B	48	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0						CTCCGATGCCGCCCTGCATTT	0.637												
NCCRP1	342897	broad.mit.edu	37	19	39690989	39690989	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:39690989C>T	uc002okq.1	+	5	571	c.552C>T	c.(550-552)TTC>TTT	p.F184F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	184	FBA.				protein catabolic process					ovary(1)	1						CCTGCAGGTTCGAGGACAGCC	0.592												
DYRK1B	9149	broad.mit.edu	37	19	40321029	40321029	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321029C>A	uc002omj.2	-	4	638	c.358G>T	c.(358-360)GGC>TGC	p.G120C	DYRK1B_uc002omi.2_Missense_Mutation_p.G120C|DYRK1B_uc002omk.2_Missense_Mutation_p.G120C|DYRK1B_uc002oml.2_Missense_Mutation_p.G120C	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	120	ATP (By similarity).|Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCAAAGGAGCCTTTGCCAATG	0.517												
DYRK1B	9149	broad.mit.edu	37	19	40321086	40321086	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321086C>T	uc002omj.2	-	4	581	c.301G>A	c.(301-303)GTG>ATG	p.V101M	DYRK1B_uc002omi.2_Missense_Mutation_p.V101M|DYRK1B_uc002omk.2_Missense_Mutation_p.V101M|DYRK1B_uc002oml.2_Missense_Mutation_p.V101M	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	101					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCACTGCGCACGATGTAGTCA	0.597												
DYRK1B	9149	broad.mit.edu	37	19	40321350	40321350	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321350C>T	uc002omj.2	-	3	417	c.137G>A	c.(136-138)CGT>CAT	p.R46H	DYRK1B_uc002omi.2_Missense_Mutation_p.R46H|DYRK1B_uc002omk.2_Missense_Mutation_p.R46H|DYRK1B_uc002oml.2_Missense_Mutation_p.R46H	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	46					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGAGAGCTTACGCAGCGGGGC	0.647												
FCGBP	8857	broad.mit.edu	37	19	40434017	40434017	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40434017G>A	uc002omp.3	-	2	260	c.252C>T	c.(250-252)CCC>CCT	p.P84P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	84	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGACTCCCCGGGCCTCACTG	0.562												
ZNF780B	163131	broad.mit.edu	37	19	40541678	40541678	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40541678C>T	uc002omu.2	-	5	1153	c.1088G>A	c.(1087-1089)TGC>TAC	p.C363Y	ZNF780B_uc002omv.2_Missense_Mutation_p.C215Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	363	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCATTCCCTGCATTCAAAGGG	0.413												
PRX	57716	broad.mit.edu	37	19	40900414	40900414	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40900414G>A	uc002onr.2	-	7	4114	c.3845C>T	c.(3844-3846)TCG>TTG	p.S1282L	PRX_uc002onq.2_Missense_Mutation_p.S1143L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1282					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGGATGGCGAGAGCTCCAC	0.697												
LTBP4	8425	broad.mit.edu	37	19	41113279	41113279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41113279G>A	uc002ooh.1	+	10	1201	c.1201G>A	c.(1201-1203)GTG>ATG	p.V401M	LTBP4_uc002oog.1_Missense_Mutation_p.V364M|LTBP4_uc002ooi.1_Missense_Mutation_p.V334M|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	401					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCCCAACACGTGATCTCAGA	0.607												
CYP2F1	1572	broad.mit.edu	37	19	41627521	41627521	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41627521G>A	uc002opu.1	+	5	699	c.643G>A	c.(643-645)GAG>AAG	p.E215K	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.E215K|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	215					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CCCCTGGGGCGAGGTCAGCCA	0.587												
EXOSC5	56915	broad.mit.edu	37	19	41893465	41893465	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41893465C>T	uc002oqo.2	-	5	592	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	190					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0						CAGCAGCTTCCGTTCCACGCT	0.582												
ATP1A3	478	broad.mit.edu	37	19	42473602	42473602	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42473602A>T	uc002osg.2	-	19	2827	c.2673T>A	c.(2671-2673)AGT>AGA	p.S891R	ATP1A3_uc010xwf.1_Missense_Mutation_p.S902R|ATP1A3_uc010xwg.1_Missense_Mutation_p.S861R|ATP1A3_uc010xwh.1_Missense_Mutation_p.S904R|ATP1A3_uc002osh.2_Missense_Mutation_p.S891R	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	891	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GCTGCCCGTAACTGTCTTCCA	0.587												
PSG2	5670	broad.mit.edu	37	19	43576030	43576030	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:43576030G>A	uc002ovr.2	-	4	879	c.786C>T	c.(784-786)TTC>TTT	p.F262F	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.F262F|PSG2_uc010eiq.1_Silent_p.F262F|PSG2_uc002ovs.3_Silent_p.F262F|PSG2_uc002ovt.3_Silent_p.F262F	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	262	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAGAGTTCGCGAAGCAAGACA	0.438												
OPA3	80207	broad.mit.edu	37	19	46087972	46087972	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46087972C>T	uc002pck.3	-	1	151	c.51G>A	c.(49-51)CGG>CGA	p.R17R	OPA3_uc002pcj.3_Silent_p.R17R|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	17					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TGCTGACCTGCCGGATGCCCA	0.632												
EML2	24139	broad.mit.edu	37	19	46128026	46128026	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46128026G>A	uc002pcn.2	-	9	827	c.792C>T	c.(790-792)GGC>GGT	p.G264G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G148G|EML2_uc010xxl.1_Silent_p.G411G|EML2_uc010xxm.1_Silent_p.G465G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G264G|EML2_uc010ekj.2_Intron|EML2_uc010ekk.1_RNA	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	264	WD 4.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGACCACGTCGCCACCTTCCA	0.527												
SNRPD2	6633	broad.mit.edu	37	19	46190926	46190926	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46190926C>T	uc002pcw.2	-	3	539	c.242G>A	c.(241-243)GGC>GAC	p.G81D	SNRPD2_uc002pcv.2_Missense_Mutation_p.G71D	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	81					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTTGCCCTTGCCACTCTTGGG	0.597												
PRKD2	25865	broad.mit.edu	37	19	47197162	47197162	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:47197162C>T	uc002pfh.2	-	11	1888	c.1546G>A	c.(1546-1548)GCA>ACA	p.A516T	PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_Missense_Mutation_p.A36T|PRKD2_uc002pff.2_Missense_Mutation_p.A36T|PRKD2_uc002pfg.2_Missense_Mutation_p.A359T|PRKD2_uc002pfi.2_Missense_Mutation_p.A516T|PRKD2_uc002pfj.2_Missense_Mutation_p.A516T|PRKD2_uc010xye.1_Missense_Mutation_p.A516T|PRKD2_uc002pfk.2_Missense_Mutation_p.A359T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	516					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCTGGGTGCGTCCTGAAGG	0.682												
ZC3H4	23211	broad.mit.edu	37	19	47597337	47597337	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:47597337G>A	uc002pga.3	-	4	420	c.382C>T	c.(382-384)CGC>TGC	p.R128C	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	128	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAAGCATGGCGCTGTAATGAC	0.567												
GLTSCR2	29997	broad.mit.edu	37	19	48254791	48254791	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48254791C>T	uc002phm.2	+	5	637	c.613C>T	c.(613-615)CCG>TCG	p.P205S	GLTSCR2_uc002phk.2_Missense_Mutation_p.P205S|GLTSCR2_uc002phl.2_Missense_Mutation_p.P205S|GLTSCR2_uc010elj.2_Missense_Mutation_p.P205S|GLTSCR2_uc010elk.1_RNA	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	205				SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCTGGACAGGCCGTTGGTTGG	0.582												
PLA2G4C	8605	broad.mit.edu	37	19	48558274	48558274	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48558274G>A	uc002phx.2	-	15	1688	c.1290C>T	c.(1288-1290)CGC>CGT	p.R430R	PLA2G4C_uc002phv.2_RNA|PLA2G4C_uc002phw.2_Silent_p.R365R|PLA2G4C_uc010elr.2_Silent_p.R430R|PLA2G4C_uc010xzd.1_Silent_p.R440R	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	430	PLA2c.		R -> C.		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGATCTTGTGGCGGCGGCAGT	0.572												
LIG1	3978	broad.mit.edu	37	19	48654587	48654587	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48654587G>T	uc002pia.1	-	7	596	c.476C>A	c.(475-477)ACC>AAC	p.T159N	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.T128N|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	159					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCTTTCGGGGTCTCCTCTTC	0.537								NER				
GYS1	2997	broad.mit.edu	37	19	49494706	49494706	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49494706C>T	uc002plp.2	-	2	394	c.153G>A	c.(151-153)GCG>GCA	p.A51A	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.A51A|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	51					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTGTCACCTTCGCCTTCGTCT	0.677												
RUVBL2	10856	broad.mit.edu	37	19	49510289	49510289	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49510289C>A	uc002plr.1	+	5	293	c.280C>A	c.(280-282)CTG>ATG	p.L94M	RUVBL2_uc002plq.1_Missense_Mutation_p.L49M|RUVBL2_uc010yab.1_Missense_Mutation_p.L94M|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.L49M|RUVBL2_uc010yac.1_Missense_Mutation_p.L49M	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	94					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGCGCAGGCCCTGGGCCCTGA	0.627												
DKKL1	27120	broad.mit.edu	37	19	49878158	49878158	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49878158G>A	uc002pnk.2	+	5	816	c.602G>A	c.(601-603)CGG>CAG	p.R201Q		NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	201					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CAGGCCATCCGGGATGGACTC	0.647												
LRRC4B	94030	broad.mit.edu	37	19	51021955	51021955	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51021955G>A	uc002pss.2	-	3	1152	c.1015C>T	c.(1015-1017)CGC>TGC	p.R339C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	339	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCATGACAGCGGGCGCAGCAC	0.657												
SIGLEC9	27180	broad.mit.edu	37	19	51628989	51628989	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51628989C>T	uc002pvu.2	+	2	624	c.557C>T	c.(556-558)TCC>TTC	p.S186F	SIGLEC9_uc010yct.1_Missense_Mutation_p.S186F	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	186	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCTCCGTGTCCCCCCTGGAC	0.667												
SIGLEC6	946	broad.mit.edu	37	19	52033142	52033142	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:52033142T>C	uc002pwy.2	-	5	1010	c.848A>G	c.(847-849)CAC>CGC	p.H283R	SIGLEC6_uc002pwz.2_Missense_Mutation_p.H267R|SIGLEC6_uc002pxa.2_Missense_Mutation_p.H283R|SIGLEC6_uc010ydb.1_Missense_Mutation_p.H220R|SIGLEC6_uc010ydc.1_Missense_Mutation_p.H283R|SIGLEC6_uc010eoz.1_Missense_Mutation_p.H261R|SIGLEC6_uc010epb.1_Missense_Mutation_p.H236R|SIGLEC6_uc010epa.1_Missense_Mutation_p.H272R	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	283	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCAGCTCAGGTGTGCAGGGGG	0.617												
ZNF616	90317	broad.mit.edu	37	19	52618234	52618234	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:52618234C>T	uc002pym.2	-	4	2466	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	728	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGAAAACAACCGCCCAAAGGC	0.408												
ZNF28	7576	broad.mit.edu	37	19	53304072	53304072	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:53304072T>C	uc002qad.2	-	4	1146	c.1026A>G	c.(1024-1026)CTA>CTG	p.L342L	ZNF28_uc002qac.2_Silent_p.L289L|ZNF28_uc010eqe.2_Silent_p.L288L	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	342	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGTTTTGCTAGGTATGAAT	0.383												
CACNG7	59284	broad.mit.edu	37	19	54416192	54416192	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54416192T>C	uc002qcr.1	+	1	122	c.107T>C	c.(106-108)ATG>ACG	p.M36T	CACNG7_uc010era.1_Missense_Mutation_p.M36T	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	36					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	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;0.0711)		TGGCTGTACATGGAAGAAGGC	0.627												
CACNG7	59284	broad.mit.edu	37	19	54445306	54445306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54445306C>T	uc002qcr.1	+	5	602	c.587C>T	c.(586-588)TCC>TTC	p.S196F		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	196	Helical; (Potential).			GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	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;0.0711)		GGCGTGATGTCCGTGTACCTG	0.677												
CACNG8	59283	broad.mit.edu	37	19	54466537	54466537	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54466537G>A	uc002qcs.1	+	1	244	c.138G>A	c.(136-138)ACG>ACA	p.T46T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	47					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGCTCTACACGCGCGCCCTCA	0.711												
LENG8	114823	broad.mit.edu	37	19	54967827	54967827	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54967827G>A	uc002qfv.1	+	10	1491	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	LENG8_uc002qfw.2_Silent_p.A486A			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	449							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACGATCTGGCGCCCACCAAGC	0.662												
KIR2DS4	3809	broad.mit.edu	37	19	55354348	55354348	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55354348A>G	uc002qhm.1	+	6	736	c.690A>G	c.(688-690)TCA>TCG	p.S230S	KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	230	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GTTGGCCTTCACCCACTGAAC	0.493												
EPS8L1	54869	broad.mit.edu	37	19	55597494	55597494	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55597494C>A	uc002qis.3	+	16	1688	c.1584C>A	c.(1582-1584)CCC>CCA	p.P528P	EPS8L1_uc010ess.1_Silent_p.P542P|EPS8L1_uc010yfr.1_Silent_p.P464P|EPS8L1_uc002qiu.2_Silent_p.P401P|EPS8L1_uc002qiv.2_Silent_p.P206P|EPS8L1_uc002qiw.2_Silent_p.P307P	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	528	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GATATGTGCCCTACAACATCC	0.627												
SAPS1	22870	broad.mit.edu	37	19	55752707	55752707	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55752707G>A	uc002qjw.3	-	9	1303	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	SAPS1_uc002qjv.2_Missense_Mutation_p.T416M	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	354	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GTGCAGCCGCGTGTTGCCCAG	0.632												
ZNF580	51157	broad.mit.edu	37	19	56153895	56153895	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:56153895G>A	uc002qlo.2	+	2	191	c.21G>A	c.(19-21)CGG>CGA	p.R7R	ZNF580_uc002qlm.2_Silent_p.R20R|ZNF581_uc002qln.2_Intron|ZNF580_uc002qlp.2_Silent_p.R7R|ZNF580_uc010ygd.1_Silent_p.R7R|ZNF581_uc002qlq.2_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	zinc finger protein 580	7	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627												
NLRP8	126205	broad.mit.edu	37	19	56459621	56459621	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:56459621G>A	uc002qmh.2	+	1	424	c.353G>A	c.(352-354)CGC>CAC	p.R118H	NLRP8_uc010etg.2_Missense_Mutation_p.R118H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	118	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTGTAGTCCGCAGAGAGATA	0.473												
ZNF71	58491	broad.mit.edu	37	19	57133281	57133281	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57133281C>T	uc002qnm.3	+	3	864	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	209						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGCACGCACACGGGCGAGAAG	0.652												
ZNF749	388567	broad.mit.edu	37	19	57955692	57955692	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57955692T>C	uc002qoq.2	+	3	1430	c.1176T>C	c.(1174-1176)AGT>AGC	p.S392S	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	392	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AATTCTTTAGTCACCGCTCCA	0.428												
ZNF551	90233	broad.mit.edu	37	19	58199066	58199066	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58199066T>C	uc002qpw.3	+	3	1598	c.1375T>C	c.(1375-1377)TAT>CAT	p.Y459H	ZNF551_uc002qpv.3_Missense_Mutation_p.Y402H|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	475	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGATAGGCCTTATGAGTGCAG	0.423												
ZNF552	79818	broad.mit.edu	37	19	58320135	58320135	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58320135C>A	uc002qqg.2	-	3	667	c.497G>T	c.(496-498)GGG>GTG	p.G166V	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.G162V	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGATGACTCCCCTGACACATG	0.483												
ZNF418	147686	broad.mit.edu	37	19	58439171	58439171	+	Silent	SNP	C	C	T	rs141826842	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58439171C>T	uc002qqs.1	-	4	670	c.378G>A	c.(376-378)CCG>CCA	p.P126P	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.P41P	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GATTCTGGTGCGGACGGTTTG	0.453												
ZSCAN1	284312	broad.mit.edu	37	19	58565294	58565294	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58565294C>A	uc002qrc.1	+	6	1349	c.1102C>A	c.(1102-1104)CAG>AAG	p.Q368K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGATGGAGCCCAGGGCCCAGT	0.657												
ZNF8	7554	broad.mit.edu	37	19	58797158	58797158	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58797158A>G	uc002qry.1	+	2	272	c.142A>G	c.(142-144)ATC>GTC	p.I48V	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TACCCAGAGGATCCTCTACCG	0.527												
SNTG2	54221	broad.mit.edu	37	2	1161257	1161257	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:1161257C>T	uc002qwq.2	+	7	563	c.435C>T	c.(433-435)GGC>GGT	p.G145G	SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	145	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAAATGCTGGCGATGAAGTTA	0.443												
PXDN	7837	broad.mit.edu	37	2	1658274	1658274	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:1658274T>C	uc002qxa.2	-	15	1908	c.1844A>G	c.(1843-1845)GAC>GGC	p.D615G	PXDN_uc002qxb.1_Missense_Mutation_p.D615G	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	615					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGACTGACGTCAGGAACTAG	0.418												
SOX11	6664	broad.mit.edu	37	2	5833158	5833158	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:5833158C>T	uc002qyj.2	+	1	360	c.305C>T	c.(304-306)GCG>GTG	p.A102V		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	102	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ATCCGGGAGGCGGAGCGGCTG	0.627												
GRHL1	29841	broad.mit.edu	37	2	10130834	10130834	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:10130834G>A	uc002raa.2	+	10	1451	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.R238Q|GRHL1_uc010yjb.1_Missense_Mutation_p.R276Q	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	427					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGAGCTGAGCGGAAAATCAGG	0.423												
C2orf50	130813	broad.mit.edu	37	2	11273484	11273484	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:11273484G>A	uc010yji.1	+	1	306	c.24G>A	c.(22-24)GGG>GGA	p.G8G	uc002raz.1_5'Flank|uc002rba.1_5'Flank|C2orf50_uc010yjj.1_Silent_p.G8G	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	hypothetical protein LOC130813	8											0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCACCCCTGGGCTCCAGAGAA	0.642												
LPIN1	23175	broad.mit.edu	37	2	11944622	11944622	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:11944622G>A	uc010yjn.1	+	16	2253	c.1979G>A	c.(1978-1980)CGC>CAC	p.R660H	LPIN1_uc010yjm.1_Missense_Mutation_p.R745H|LPIN1_uc002rbt.2_Missense_Mutation_p.R660H|LPIN1_uc010yjo.1_Missense_Mutation_p.R161H	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	660	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCACGTGCCGCTGTGAGGGC	0.473												
SMC6	79677	broad.mit.edu	37	2	17884436	17884436	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:17884436A>G	uc002rco.2	-	19	2426	c.2130T>C	c.(2128-2130)TAT>TAC	p.Y710Y	SMC6_uc010exo.2_Silent_p.Y710Y|SMC6_uc002rcn.2_Silent_p.Y710Y|SMC6_uc002rcp.1_Silent_p.Y736Y|SMC6_uc002rcq.2_Silent_p.Y736Y	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	710	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGTTCTTTATAATGTAGTT	0.289												
APOB	338	broad.mit.edu	37	2	21230729	21230729	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:21230729G>T	uc002red.2	-	26	9139	c.9011C>A	c.(9010-9012)GCT>GAT	p.A3004D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3004					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATGCCTTTAGCAGTTAGAAC	0.408												
C2orf44	80304	broad.mit.edu	37	2	24262011	24262011	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:24262011G>A	uc002rep.2	-	2	485	c.354C>T	c.(352-354)GGC>GGT	p.G118G	C2orf44_uc010eya.2_Silent_p.G118G	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	118							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACACACAGCCCTGGGGAA	0.498												
CAD	790	broad.mit.edu	37	2	27460681	27460681	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27460681C>T	uc002rji.2	+	29	4821	c.4659C>T	c.(4657-4659)GCC>GCT	p.A1553A	CAD_uc010eyw.2_Silent_p.A1490A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1553	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTCTGCAGCCGGGCTGAAGC	0.627												
DNAJC5G	285126	broad.mit.edu	37	2	27500844	27500844	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27500844C>T	uc002rjl.1	+	4	754	c.336C>T	c.(334-336)GGC>GGT	p.G112G	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Silent_p.G112G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	112					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAAGGCGTCAGATACT	0.413												
IFT172	26160	broad.mit.edu	37	2	27688651	27688651	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27688651G>A	uc002rku.2	-	17	1842	c.1791C>T	c.(1789-1791)ATC>ATT	p.I597I		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	597	TPR 1.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552												
SPDYA	245711	broad.mit.edu	37	2	29063081	29063081	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:29063081G>A	uc002rmj.2	+	7	802	c.596G>A	c.(595-597)CGT>CAT	p.R199H	SPDYA_uc002rmi.2_Missense_Mutation_p.R199H|SPDYA_uc002rmk.2_Missense_Mutation_p.R199H|SPDYA_uc002rml.2_Missense_Mutation_p.R199H	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	199	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAAAGAGAACGTTCTGTTCAT	0.393												
LTBP1	4052	broad.mit.edu	37	2	33487837	33487837	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:33487837C>T	uc002ros.2	+	14	2467	c.2467C>T	c.(2467-2469)CCC>TCC	p.P823S	LTBP1_uc002rot.2_Missense_Mutation_p.P497S|LTBP1_uc002rou.2_Missense_Mutation_p.P497S|LTBP1_uc002rov.2_Missense_Mutation_p.P444S|LTBP1_uc010ymz.1_Missense_Mutation_p.P497S|LTBP1_uc010yna.1_Missense_Mutation_p.P444S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	823					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCTGGTCAACCCCAGCTGTC	0.383												
CRIM1	51232	broad.mit.edu	37	2	36749246	36749246	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:36749246C>T	uc002rpd.2	+	13	2257	c.2218C>T	c.(2218-2220)CGG>TGG	p.R740W		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	740	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCAACCTTTTCGGCCTTCCTT	0.448												
ATL2	64225	broad.mit.edu	37	2	38545705	38545705	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:38545705G>T	uc002rqq.2	-	4	605	c.575C>A	c.(574-576)GCT>GAT	p.A192D	ATL2_uc010ynm.1_Missense_Mutation_p.A174D|ATL2_uc010ynn.1_Missense_Mutation_p.A174D|ATL2_uc010yno.1_Missense_Mutation_p.A21D|ATL2_uc002rqs.2_Missense_Mutation_p.A192D|ATL2_uc002rqr.2_Missense_Mutation_p.A21D	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	192	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						AGTGCTCAGAGCAAACACCGT	0.408												
THADA	63892	broad.mit.edu	37	2	43787479	43787479	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:43787479C>T	uc002rsw.3	-	16	2709	c.2357G>A	c.(2356-2358)GGT>GAT	p.G786D	THADA_uc010far.2_Missense_Mutation_p.G55D|THADA_uc002rsx.3_Missense_Mutation_p.G786D|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.G496D|THADA_uc010fat.1_Intron|THADA_uc002rta.2_Missense_Mutation_p.G496D|THADA_uc002rtb.1_Missense_Mutation_p.G786D|THADA_uc002rtc.3_Missense_Mutation_p.G786D	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	786							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTGGAAACGACCAACATCAAT	0.294												
SIX2	10736	broad.mit.edu	37	2	45235919	45235919	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:45235919C>T	uc002ruo.2	-	1	624	c.331G>A	c.(331-333)GTG>ATG	p.V111M	SIX2_uc002rup.2_Missense_Mutation_p.V111M	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	111						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGCGGCGCACGCGGTATTTG	0.657												
SRBD1	55133	broad.mit.edu	37	2	45832557	45832557	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:45832557C>T	uc002rus.2	-	2	100	c.24G>A	c.(22-24)GCG>GCA	p.A8A		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	8					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCTGTACTTTCGCTCTTCTTG	0.353												
LHCGR	3973	broad.mit.edu	37	2	48941140	48941140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:48941140G>A	uc002rwu.3	-	7	660	c.590C>T	c.(589-591)ACG>ATG	p.T197M	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	197	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTCAGTGTCGTCCCATTGAA	0.383									Familial_Male-Limited_Precocious_Puberty			
FSHR	2492	broad.mit.edu	37	2	49217744	49217744	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:49217744G>T	uc002rww.2	-	5	481	c.407C>A	c.(406-408)CCA>CAA	p.P136Q	FSHR_uc002rwx.2_Missense_Mutation_p.P136Q|FSHR_uc010fbn.2_Missense_Mutation_p.P136Q|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	136	Extracellular (Potential).|LRR 4.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTGAACATCTGGAAGGTGCTT	0.373									Gonadal_Dysgenesis_46_XX			
NRXN1	9378	broad.mit.edu	37	2	50573835	50573835	+	Missense_Mutation	SNP	C	C	T	rs138844263		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:50573835C>T	uc010fbp.2	-	1	1060	c.253G>A	c.(253-255)GGA>AGA	p.G85R	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	85	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCGTGTCCGCCTCGCAAG	0.572												
GPR75	10936	broad.mit.edu	37	2	54080672	54080672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:54080672G>A	uc002rxo.3	-	2	1493	c.1222C>T	c.(1222-1224)CGA>TGA	p.R408*	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	408	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCCATGGCTCGAAGTCGAGTC	0.448												
CCDC104	112942	broad.mit.edu	37	2	55771388	55771388	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:55771388G>A	uc002ryy.2	+	9	1008	c.810G>A	c.(808-810)CGG>CGA	p.R270R	CCDC104_uc002ryx.2_Silent_p.R295R	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	270										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGAACTTCGGCAACGAGAAC	0.388												
PNPT1	87178	broad.mit.edu	37	2	55870544	55870544	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:55870544C>T	uc002rzf.2	-	24	1976	c.1923G>A	c.(1921-1923)CAG>CAA	p.Q641Q	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	641	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCATCCACCTGACTAATAG	0.264												
KIAA1841	84542	broad.mit.edu	37	2	61304055	61304055	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:61304055G>A	uc002saw.3	+	6	735	c.432G>A	c.(430-432)GGG>GGA	p.G144G	KIAA1841_uc002sax.3_5'UTR|KIAA1841_uc002say.2_Silent_p.G144G|KIAA1841_uc002sav.3_Silent_p.G144G	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	144											0			Epithelial(17;0.193)			TTTTATGAAGGCCAAACATGG	0.333												
USP34	9736	broad.mit.edu	37	2	61475795	61475795	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:61475795C>T	uc002sbe.2	-	49	6267	c.6245G>A	c.(6244-6246)CGC>CAC	p.R2082H	USP34_uc002sbf.2_Missense_Mutation_p.R232H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2082					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTCAAAATGCGAGGCAATTT	0.308												
ANTXR1	84168	broad.mit.edu	37	2	69472360	69472360	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:69472360C>T	uc002sfg.2	+	18	1794	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	480	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						TTTCTAGGGGCGCTGCATCAA	0.468									Familial_Infantile_Hemangioma			
ANXA4	307	broad.mit.edu	37	2	70031679	70031679	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:70031679G>A	uc002sfr.3	+	4	339	c.112G>A	c.(112-114)GCC>ACC	p.A38T	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.A38T|ANXA4_uc010yqo.1_5'UTR	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	36	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						CGATGAAGACGCCATTATTAG	0.552												
FIGLA	344018	broad.mit.edu	37	2	71012593	71012593	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:71012593T>C	uc002she.1	-	3	568	c.563A>G	c.(562-564)CAC>CGC	p.H188R		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	factor in the germline alpha	188					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0						CATCACACTGTGGCGACAAGC	0.448												
NAT8	9027	broad.mit.edu	37	2	73868259	73868259	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:73868259C>T	uc002sji.1	-	2	664	c.497G>A	c.(496-498)CGG>CAG	p.R166Q		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	166	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						GCCCTGGTCCCGGGCAAACTG	0.577												
DCTN1	1639	broad.mit.edu	37	2	74590160	74590160	+	Missense_Mutation	SNP	T	T	A	rs72466493		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:74590160T>A	uc002skx.2	-	29	3801	c.3490A>T	c.(3490-3492)ACA>TCA	p.T1164S	SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Missense_Mutation_p.T98S|DCTN1_uc002skv.2_Missense_Mutation_p.T1030S|DCTN1_uc002sku.2_Missense_Mutation_p.T1025S|DCTN1_uc002skw.1_Missense_Mutation_p.T1140S|DCTN1_uc010ffd.2_Missense_Mutation_p.T1139S|DCTN1_uc002sky.2_Missense_Mutation_p.T1122S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1164					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TGCGTGTGTGTGCTCAATTGA	0.537												
HTRA2	27429	broad.mit.edu	37	2	74759794	74759794	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						CCGATGTTCAGCATGGTGTAC	0.532												
HK2	3099	broad.mit.edu	37	2	75113685	75113685	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:75113685C>T	uc002snd.2	+	15	4030	c.2104C>T	c.(2104-2106)CGG>TGG	p.R702W		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						AGAAGAGGGGCGGATGTGTGT	0.552												
CTNNA2	1496	broad.mit.edu	37	2	80831288	80831288	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:80831288G>A	uc010ysh.1	+	15	2284	c.2279G>A	c.(2278-2280)CGT>CAT	p.R760H	CTNNA2_uc010yse.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysf.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysg.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysi.1_Missense_Mutation_p.R392H|CTNNA2_uc010ysj.1_Missense_Mutation_p.R89H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	760					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AAATTAGCTCGTGCTGTGGCT	0.438												
TMEM150A	129303	broad.mit.edu	37	2	85827471	85827471	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:85827471T>C	uc002spw.1	-	4	986	c.265A>G	c.(265-267)ATG>GTG	p.M89V	USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_Intron|TMEM150A_uc002spz.1_Intron|TMEM150A_uc002sqa.1_Missense_Mutation_p.M5V|TMEM150A_uc002spy.1_Missense_Mutation_p.M89V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150A isoform 1	89	Helical; (Potential).					integral to membrane|plasma membrane					0						AACTCACCCATGAAAGCACCC	0.602												
USP39	10713	broad.mit.edu	37	2	85852763	85852763	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:85852763T>C	uc002sqe.2	+	5	708	c.672T>C	c.(670-672)ATT>ATC	p.I224I	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.I146I|USP39_uc010ysv.1_Silent_p.I121I|USP39_uc010fgn.1_Silent_p.I224I|USP39_uc002sqf.2_Silent_p.I224I|USP39_uc002sqg.2_Silent_p.I224I|USP39_uc010fgo.2_Silent_p.I224I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	224					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						TGCCGGGTATTGTGGGACTGA	0.453												
IMMT	10989	broad.mit.edu	37	2	86373208	86373208	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86373208A>C	uc002sqz.3	-	14	2034	c.1646T>G	c.(1645-1647)ATC>AGC	p.I549S	IMMT_uc002sqy.3_Missense_Mutation_p.I290S|IMMT_uc002srb.3_Missense_Mutation_p.I538S|IMMT_uc002sra.3_Missense_Mutation_p.I548S|IMMT_uc010ytd.1_Missense_Mutation_p.I537S|IMMT_uc010yte.1_Missense_Mutation_p.I502S|IMMT_uc002src.1_Missense_Mutation_p.I285S	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	549	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						AGCCTGTTCGATTCCTCTGAG	0.353												
KDM3A	55818	broad.mit.edu	37	2	86693713	86693713	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86693713C>T	uc002sri.3	+	10	1553	c.1226C>T	c.(1225-1227)GCA>GTA	p.A409V	KDM3A_uc010ytj.1_Missense_Mutation_p.A409V|KDM3A_uc010ytk.1_Missense_Mutation_p.A357V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	409					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTTCCACAAGCATTGACTGGC	0.453												
RMND5A	64795	broad.mit.edu	37	2	86992214	86992214	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86992214A>G	uc010ytm.1	+	5	963	c.586A>G	c.(586-588)AGA>GGA	p.R196G	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R196G	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	196	CTLH.									ovary(1)|skin(1)	2						TAAGCTACACAGACTGTATTT	0.363												
ZNF514	84874	broad.mit.edu	37	2	95815928	95815928	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:95815928T>C	uc002sue.1	-	5	676	c.302A>G	c.(301-303)GAA>GGA	p.E101G	ZNF514_uc002sud.1_Missense_Mutation_p.E174G	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGTGTTTTTCCACTGATAC	0.413												
GPAT2	150763	broad.mit.edu	37	2	96697827	96697827	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:96697827C>T	uc002svf.2	-	3	354	c.131G>A	c.(130-132)CGC>CAC	p.R44H	GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.R44H|GPAT2_uc002svh.2_Missense_Mutation_p.R44H	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	44					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CACAAAGGGGCGATACTTCCC	0.597												
ITPRIPL1	150771	broad.mit.edu	37	2	96992973	96992973	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:96992973C>T	uc002svx.2	+	3	939	c.604C>T	c.(604-606)CGG>TGG	p.R202W	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.R194W|ITPRIPL1_uc002svy.2_Missense_Mutation_p.R210W|ITPRIPL1_uc010yul.1_Missense_Mutation_p.R194W	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	202	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						TGAGGCCTGTCGGGTGCTCAG	0.532												
NCAPH	23397	broad.mit.edu	37	2	97007608	97007608	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:97007608G>A	uc002svz.1	+	2	332	c.248G>A	c.(247-249)CGC>CAC	p.R83H	NCAPH_uc010fhu.1_Missense_Mutation_p.R59H|NCAPH_uc010fhv.1_Missense_Mutation_p.R72H|NCAPH_uc010yum.1_Missense_Mutation_p.R59H|NCAPH_uc010fhw.1_Missense_Mutation_p.R72H|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	83					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				GACTCACCTCGCTTATTGGCC	0.587												
ANKRD36B	57730	broad.mit.edu	37	2	98201579	98201579	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:98201579G>T	uc010yvc.1	-	3	558	c.278C>A	c.(277-279)GCT>GAT	p.A93D	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	93	ANK 3.										0						CAGTTGTACAGCCTGTCAGTA	0.428												
REV1	51455	broad.mit.edu	37	2	100022521	100022521	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100022521A>G	uc002tad.2	-	17	2874	c.2662T>C	c.(2662-2664)TGC>CGC	p.C888R	REV1_uc002tac.2_Missense_Mutation_p.C887R	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	888					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						AAGAAAGTGCAAGTTCTAGAA	0.443								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
REV1	51455	broad.mit.edu	37	2	100029342	100029342	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100029342T>G	uc002tad.2	-	13	2235	c.2023A>C	c.(2023-2025)ACC>CCC	p.T675P	REV1_uc002tac.2_Missense_Mutation_p.T674P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	675					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						TTTGCCATGGTCATATACTGC	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
REV1	51455	broad.mit.edu	37	2	100038096	100038096	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100038096C>T	uc002tad.2	-	11	1908	c.1696G>A	c.(1696-1698)GCT>ACT	p.A566T	REV1_uc002tac.2_Missense_Mutation_p.A565T	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	566	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CAACTGACAGCTTCAATGTTA	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SLC9A4	389015	broad.mit.edu	37	2	103095325	103095325	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:103095325G>A	uc002tbz.3	+	2	741	c.284G>A	c.(283-285)GGC>GAC	p.G95D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	95	Helical; Name=C/M3; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AGGCTGCCAGGCCTCATGCCA	0.587												
SLC9A2	6549	broad.mit.edu	37	2	103322334	103322334	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:103322334C>A	uc002tca.2	+	11	2149	c.2007C>A	c.(2005-2007)TCC>TCA	p.S669S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	669	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GATATTTATCCTTACCTAAAA	0.289												
SLC5A7	60482	broad.mit.edu	37	2	108625008	108625008	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:108625008G>T	uc002tdv.2	+	8	1259	c.983G>T	c.(982-984)TGC>TTC	p.C328F	SLC5A7_uc010ywm.1_Missense_Mutation_p.C81F|SLC5A7_uc010fjj.2_Missense_Mutation_p.C328F|SLC5A7_uc010ywn.1_Missense_Mutation_p.C215F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	328	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	CAGTATCTCTGCCCTGTGTAT	0.443												
ZC3H6	376940	broad.mit.edu	37	2	113081979	113081979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:113081979C>T	uc002thq.1	+	10	1985	c.1591C>T	c.(1591-1593)CAA>TAA	p.Q531*		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	531	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCCTCAAAATCAAGCTGGAGT	0.532												
IL1RN	3557	broad.mit.edu	37	2	113877668	113877668	+	Silent	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:113877668A>T	uc002tiz.2	+	2	162	c.36A>T	c.(34-36)GGA>GGT	p.G12G	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Intron|IL1RN_uc002tja.2_Intron	NM_173841	NP_776213	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 2	Error:Variant_position_missing_in_P18510_after_alignment					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)	aAGGAGGTGGAGGAGGAGGAG	0.209									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
ERCC3	2071	broad.mit.edu	37	2	128015230	128015230	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:128015230G>A	uc002toh.1	-	15	2386	c.2291C>T	c.(2290-2292)TCG>TTG	p.S764L	ERCC3_uc002toe.1_Missense_Mutation_p.S519L|ERCC3_uc002tof.1_Missense_Mutation_p.S700L|ERCC3_uc002tog.1_Missense_Mutation_p.S700L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	764					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGCTCCGCGATGAGTGGTA	0.582			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
TUBA3E	112714	broad.mit.edu	37	2	130951418	130951418	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:130951418C>T	uc002tqv.2	-	4	1098	c.997G>A	c.(997-999)GCC>ACC	p.A333T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	333					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TTGATGGTGGCGATGGCCGCA	0.547												
ARHGEF4	50649	broad.mit.edu	37	2	131798826	131798826	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:131798826G>A	uc002tsa.1	+	9	1648	c.1128G>A	c.(1126-1128)TCG>TCA	p.S376S	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.S376S|ARHGEF4_uc010fmx.1_Silent_p.S316S|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	376	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGATCTACTCGGAGTACTGCA	0.592												
ARHGEF4	50649	broad.mit.edu	37	2	131803637	131803637	+	Missense_Mutation	SNP	C	C	T	rs61758709	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:131803637C>T	uc002tsa.1	+	14	2468	c.1948C>T	c.(1948-1950)CGC>TGC	p.R650C	ARHGEF4_uc010fmw.1_Missense_Mutation_p.R798C|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R590C|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R193C	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	650					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTACCTGACGCGCCAGAAGCA	0.667												
MGAT5	4249	broad.mit.edu	37	2	135107386	135107386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:135107386C>T	uc002ttv.1	+	9	1268	c.1123C>T	c.(1123-1125)CGA>TGA	p.R375*		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	375	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTGCATGCTCCGAGTCCTTGA	0.423												
LCT	3938	broad.mit.edu	37	2	136546022	136546022	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:136546022C>T	uc002tuu.1	-	17	5667	c.5656G>A	c.(5656-5658)GTT>ATT	p.V1886I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1886	Helical; (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAAAGAGAACGTACAAAGCT	0.517												
LRP1B	53353	broad.mit.edu	37	2	140990876	140990876	+	Missense_Mutation	SNP	G	G	A	rs151022058		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:140990876G>A	uc002tvj.1	-	91	14651	c.13679C>T	c.(13678-13680)CCG>CTG	p.P4560L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4560	Endocytosis signal (Potential).|Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCATATACCGGATTGGAGTA	0.333										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141806673	141806673	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:141806673G>T	uc002tvj.1	-	11	2643	c.1671C>A	c.(1669-1671)AAC>AAA	p.N557K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	557	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCACGAGGGTTTACCAGAT	0.438										TSP Lung(27;0.18)		
MBD5	55777	broad.mit.edu	37	2	149226053	149226053	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:149226053C>T	uc002twm.3	+	9	1529	c.541C>T	c.(541-543)CTA>TTA	p.L181L	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.L181L|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	181						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CATGGGAAGGCTATATGTACA	0.413												
KCNJ3	3760	broad.mit.edu	37	2	155566208	155566208	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:155566208T>C	uc002tyv.1	+	2	991	c.796T>C	c.(796-798)TCC>CCC	p.S266P	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	266	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTTTCTTGTGTCCCCCCTCAC	0.488												
PKP4	8502	broad.mit.edu	37	2	159481795	159481795	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:159481795T>C	uc002tzv.2	+	7	1269	c.1009T>C	c.(1009-1011)TCC>CCC	p.S337P	PKP4_uc002tzt.1_Missense_Mutation_p.S189P|PKP4_uc002tzu.2_Missense_Mutation_p.S337P|PKP4_uc002tzw.2_Missense_Mutation_p.S337P|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.S335P|PKP4_uc002uaa.2_Missense_Mutation_p.S189P	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	337					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						GGGGTCGTCGTCCCCCAAACG	0.587										HNSCC(62;0.18)		
BAZ2B	29994	broad.mit.edu	37	2	160181408	160181408	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:160181408T>C	uc002uao.2	-	36	6619	c.6267A>G	c.(6265-6267)GTA>GTG	p.V2089V	BAZ2B_uc002uap.2_Silent_p.V2053V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2089	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTTCAAGTTTACAGGAAGTA	0.323												
RBMS1	5937	broad.mit.edu	37	2	161223762	161223762	+	Silent	SNP	G	G	A	rs147917487	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:161223762G>A	uc002ubo.2	-	2	660	c.216C>T	c.(214-216)CAC>CAT	p.H72H	RBMS1_uc002ubj.2_Silent_p.H39H|RBMS1_uc002ubk.2_Silent_p.H39H|RBMS1_uc002ubl.2_Silent_p.H70H|RBMS1_uc002ubn.2_Silent_p.H72H|RBMS1_uc002ubi.3_Silent_p.H72H|RBMS1_uc002ubm.2_Silent_p.H39H|RBMS1_uc002ubp.2_Silent_p.H72H|RBMS1_uc010fox.2_Silent_p.H72H	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	72	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						GGTCGGTGGTGTGGGGAGGCA	0.353												
GRB14	2888	broad.mit.edu	37	2	165353779	165353779	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165353779T>C	uc002ucl.2	-	11	1777	c.1236A>G	c.(1234-1236)TTA>TTG	p.L412L	GRB14_uc010zcv.1_Silent_p.L325L|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	412					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						TGCCCAGGCGTAAACATCCTT	0.423												
XIRP2	129446	broad.mit.edu	37	2	168098309	168098309	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:168098309A>G	uc002udx.2	+	7	1083	c.1065A>G	c.(1063-1065)GAA>GAG	p.E355E	XIRP2_uc010fpn.2_Silent_p.E388E|XIRP2_uc010fpo.2_Silent_p.E355E|XIRP2_uc010fpp.2_Silent_p.E355E|XIRP2_uc002udy.2_Silent_p.E180E|XIRP2_uc010fpq.2_Silent_p.E133E|XIRP2_uc010fpr.2_Silent_p.E133E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	180					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGAGGATGAAGAGATTCCAA	0.333												
XIRP2	129446	broad.mit.edu	37	2	168106521	168106521	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:168106521A>G	uc002udx.2	+	8	8637	c.8619A>G	c.(8617-8619)CAA>CAG	p.Q2873Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q2698Q|XIRP2_uc010fpq.2_Silent_p.Q2651Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.Q219Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2698					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGCAAACACAAATACAGACCG	0.393												
LRP2	4036	broad.mit.edu	37	2	170097542	170097542	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170097542C>T	uc002ues.2	-	25	4214	c.4001G>A	c.(4000-4002)GGC>GAC	p.G1334D	LRP2_uc010zdf.1_Missense_Mutation_p.G1197D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1334	LDL-receptor class A 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAAAGATGCCATCACACAC	0.493												
FASTKD1	79675	broad.mit.edu	37	2	170417153	170417153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170417153G>A	uc002uev.3	-	5	1103	c.715C>T	c.(715-717)CGA>TGA	p.R239*	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Nonsense_Mutation_p.R225*|FASTKD1_uc002uey.2_Nonsense_Mutation_p.R202*	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	239					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CTAACATTTCGAAGAAACTTT	0.333												
UBR3	130507	broad.mit.edu	37	2	170897447	170897447	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170897447T>C	uc010zdi.1	+	32	4612	c.4612T>C	c.(4612-4614)TCC>CCC	p.S1538P	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.S359P|UBR3_uc002uft.3_Missense_Mutation_p.S395P|UBR3_uc010zdj.1_Missense_Mutation_p.S229P|UBR3_uc002ufu.3_Missense_Mutation_p.S44P	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1538					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TGATGTAACATCCCTTTTGCT	0.323												
TTN	7273	broad.mit.edu	37	2	179411522	179411522	+	Missense_Mutation	SNP	G	G	A	rs145099448	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179411522G>A	uc010zfg.1	-	290	87153	c.86929C>T	c.(86929-86931)CGT>TGT	p.R28977C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22672C|TTN_uc010zfi.1_Missense_Mutation_p.R22605C|TTN_uc010zfj.1_Missense_Mutation_p.R22480C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29904							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)			ACTGGCTTACGCTCTATGATG	0.498												
TTN	7273	broad.mit.edu	37	2	179441417	179441417	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179441417C>T	uc010zfg.1	-	274	62074	c.61850G>A	c.(61849-61851)CGA>CAA	p.R20617Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14312Q|TTN_uc010zfi.1_Missense_Mutation_p.R14245Q|TTN_uc010zfj.1_Missense_Mutation_p.R14120Q|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21544							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)			TCTCACCCATCGCAGGCTTTT	0.463												
TTN	7273	broad.mit.edu	37	2	179590542	179590542	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179590542T>C	uc010zfg.1	-	67	16999	c.16775A>G	c.(16774-16776)CAG>CGG	p.Q5592R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2253R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6519							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)			CACTTCATTCTGTGCTTTGCA	0.373												
TTN	7273	broad.mit.edu	37	2	179590718	179590718	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179590718T>C	uc010zfg.1	-	67	16823	c.16599A>G	c.(16597-16599)GAA>GAG	p.E5533E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E2194E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6460							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)			CAAGACTGACTTCAGCATTTT	0.413												
TTN	7273	broad.mit.edu	37	2	179612257	179612257	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179612257T>G	uc002unb.2	-	46	15094	c.14870A>C	c.(14869-14871)GAA>GCA	p.E4957A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTAGTGATTCCTGTTTCTG	0.418												
TTN	7273	broad.mit.edu	37	2	179612262	179612262	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179612262T>A	uc002unb.2	-	46	15089	c.14865A>T	c.(14863-14865)AAA>AAT	p.K4955N	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATTCCTGTTTCTGGTTGT	0.413												
TTN	7273	broad.mit.edu	37	2	179615191	179615191	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179615191T>A	uc002unb.2	-	46	12160	c.11936A>T	c.(11935-11937)AAC>ATC	p.N3979I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATTGTTATACCACGT	0.328												
TTN	7273	broad.mit.edu	37	2	179621109	179621109	+	Silent	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179621109T>A	uc010zfh.1	-	44	10805	c.10581A>T	c.(10579-10581)GCA>GCT	p.A3527A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTATCTTTGCACCTTCGT	0.403												
TTN	7273	broad.mit.edu	37	2	179669352	179669352	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179669352C>T	uc002und.2	-	2	243	c.18G>A	c.(16-18)CCG>CCA	p.P6P	TTN_uc010zfg.1_Silent_p.P6P|TTN_uc010zfh.1_Silent_p.P6P|TTN_uc010zfi.1_Silent_p.P6P|TTN_uc010zfj.1_Silent_p.P6P|TTN_uc002unb.2_Silent_p.P6P			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	6							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)			GCGTAAACGTCGGTGCTTGAG	0.463												
CWC22	57703	broad.mit.edu	37	2	180823790	180823790	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:180823790C>T	uc010frh.1	-	14	1717	c.1417G>A	c.(1417-1419)GCT>ACT	p.A473T	CWC22_uc002uno.2_5'UTR|CWC22_uc002unp.2_Missense_Mutation_p.A473T	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	473	MI.					catalytic step 2 spliceosome	protein binding|RNA binding				0						AATTTGTGAGCACATTCTTCA	0.299												
ZC3H15	55854	broad.mit.edu	37	2	187373387	187373387	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:187373387A>G	uc002upo.2	+	10	1433	c.1208A>G	c.(1207-1209)GAT>GGT	p.D403G		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	403						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTCCTGTTGATGAAAATCTT	0.403												
FAM171B	165215	broad.mit.edu	37	2	187605148	187605148	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:187605148C>T	uc002ups.2	+	2	544	c.432C>T	c.(430-432)TAC>TAT	p.Y144Y	FAM171B_uc002upr.1_Silent_p.Y144Y	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	144	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AAGATGGCTACGTGTTGACCC	0.338												
GTF3C3	9330	broad.mit.edu	37	2	197629314	197629314	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:197629314C>T	uc002uts.2	-	18	2724	c.2634G>A	c.(2632-2634)ACG>ACA	p.T878T	GTF3C3_uc010zgu.1_Silent_p.T849T	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	878						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TATACAAAAGCGTTTGAGCCA	0.443												
PLCL1	5334	broad.mit.edu	37	2	198966086	198966086	+	Splice_Site	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:198966086T>A	uc010fsp.2	+	4	3286	c.2995_splice	c.e4+2	p.G999_splice	PLCL1_uc002uuv.3_Splice_Site_p.G920_splice	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;						intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AGAAAGCAGGTAAttgttttt	0.274												
ORC2L	4999	broad.mit.edu	37	2	201798663	201798663	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201798663C>A	uc002uwr.2	-	10	1000	c.743G>T	c.(742-744)AGC>ATC	p.S248I	ORC2L_uc010zhj.1_Missense_Mutation_p.S248I	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	248					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						TTTTGAACTGCTGTGAGCTTC	0.338												
MPP4	58538	broad.mit.edu	37	2	202552029	202552029	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:202552029C>A	uc002uyk.3	-	5	553	c.345G>T	c.(343-345)CAG>CAT	p.Q115H	MPP4_uc010ftj.2_Missense_Mutation_p.Q115H|MPP4_uc010zhq.1_Missense_Mutation_p.Q115H|MPP4_uc010zhr.1_Missense_Mutation_p.Q115H|MPP4_uc010zhs.1_Missense_Mutation_p.Q115H|MPP4_uc002uyj.3_Missense_Mutation_p.Q115H|MPP4_uc010zht.1_Intron|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q115H|MPP4_uc002uym.1_Missense_Mutation_p.Q128H|MPP4_uc002uyn.2_Missense_Mutation_p.Q115H	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	115	L27 2.					cytoplasm	protein binding				0						AGTGTGGAGCCTGGAGCATTT	0.413												
ALS2	57679	broad.mit.edu	37	2	202622177	202622177	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:202622177T>C	uc002uyo.2	-	5	1775	c.1419A>G	c.(1417-1419)GAA>GAG	p.E473E	ALS2_uc002uyp.3_Silent_p.E473E|ALS2_uc002uyq.2_Silent_p.E473E	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	473					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						CCTCTGTTTCTTCTTCTCTGA	0.438												
ABI2	10152	broad.mit.edu	37	2	204255835	204255835	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:204255835A>G	uc002vaa.2	+	5	782	c.547A>G	c.(547-549)AGT>GGT	p.S183G	ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.S177G|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.S177G|ABI2_uc010zij.1_Missense_Mutation_p.S121G|ABI2_uc002vab.2_Missense_Mutation_p.S132G|ABI2_uc010zik.1_Missense_Mutation_p.S18G|ABI2_uc010zil.1_Missense_Mutation_p.S18G|ABI2_uc010zim.1_Missense_Mutation_p.S18G|ABI2_uc002vac.2_Missense_Mutation_p.S18G	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	183	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						GAAGCCCCCTAGTCCCCCTAT	0.408												
NRP2	8828	broad.mit.edu	37	2	206607957	206607957	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:206607957T>C	uc002vaw.2	+	9	2113	c.1322T>C	c.(1321-1323)CTC>CCC	p.L441P	NRP2_uc002vat.2_Missense_Mutation_p.L441P|NRP2_uc002vau.2_Missense_Mutation_p.L441P|NRP2_uc002vav.2_Missense_Mutation_p.L441P|NRP2_uc002vax.2_Missense_Mutation_p.L441P|NRP2_uc002vay.2_Missense_Mutation_p.L441P|NRP2_uc010fud.2_Missense_Mutation_p.L441P	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	441	Extracellular (Potential).|F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGGGATGCTCTCAGGCCTC	0.602												
FZD5	7855	broad.mit.edu	37	2	208633251	208633251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208633251C>T	uc002vcj.2	-	2	623	c.213G>A	c.(211-213)TGG>TGA	p.W71*		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	71	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CCACCAGCGGCCAGAACTGGT	0.632												
FZD5	7855	broad.mit.edu	37	2	208633259	208633259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208633259G>A	uc002vcj.2	-	2	615	c.205C>T	c.(205-207)CAG>TAG	p.Q69*		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	69	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCCAGAACTGGTGCACCTCC	0.617												
PLEKHM3	389072	broad.mit.edu	37	2	208841408	208841408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208841408G>A	uc002vcl.2	-	3	2003	c.1513C>T	c.(1513-1515)CGA>TGA	p.R505*	PLEKHM3_uc002vcm.2_Nonsense_Mutation_p.R505*	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	505					intracellular signal transduction		metal ion binding			ovary(1)	1						GTGAGTCCTCGTTCCAAAGAC	0.443												
CRYGA	1418	broad.mit.edu	37	2	209025753	209025753	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:209025753G>A	uc002vcq.3	-	3	317	c.300C>T	c.(298-300)GGC>GGT	p.G100G		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	100	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGACATAAGGCCTCGGTAGT	0.502												
MAP2	4133	broad.mit.edu	37	2	210559300	210559300	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:210559300G>T	uc002vde.1	+	7	2654	c.2406G>T	c.(2404-2406)ATG>ATT	p.M802I	MAP2_uc002vdc.1_Missense_Mutation_p.M802I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.M798I	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	802					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)	GTACTGTCATGGCACCTGACC	0.448												
ATIC	471	broad.mit.edu	37	2	216198174	216198174	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:216198174G>A	uc002vex.3	+	9	1090	c.916G>A	c.(916-918)GCA>ACA	p.A306T	ATIC_uc010zjo.1_Missense_Mutation_p.A247T|ATIC_uc002vey.3_Missense_Mutation_p.A305T	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	306					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ATATGCAAGAGCAAGAGGTCA	0.383			T	ALK	ALCL							
FN1	2335	broad.mit.edu	37	2	216251612	216251612	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:216251612G>A	uc002vfa.2	-	28	4678	c.4412C>T	c.(4411-4413)GCT>GTT	p.A1471V	FN1_uc002vfb.2_Missense_Mutation_p.A1380V|FN1_uc002vfc.2_Missense_Mutation_p.A1380V|FN1_uc002vfd.2_Missense_Mutation_p.A1471V|FN1_uc002vfe.2_Missense_Mutation_p.A1380V|FN1_uc002vff.2_Missense_Mutation_p.A1380V|FN1_uc002vfg.2_Missense_Mutation_p.A1380V|FN1_uc002vfh.2_Missense_Mutation_p.A1380V|FN1_uc002vfi.2_Missense_Mutation_p.A1471V|FN1_uc002vfj.2_Missense_Mutation_p.A1471V|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.A98V	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1470	Fibronectin type-III 10.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGAGGAGCAATCCAGTG	0.527												
TNS1	7145	broad.mit.edu	37	2	218700768	218700768	+	Silent	SNP	G	G	A	rs61743061	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:218700768G>A	uc002vgt.2	-	18	3197	c.2799C>T	c.(2797-2799)ATC>ATT	p.I933I	TNS1_uc002vgr.2_Silent_p.I933I|TNS1_uc002vgs.2_Silent_p.I933I|TNS1_uc010zjv.1_Silent_p.I933I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	933						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATTGAGAGCGATGGTAAGAG	0.562												
CCDC108	255101	broad.mit.edu	37	2	219895549	219895549	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:219895549G>A	uc002vjl.1	-	9	1107	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.C330C|CCDC108_uc010zkq.1_Silent_p.C276C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	341						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGGCGCACTTGGCTG	0.637												
STK16	8576	broad.mit.edu	37	2	220112985	220112985	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220112985A>G	uc002vko.2	+	7	885	c.728A>G	c.(727-729)GAC>GGC	p.D243G	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.D125G|STK16_uc002vkp.2_Missense_Mutation_p.D243G|STK16_uc002vkr.2_Missense_Mutation_p.D176G|STK16_uc002vkq.2_Missense_Mutation_p.D288G	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	243	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAAAGGGTGACAGTGTGGCC	0.522												
CHPF	79586	broad.mit.edu	37	2	220404779	220404779	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220404779G>A	uc002vmc.3	-	4	1881	c.1654C>T	c.(1654-1656)CGC>TGC	p.R552C	CHPF_uc010zlh.1_Missense_Mutation_p.R390C	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	552	Lumenal (Potential).|Ala-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGCCTGGCGCGGCTCATAC	0.677												
TMEM198	130612	broad.mit.edu	37	2	220409549	220409549	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220409549T>C	uc002vme.2	+	3	685	c.100T>C	c.(100-102)TAC>CAC	p.Y34H	CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmc.3_5'Flank|CHPF_uc002vmd.3_5'Flank|TMEM198_uc002vmf.2_Missense_Mutation_p.Y34H	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	34						integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAGCGCAGGTACCAGGCACT	0.607												
OBSL1	23363	broad.mit.edu	37	2	220432804	220432804	+	Missense_Mutation	SNP	G	G	A	rs79295927		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220432804G>A	uc010fwk.2	-	2	1312	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R419C|OBSL1_uc002vmj.2_Missense_Mutation_p.R6C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	419	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCACGGTGCGCACCCGGCCC	0.617											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SERPINE2	5270	broad.mit.edu	37	2	224866442	224866442	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:224866442G>A	uc002vnu.2	-	2	419	c.176C>T	c.(175-177)GCG>GTG	p.A59V	SERPINE2_uc002vnt.2_Missense_Mutation_p.A59V|SERPINE2_uc010zlr.1_Missense_Mutation_p.A71V|SERPINE2_uc002vnv.2_Missense_Mutation_p.A59V	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	59					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAGGACCGACGCAATCCCATG	0.557												
IRS1	3667	broad.mit.edu	37	2	227662389	227662389	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:227662389C>T	uc002voh.3	-	1	1118	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	356	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCCGGTGGGCGTGGGTTCTG	0.721											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPHKAP	80309	broad.mit.edu	37	2	228882351	228882351	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:228882351G>A	uc002vpq.2	-	7	3266	c.3219C>T	c.(3217-3219)GAC>GAT	p.D1073D	SPHKAP_uc002vpp.2_Silent_p.D1073D|SPHKAP_uc010zlx.1_Silent_p.D1073D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1073						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCTCCACCTGTCGCCACTCA	0.582												
TRIP12	9320	broad.mit.edu	37	2	230642151	230642151	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:230642151C>T	uc002vpw.1	-	36	5293	c.5184G>A	c.(5182-5184)CGG>CGA	p.R1728R	TRIP12_uc002vpx.1_Silent_p.R1776R|TRIP12_uc002vpy.1_Silent_p.R1458R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1728					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAGTTTCTTGCCGTAGCATCC	0.413												
C2orf57	165100	broad.mit.edu	37	2	232458553	232458553	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:232458553C>T	uc002vrz.2	+	1	942	c.891C>T	c.(889-891)TCC>TCT	p.S297S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	297										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TGGTGTGGTCCGAGACCACCA	0.647												
ECEL1	9427	broad.mit.edu	37	2	233348859	233348859	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:233348859G>A	uc002vsv.2	-	7	1464	c.1259C>T	c.(1258-1260)GCA>GTA	p.A420V	ECEL1_uc010fya.1_Missense_Mutation_p.A420V|ECEL1_uc010fyb.1_Missense_Mutation_p.A127V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	420	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCGTGCAGTGCCTCACGGAA	0.647												
DNAJB3	414061	broad.mit.edu	37	2	234652528	234652528	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:234652528C>A	uc002vuz.2	-	1	134	c.35G>T	c.(34-36)CGG>CTG	p.R12L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	12	J.				protein folding		heat shock protein binding|unfolded protein binding				0						TGAGGCCTGCCGGGGCACGTC	0.642												
AGAP1	116987	broad.mit.edu	37	2	237032595	237032595	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:237032595C>T	uc002vvs.2	+	18	2998	c.2403C>T	c.(2401-2403)CAC>CAT	p.H801H	AGAP1_uc002vvt.2_Silent_p.H748H	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	801	ANK 2.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAGATGCCCACGGGAACACAG	0.647												
CXCR7	57007	broad.mit.edu	37	2	237489456	237489456	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:237489456G>A	uc010fyq.2	+	3	578	c.348G>A	c.(346-348)ACG>ACA	p.T116T	CXCR7_uc002vwd.2_Silent_p.T116T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	116	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCGAGCTCACGTGCAAAGTCA	0.562												
PER2	8864	broad.mit.edu	37	2	239186494	239186494	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:239186494C>T	uc002vyc.2	-	2	321	c.84G>A	c.(82-84)CTG>CTA	p.L28L	PER2_uc010znv.1_Silent_p.L28L|PER2_uc010znw.1_Silent_p.L28L|PER2_uc010fyx.1_Silent_p.L28L	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	28					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CATCTTCCTGCAGTGGGACCT	0.617												
ASB1	51665	broad.mit.edu	37	2	239344354	239344354	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:239344354G>A	uc002vyg.2	+	3	280	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	65	ANK 1.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCTGCAGCCGCATCAACGAG	0.652												
GPC1	2817	broad.mit.edu	37	2	241401788	241401788	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:241401788G>A	uc002vyw.3	+	3	727	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	169					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTCTGGGCCCGCCTGCTCGAG	0.677												
ANKMY1	51281	broad.mit.edu	37	2	241468876	241468876	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:241468876G>A	uc002vyz.1	-	4	493	c.264C>T	c.(262-264)CCC>CCT	p.P88P	ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.P177P|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88	MORN 3.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602												
ING5	84289	broad.mit.edu	37	2	242662669	242662669	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:242662669G>A	uc002wcd.2	+	7	688	c.663G>A	c.(661-663)ACG>ACA	p.T221T		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	221	PHD-type.				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ACCTTACCACGAAACCCAAAG	0.532												
SIRPB1	10326	broad.mit.edu	37	20	1559137	1559137	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:1559137C>T	uc010gai.2	-	2	379	c.280G>A	c.(280-282)GAA>AAA	p.E94K	SIRPB1_uc002wfk.3_Missense_Mutation_p.E94K	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	94	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						TTTGTGAGTTCTGAAACAGTT	0.512												
TGM3	7053	broad.mit.edu	37	20	2308960	2308960	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:2308960G>C	uc002wfx.3	+	9	1379	c.1282G>C	c.(1282-1284)GTG>CTG	p.V428L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	428					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CACCAAGGCGGTGGGCAGCAA	0.577												
CPXM1	56265	broad.mit.edu	37	20	2777036	2777036	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:2777036G>A	uc002wgu.2	-	9	1163	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	CPXM1_uc010gas.2_Missense_Mutation_p.R367W	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	367					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						AGCAACTCCCGCCCCAGGGCC	0.652												
SLC4A11	83959	broad.mit.edu	37	20	3212106	3212106	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3212106C>T	uc002wig.2	-	7	914	c.866G>A	c.(865-867)CGC>CAC	p.R289H	SLC4A11_uc010zqe.1_Missense_Mutation_p.R316H|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R273H	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	289	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						CTCCTCTGTGCGGGTCTCCAG	0.592												
C20orf194	25943	broad.mit.edu	37	20	3329232	3329232	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3329232G>A	uc002wii.2	-	8	780	c.729C>T	c.(727-729)TTC>TTT	p.F243F	C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	243											0						CAAAATTAGCGAAGAAGCTAG	0.388												
CDC25B	994	broad.mit.edu	37	20	3782594	3782594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3782594C>A	uc002wjn.2	+	10	1723	c.945C>A	c.(943-945)TGC>TGA	p.C315*	CDC25B_uc010zqk.1_Nonsense_Mutation_p.C251*|CDC25B_uc010zql.1_Nonsense_Mutation_p.C237*|CDC25B_uc010zqm.1_Nonsense_Mutation_p.C224*|CDC25B_uc002wjl.2_Nonsense_Mutation_p.C203*|CDC25B_uc002wjm.2_Nonsense_Mutation_p.C203*|CDC25B_uc002wjo.2_Nonsense_Mutation_p.C301*|CDC25B_uc002wjp.2_Nonsense_Mutation_p.C274*|CDC25B_uc002wjq.2_Nonsense_Mutation_p.C115*|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	315					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						ACAGCAAGTGCCAGCGGCTCT	0.637												
CHGB	1114	broad.mit.edu	37	20	5903916	5903916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:5903916C>T	uc002wmg.2	+	4	1432	c.1126C>T	c.(1126-1128)CAG>TAG	p.Q376*	CHGB_uc010zqz.1_Nonsense_Mutation_p.Q59*	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	376						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TCCAAGACCTCAGAGTGAGGA	0.512												
PLCB1	23236	broad.mit.edu	37	20	8755367	8755367	+	Splice_Site	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:8755367G>A	uc002wnb.2	+	27	3114	c.3111_splice	c.e27+1	p.L1037_splice	PLCB1_uc010zrb.1_Splice_Site_p.L936_splice|PLCB1_uc002wna.2_Splice_Site_p.L1037_splice|PLCB1_uc002wnc.1_Splice_Site_p.L936_splice|PLCB1_uc002wnd.1_Splice_Site_p.L614_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1						activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TATTAAACTGGTGAGCCTGAG	0.388												
ISM1	140862	broad.mit.edu	37	20	13279916	13279916	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:13279916C>T	uc010gce.1	+	6	1211	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	402	AMOP.					extracellular region					0						GGGGCGGGCACGCCCAACCTC	0.622												
MACROD2	140733	broad.mit.edu	37	20	15948247	15948247	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:15948247T>C	uc002wou.2	+	13	1221	c.957T>C	c.(955-957)CAT>CAC	p.H319H	MACROD2_uc002wot.2_Silent_p.H319H|MACROD2_uc002woz.2_Silent_p.H84H|MACROD2_uc002wpb.2_Silent_p.H84H	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	319	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGACAGATCATTCTGTGCGTG	0.343												
CSRP2BP	57325	broad.mit.edu	37	20	18143418	18143418	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:18143418G>A	uc002wqj.2	+	7	2122	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	CSRP2BP_uc002wqk.2_Silent_p.A372A|CSRP2BP_uc010zru.1_Silent_p.A371A	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	500					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TCAGACAAGCGAAAAGGGATA	0.468												
GZF1	64412	broad.mit.edu	37	20	23346237	23346237	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:23346237G>A	uc010gdb.2	+	3	1391	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	GZF1_uc002wsy.2_Missense_Mutation_p.R406Q|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.R406Q	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	406					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGCGGCGAGCGGCACCGCTGC	0.677												
ABHD12	26090	broad.mit.edu	37	20	25300924	25300924	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:25300924G>A	uc002wus.1	-	4	591	c.453C>T	c.(451-453)AAC>AAT	p.N151N	ABHD12_uc002wuq.2_Silent_p.N151N|ABHD12_uc002wur.2_Silent_p.N151N|ABHD12_uc002wut.1_Silent_p.N151N|ABHD12_uc002wuu.1_Intron	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	151	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1						TGCCTTGGGCGTTCTTCCACC	0.582												
NINL	22981	broad.mit.edu	37	20	25456719	25456719	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:25456719G>A	uc002wux.1	-	17	3282	c.3208C>T	c.(3208-3210)CGG>TGG	p.R1070W	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1070	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCAGAGCCCGGACGACGTCT	0.463												
FOXS1	2307	broad.mit.edu	37	20	30432967	30432967	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:30432967C>T	uc002wwt.1	-	1	454	c.379G>A	c.(379-381)GCC>ACC	p.A127T		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	127					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding			ovary(1)	1						CGTGCCTTGGCGGGGCCCCGG	0.701												
C20orf186	149954	broad.mit.edu	37	20	31671314	31671314	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:31671314G>A	uc010zue.1	+	3	326	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	104						cytoplasm|extracellular region	lipid binding				0						GGCAAATACCGATATGGTGAG	0.537												
ITCH	83737	broad.mit.edu	37	20	33068914	33068914	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:33068914G>A	uc010geu.1	+	21	2311	c.2119G>A	c.(2119-2121)GTT>ATT	p.V707I	ITCH_uc002xak.2_Missense_Mutation_p.V666I|ITCH_uc010zuj.1_Missense_Mutation_p.V556I	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	707	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						GTACTTCTCCGTTGACAAAGA	0.318												
NCOA6	23054	broad.mit.edu	37	20	33330511	33330511	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:33330511T>C	uc002xav.2	-	12	6120	c.3549A>G	c.(3547-3549)CAA>CAG	p.Q1183Q	NCOA6_uc002xaw.2_Silent_p.Q1183Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1183	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TTACAGGGGGTTGCTGGGGAG	0.547												
CEP250	11190	broad.mit.edu	37	20	34059927	34059927	+	Missense_Mutation	SNP	C	C	T	rs116166982	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:34059927C>T	uc002xcm.2	+	12	1672	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	334	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGTAGGAATGCGCAAGAGGAG	0.458												
C20orf132	140699	broad.mit.edu	37	20	35783525	35783525	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:35783525G>A	uc010zvu.1	-	11	1136	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.R349W|C20orf132_uc002xgn.2_Intron	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		Myeloproliferative disorder(115;0.00878)				GCCGTGGCCCGTTCCCGCTCA	0.502												
CHD6	84181	broad.mit.edu	37	20	40122502	40122502	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:40122502C>A	uc002xka.1	-	9	1353	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	CHD6_uc002xkd.2_Missense_Mutation_p.G370V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	392	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ACCCACCTCCCCTGTTTCTGC	0.458												
CHD6	84181	broad.mit.edu	37	20	40143482	40143482	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:40143482G>A	uc002xka.1	-	4	842	c.664C>T	c.(664-666)CGG>TGG	p.R222W	CHD6_uc002xkd.2_Missense_Mutation_p.R200W|CHD6_uc002xkc.2_Missense_Mutation_p.R257W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	222					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCAGGACTCCGCAGAGATGGG	0.537												
PTPRT	11122	broad.mit.edu	37	20	41408874	41408874	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:41408874G>A	uc002xkg.2	-	4	736	c.552C>T	c.(550-552)GTC>GTT	p.V184V	PTPRT_uc010ggj.2_Silent_p.V184V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	184	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGAGCAAGGACCCGGACCT	0.517												
STK4	6789	broad.mit.edu	37	20	43703810	43703810	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:43703810A>C	uc002xnb.2	+	11	1547	c.1457A>C	c.(1456-1458)AAC>ACC	p.N486T	STK4_uc010ggx.2_3'UTR|STK4_uc010ggy.2_Missense_Mutation_p.N431T	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	486					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CGGCAACAAAACTTCTGAGCA	0.552												
ZNFX1	57169	broad.mit.edu	37	20	47865238	47865238	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:47865238G>A	uc002xui.2	-	14	4570	c.4323C>T	c.(4321-4323)TGC>TGT	p.C1441C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1441	NF-X1-type 4.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGATGCCCGCAGTCCAAGA	0.557												
ADNP	23394	broad.mit.edu	37	20	49508350	49508350	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49508350G>A	uc002xvt.1	-	5	3246	c.2901C>T	c.(2899-2901)GAC>GAT	p.D967D	ADNP_uc002xvu.1_Silent_p.D967D	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	967						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GAGAAGCACCGTCTTTCCACT	0.453												
ATP9A	10079	broad.mit.edu	37	20	50245609	50245609	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:50245609A>G	uc002xwg.1	-	16	1671	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	ATP9A_uc010gih.1_Silent_p.D421D|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	557	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CAGTTGATTCATCCTAGAGAG	0.483												
ZFP64	55734	broad.mit.edu	37	20	50768713	50768713	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:50768713A>T	uc002xwl.2	-	6	2367	c.2018T>A	c.(2017-2019)CTC>CAC	p.L673H	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.L671H|ZFP64_uc002xwn.2_Missense_Mutation_p.L619H	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCGGGACAGAGCAAAGCTGG	0.488												
CSTF1	1477	broad.mit.edu	37	20	54972482	54972482	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:54972482C>T	uc002xxl.1	+	3	589	c.389C>T	c.(388-390)GCT>GTT	p.A130V	CSTF1_uc002xxm.1_Missense_Mutation_p.A130V|CSTF1_uc002xxn.1_Missense_Mutation_p.A130V|CSTF1_uc002xxo.1_Missense_Mutation_p.A73V	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	130	WD 1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TCTGCTGATGCTTCGATAAAG	0.413												
GNAS	2778	broad.mit.edu	37	20	57485424	57485424	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:57485424C>T	uc002xzw.2	+	12	3220	c.2935C>T	c.(2935-2937)CGG>TGG	p.R979W	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R277W|GNAS_uc002xzx.2_Missense_Mutation_p.R277W|GNAS_uc010gjr.2_Missense_Mutation_p.R227W|GNAS_uc002xzy.2_Missense_Mutation_p.R262W|GNAS_uc002yaa.2_Missense_Mutation_p.R322W|GNAS_uc010zzt.1_Missense_Mutation_p.R337W|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R227W|GNAS_uc002yae.2_Missense_Mutation_p.R261W	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	336					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGTGACCCGGGCCAAGTA	0.443			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
PPP1R3D	5509	broad.mit.edu	37	20	58514315	58514315	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:58514315G>A	uc002ybb.2	-	1	1038	c.672C>T	c.(670-672)CGC>CGT	p.R224R	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	224	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTGCGGGCCCGCGCCACCGCG	0.692												
CDH4	1002	broad.mit.edu	37	20	60499487	60499487	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60499487A>G	uc002ybn.1	+	11	1738	c.1724A>G	c.(1723-1725)TAC>TGC	p.Y575C	CDH4_uc002ybp.1_Missense_Mutation_p.Y501C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	575	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAGTCCCTCTACACCAAAAAC	0.627												
HRH3	11255	broad.mit.edu	37	20	60791877	60791877	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60791877C>T	uc002ycf.2	-	3	820	c.523G>A	c.(523-525)GAG>AAG	p.E175K	HRH3_uc002ycg.2_Missense_Mutation_p.E175K|HRH3_uc002ych.2_Missense_Mutation_p.E175K|HRH3_uc002yci.2_Missense_Mutation_p.E175K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	175	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GACAGGTACTCCCAGCTCAGG	0.627												
YTHDF1	54915	broad.mit.edu	37	20	61833652	61833652	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61833652T>A	uc002yeh.2	-	4	1934	c.1640A>T	c.(1639-1641)GAG>GTG	p.E547V	YTHDF1_uc011aaq.1_Missense_Mutation_p.E497V	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										ovary(2)	2						GCGCACCACCTCCTCCTCCTC	0.552												
YTHDF1	54915	broad.mit.edu	37	20	61845261	61845261	+	Silent	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61845261A>C	uc002yeh.2	-	3	381	c.87T>G	c.(85-87)GTT>GTG	p.V29V		NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	29										ovary(2)	2						CATTGTCATGAACTGTATCCT	0.313												
CHRNA4	1137	broad.mit.edu	37	20	61981128	61981128	+	Silent	SNP	C	C	T	rs121912283		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61981128C>T	uc002yes.2	-	5	1813	c.1635G>A	c.(1633-1635)ACG>ACA	p.T545T	CHRNA4_uc002yet.1_Silent_p.T369T|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.T474T|CHRNA4_uc002yev.1_Silent_p.T369T|CHRNA4_uc010gkf.1_Silent_p.T369T	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	545	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGTCTTGACCGTGGCGCTCG	0.682												
GMEB2	26205	broad.mit.edu	37	20	62223462	62223462	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62223462C>A	uc002yfp.1	-	8	1344	c.865G>T	c.(865-867)GGC>TGC	p.G289C	GMEB2_uc002yfo.1_Missense_Mutation_p.G211C|GMEB2_uc002yfq.1_Missense_Mutation_p.G289C	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	289					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCAGCATGCCGAAGTTCTGC	0.597												
ZBTB46	140685	broad.mit.edu	37	20	62407140	62407140	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62407140G>A	uc002ygv.1	-	3	1314	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TGAGCGCCGCGCGCAGGTTGG	0.667												
ZBTB46	140685	broad.mit.edu	37	20	62421310	62421310	+	Silent	SNP	C	C	T	rs116858325	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62421310C>T	uc002ygv.1	-	2	1002	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCTTCGGCCCGTGGGCTGCC	0.607												
DNAJC5	80331	broad.mit.edu	37	20	62559804	62559804	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62559804C>T	uc002yhf.2	+	2	276	c.106C>T	c.(106-108)CGG>TGG	p.R36W	DNAJC5_uc002yhg.1_Missense_Mutation_p.R36W|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	36	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCCTATCGGTAAGTGGA	0.498												
MYT1	4661	broad.mit.edu	37	20	62871228	62871228	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62871228G>C	uc002yii.2	+	22	3573	c.3209G>C	c.(3208-3210)AGT>ACT	p.S1070T	MYT1_uc002yij.2_Missense_Mutation_p.S729T|MYT1_uc002yik.2_Missense_Mutation_p.S36T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1070					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCATCCAAAGTCTCGCCAAT	0.602												
RBM11	54033	broad.mit.edu	37	21	15591970	15591970	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:15591970A>C	uc002yjo.3	+	2	225	c.183A>C	c.(181-183)GAA>GAC	p.E61D	RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	61	RRM.						nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AACACCCAGAATCGGTGTCTT	0.403												
NCAM2	4685	broad.mit.edu	37	21	22664432	22664432	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:22664432G>A	uc002yld.1	+	5	739	c.490G>A	c.(490-492)GCT>ACT	p.A164T	NCAM2_uc011acb.1_Missense_Mutation_p.A22T|NCAM2_uc011acc.1_Missense_Mutation_p.A189T	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	164	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATCGGTTCGCTATGTTAGC	0.393												
ADAMTS5	11096	broad.mit.edu	37	21	28296534	28296534	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:28296534C>T	uc002ymg.2	-	8	3360	c.2631G>A	c.(2629-2631)CCG>CCA	p.P877P		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	877	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGACCCACTGCGGCTGCGAAG	0.522												
RWDD2B	10069	broad.mit.edu	37	21	30380870	30380870	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:30380870G>A	uc002yms.2	-	2	227	c.140C>T	c.(139-141)GCC>GTC	p.A47V	RWDD2B_uc002ymt.2_Missense_Mutation_p.A18V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	47	RWD.										0						GAACATACTGGCTAGCAGGTC	0.453												
KRTAP19-1	337882	broad.mit.edu	37	21	31852411	31852411	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:31852411A>G	uc011acx.1	-	1	226	c.226T>C	c.(226-228)TGC>CGC	p.C76R		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	76	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						GATGGGCGGCAGCAGCCATAT	0.488												
SFRS15	57466	broad.mit.edu	37	21	33044468	33044468	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:33044468G>A	uc002ypd.2	-	20	3114	c.2688C>T	c.(2686-2688)GGC>GGT	p.G896G	SFRS15_uc002ype.2_Silent_p.G874G|SFRS15_uc010glu.2_Silent_p.G881G	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	896						nucleus	nucleotide binding|RNA binding				0						GCATCGCAAAGCCCCCTGGTC	0.647												
TTC3	7267	broad.mit.edu	37	21	38555103	38555103	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:38555103C>T	uc002yvz.2	+	36	4750	c.4645C>T	c.(4645-4647)CTT>TTT	p.L1549F	TTC3_uc002ywa.2_Missense_Mutation_p.L1549F|TTC3_uc002ywb.2_Missense_Mutation_p.L1549F|TTC3_uc010gnf.2_Missense_Mutation_p.L1314F|TTC3_uc002ywc.2_Missense_Mutation_p.L1239F|TTC3_uc002ywd.1_Missense_Mutation_p.L613F	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1549					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AGATTGGTTCCTTCAAGATTT	0.274												
TRAPPC10	7109	broad.mit.edu	37	21	45479047	45479047	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:45479047G>A	uc002zea.2	+	6	911	c.742G>A	c.(742-744)GAA>AAA	p.E248K	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.E248K	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	248					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GCAGTACGACGAACTGGACGC	0.498												
PFKL	5211	broad.mit.edu	37	21	45745850	45745850	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:45745850G>A	uc002zel.2	+	20	2055	c.1996G>A	c.(1996-1998)GCT>ACT	p.A666T	PFKL_uc002zek.2_Missense_Mutation_p.A713T|PFKL_uc002zem.2_Missense_Mutation_p.A253T|PFKL_uc002zen.2_Missense_Mutation_p.A253T	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	666					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		CCAGGGTGGCGCTCCAACCCC	0.652												
POFUT2	23275	broad.mit.edu	37	21	46703299	46703299	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:46703299T>C	uc002zhc.2	-	3	551	c.526A>G	c.(526-528)AGA>GGA	p.R176G	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R176G|POFUT2_uc011afp.1_Missense_Mutation_p.R176G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	176					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		AGCAGGCACCTGTAGTACTCG	0.408												
PCNT	5116	broad.mit.edu	37	21	47808787	47808787	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:47808787G>A	uc002zji.3	+	18	3702	c.3595G>A	c.(3595-3597)GCC>ACC	p.A1199T	PCNT_uc002zjj.2_Missense_Mutation_p.A1081T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1199					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CGCAGGCCTGGCCCTGTCGAC	0.682												
DIP2A	23181	broad.mit.edu	37	21	47953472	47953472	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:47953472C>A	uc002zjo.2	+	11	1524	c.1341C>A	c.(1339-1341)GGC>GGA	p.G447G	DIP2A_uc011afy.1_Silent_p.G383G|DIP2A_uc011afz.1_Silent_p.G443G|DIP2A_uc002zjl.2_Silent_p.G447G|DIP2A_uc002zjm.2_Silent_p.G447G|DIP2A_uc010gql.2_Silent_p.G404G|DIP2A_uc002zjn.2_Silent_p.G447G|DIP2A_uc002zjp.1_Silent_p.G192G	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	447					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)		TTCTGCTGGGCAGCTGTGGAG	0.617												
TUBA8	51807	broad.mit.edu	37	22	18613670	18613670	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:18613670C>T	uc002znv.1	+	5	1190	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	TUBA8_uc002znr.2_Missense_Mutation_p.R307W|TUBA8_uc002znw.1_Missense_Mutation_p.R397W|TUBA8_uc002znx.1_Missense_Mutation_p.R220W	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CAAGGTGCAGCGGGCCGTCTG	0.637												
HIRA	7290	broad.mit.edu	37	22	19398237	19398237	+	Splice_Site	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:19398237A>G	uc002zpf.1	-	2	320	c.100_splice	c.e2+1	p.G34_splice	HIRA_uc011agx.1_Splice_Site|HIRA_uc010grn.1_Splice_Site_p.G34_splice|HIRA_uc010gro.1_Splice_Site|HIRA_uc010grp.2_Splice_Site	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CCATAAACATACCTTGTCCTC	0.408												
GNB1L	54584	broad.mit.edu	37	22	19808240	19808240	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:19808240C>A	uc002zqe.1	-	3	529	c.135G>T	c.(133-135)CAG>CAT	p.Q45H	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.Q45H	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	45	WD 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CCAGGCCACTCTGAGACCTGT	0.647												
KLHL22	84861	broad.mit.edu	37	22	20819222	20819222	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:20819222C>T	uc002zsl.1	-	4	1144	c.1035G>A	c.(1033-1035)GCG>GCA	p.A345A	KLHL22_uc011ahr.1_Silent_p.A202A|KLHL22_uc002zsm.1_Silent_p.A345A	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	345	Kelch 1.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTTGAGCACCGCGATGCCCT	0.567												
PI4KA	5297	broad.mit.edu	37	22	21097019	21097019	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:21097019C>A	uc002zsz.3	-	31	3547	c.3316G>T	c.(3316-3318)GGC>TGC	p.G1106C		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1106					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACATCTGGCCTGTGGTGCCT	0.478												
GNAZ	2781	broad.mit.edu	37	22	23438056	23438056	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:23438056C>T	uc002zwu.1	+	2	711	c.174C>T	c.(172-174)AGC>AGT	p.S58S	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	58						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCCACAGCGGCGGCTTCA	0.602												
BCR	613	broad.mit.edu	37	22	23631789	23631789	+	Silent	SNP	G	G	A	rs56090728		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:23631789G>A	uc002zww.2	+	13	3284	c.2688G>A	c.(2686-2688)CCG>CCA	p.P896P	BCR_uc002zwx.2_Silent_p.P896P|BCR_uc011aiy.1_Silent_p.P485P|BCR_uc002zwy.1_Silent_p.P182P	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	896	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						ACAGCATTCCGCTGACCATCA	0.577			T	ABL1| FGFR1|JAK2 	CML|ALL|AML						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CYTSA	23384	broad.mit.edu	37	22	24718011	24718011	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:24718011C>T	uc002zzw.2	+	5	1370	c.1063C>T	c.(1063-1065)CCC>TCC	p.P355S	CYTSA_uc002zzv.3_Missense_Mutation_p.P355S|CYTSA_uc011ajq.1_Missense_Mutation_p.P355S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	355					cell cycle|cell division						0						GGTCTACCAGCCCCTCACATC	0.542												
ASPHD2	57168	broad.mit.edu	37	22	26830109	26830109	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:26830109G>A	uc003acg.2	+	2	925	c.528G>A	c.(526-528)ACG>ACA	p.T176T		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	176	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						TGCCCACCACGCCCTATTTCT	0.592												
MN1	4330	broad.mit.edu	37	22	28193239	28193239	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:28193239G>A	uc003adj.2	-	1	4248	c.3293C>T	c.(3292-3294)GCG>GTG	p.A1098V		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1098							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGGCGGGGGCGCCTTCGGTCC	0.711			T	ETV6	AML|meningioma							
ASCC2	84164	broad.mit.edu	37	22	30185156	30185156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30185156G>T	uc003agr.2	-	20	2225	c.2120C>A	c.(2119-2121)TCA>TAA	p.S707*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.S707*|ASCC2_uc011akr.1_Nonsense_Mutation_p.S631*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CACTGCTGTTGAGCTGTCATG	0.637												
GAL3ST1	9514	broad.mit.edu	37	22	30951194	30951194	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30951194G>A	uc003aig.1	-	4	1158	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	GAL3ST1_uc003aih.1_Missense_Mutation_p.R340C|GAL3ST1_uc003aii.1_Missense_Mutation_p.R340C|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R340C	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	340	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GTCCGCATGCGCTCGTTGGCA	0.711												
PES1	23481	broad.mit.edu	37	22	30976107	30976107	+	Missense_Mutation	SNP	C	C	T	rs149717169	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30976107C>T	uc003aij.1	-	11	1176	c.1102G>A	c.(1102-1104)GTC>ATC	p.V368I	PES1_uc003aik.1_Missense_Mutation_p.V363I|PES1_uc003ail.1_Missense_Mutation_p.V351I|PES1_uc003aim.1_Missense_Mutation_p.V368I|PES1_uc003ain.1_Missense_Mutation_p.V229I|PES1_uc003aio.1_Missense_Mutation_p.V229I	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	368	Sufficient for interaction with MAP1B (By similarity).|BRCT.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						GAGTCTGTGACGTCATAGGTG	0.577												
DRG1	4733	broad.mit.edu	37	22	31822637	31822637	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:31822637T>C	uc003aku.2	+	7	881	c.750T>C	c.(748-750)ATT>ATC	p.I250I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	250	GTP (By similarity).				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						TAAATAAGATTGACCAAATCT	0.398												
SFI1	9814	broad.mit.edu	37	22	31979888	31979888	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:31979888C>T	uc003ale.2	+	13	1669	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	SFI1_uc003ald.1_Missense_Mutation_p.R402W|SFI1_uc003alf.2_Missense_Mutation_p.R395W|SFI1_uc003alg.2_Missense_Mutation_p.R344W|SFI1_uc011alp.1_Missense_Mutation_p.R344W|SFI1_uc011alq.1_Missense_Mutation_p.R371W|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	426	HAT 5.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GAACCTCTGGCGGTCTCAGAT	0.498												
DEPDC5	9681	broad.mit.edu	37	22	32302250	32302250	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:32302250C>T	uc003als.2	+	42	4628	c.4486C>T	c.(4486-4488)CGG>TGG	p.R1496W	DEPDC5_uc011als.1_Missense_Mutation_p.R1427W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1527W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1518W|DEPDC5_uc003alu.2_Missense_Mutation_p.R945W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R794W|DEPDC5_uc011alx.1_Missense_Mutation_p.R344W|DEPDC5_uc010gwk.2_Missense_Mutation_p.A531V|DEPDC5_uc011aly.1_Missense_Mutation_p.R344W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1496					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GCAGCGGCGGCGGCGGAACTC	0.607												
C22orf28	51493	broad.mit.edu	37	22	32797740	32797740	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:32797740T>C	uc003amm.2	-	5	622	c.491A>G	c.(490-492)AAT>AGT	p.N164S	C22orf28_uc011ama.1_Intron	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	164					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						TTACTTGGCATTCATTGGGAT	0.473												
APOL3	80833	broad.mit.edu	37	22	36537601	36537601	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:36537601C>T	uc003aot.2	-	3	894	c.856G>A	c.(856-858)GAA>AAA	p.E286K	APOL3_uc003aoq.2_Missense_Mutation_p.E215K|APOL3_uc003aor.2_Missense_Mutation_p.E215K|APOL3_uc003aos.2_Missense_Mutation_p.E215K|APOL3_uc003aou.2_Missense_Mutation_p.E86K|APOL3_uc003aov.2_Missense_Mutation_p.E86K	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	286					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						TGTGTGGCTTCGTAATAATTA	0.502												
CSF2RB	1439	broad.mit.edu	37	22	37319309	37319309	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37319309C>T	uc003aqa.3	+	3	317	c.100C>T	c.(100-102)CGC>TGC	p.R34C	CSF2RB_uc003aqc.3_Missense_Mutation_p.R34C	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	34	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GCAGACCCTGCGCTGCTACAA	0.607												
CSF2RB	1439	broad.mit.edu	37	22	37325759	37325759	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37325759G>A	uc003aqa.3	+	6	845	c.628G>A	c.(628-630)GCC>ACC	p.A210T	CSF2RB_uc003aqc.3_Missense_Mutation_p.A210T	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	210	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CACCTACGTGGCCCGAGTACG	0.652												
MFNG	4242	broad.mit.edu	37	22	37870636	37870636	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37870636G>A	uc003ass.1	-	6	897	c.727C>T	c.(727-729)CTG>TTG	p.L243L	MFNG_uc011ani.1_Silent_p.L121L|MFNG_uc011anj.1_Silent_p.L229L|MFNG_uc003asr.1_5'Flank	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	243	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			lung(1)	1	Melanoma(58;0.0574)					CGGCCGCCCAGCTTGCACTCA	0.612												
NPTXR	23467	broad.mit.edu	37	22	39219123	39219123	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39219123T>C	uc003awk.2	-	4	1397	c.1243A>G	c.(1243-1245)AAG>GAG	p.K415E		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	415	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CCATGAGGCTTGATGGGGTGC	0.502												
PDGFB	5155	broad.mit.edu	37	22	39621845	39621845	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39621845C>T	uc003axf.2	-	6	1598	c.609G>A	c.(607-609)ACG>ACA	p.T203T	PDGFB_uc003axe.2_Silent_p.T188T	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	203					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GAGTTTGGGGCGTTTTGGCTG	0.592			T	COL1A1	DFSP							
PDGFB	5155	broad.mit.edu	37	22	39631786	39631786	+	Missense_Mutation	SNP	C	C	T	rs148252800	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39631786C>T	uc003axf.2	-	2	1146	c.157G>A	c.(157-159)GGA>AGA	p.G53R	PDGFB_uc003axe.2_Missense_Mutation_p.G38R	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	53					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	CATTTACCTCCGGGGTCTCCG	0.612			T	COL1A1	DFSP							
FAM83F	113828	broad.mit.edu	37	22	40417473	40417473	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:40417473G>A	uc003ayk.1	+	4	1053	c.959G>A	c.(958-960)CGA>CAA	p.R320Q		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	320										breast(1)	1						ACTGTGGCTCGAAAGCTTATC	0.662												
A4GALT	53947	broad.mit.edu	37	22	43088985	43088985	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:43088985G>A	uc003bdb.2	-	3	1234	c.973C>T	c.(973-975)CGG>TGG	p.R325W	A4GALT_uc010gzd.2_Missense_Mutation_p.R325W	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	325	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						GCCTCGAACCGCGTGCCCTGG	0.627												
ARFGAP3	26286	broad.mit.edu	37	22	43219661	43219661	+	Splice_Site	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:43219661C>T	uc003bdd.2	-	8	892	c.672_splice	c.e8+1	p.G224_splice	ARFGAP3_uc010gzf.2_Splice_Site_p.G180_splice|ARFGAP3_uc011apu.1_Splice_Site_p.G152_splice	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating						intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						ATAATACTCACGCCTTTTTTA	0.259												
CELSR1	9620	broad.mit.edu	37	22	46929835	46929835	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:46929835G>A	uc003bhw.1	-	1	3233	c.3233C>T	c.(3232-3234)TCG>TTG	p.S1078L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1078	Extracellular (Potential).|Cadherin 8.				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)		CAGCGGAGCCGACGTGGCCTG	0.607												
TBC1D22A	25771	broad.mit.edu	37	22	47569223	47569223	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:47569223G>A	uc003bib.2	+	13	1643	c.1508G>A	c.(1507-1509)CGC>CAC	p.R503H	TBC1D22A_uc010haf.2_Missense_Mutation_p.R473H|TBC1D22A_uc003bic.2_Missense_Mutation_p.R444H|TBC1D22A_uc003bie.2_Missense_Mutation_p.R425H|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R456H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	503						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAGGCCTACCGCCTCAAGTTT	0.627												
MLC1	23209	broad.mit.edu	37	22	50521523	50521523	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:50521523G>T	uc003bjg.1	-	3	530	c.257C>A	c.(256-258)GCT>GAT	p.A86D	MLC1_uc011arl.1_Missense_Mutation_p.A86D|MLC1_uc003bjh.1_Missense_Mutation_p.A86D|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Missense_Mutation_p.A7D|MLC1_uc011aro.1_Missense_Mutation_p.A86D	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	86	Helical; (Potential).					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		AGAGCCTGCAGCACAGCGCAA	0.577												
SBF1	6305	broad.mit.edu	37	22	50886875	50886875	+	Splice_Site	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:50886875T>G	uc003blh.2	-	38	5347	c.5152_splice	c.e38-1	p.G1718_splice	SBF1_uc003ble.2_Splice_Site_p.G182_splice|SBF1_uc003blf.2_Splice_Site_p.G194_splice|SBF1_uc011arx.1_Splice_Site_p.G1356_splice	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGGTGCCCTGGGAACAGGA	0.667												
SHANK3	85358	broad.mit.edu	37	22	51115076	51115076	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:51115076C>A	uc003bne.1	+	3	294	c.294C>A	c.(292-294)GCC>GCA	p.A98A		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	98										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAGTTTATGCCCAGAACCTCA	0.532												
SETD5	55209	broad.mit.edu	37	3	9512161	9512161	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9512161C>T	uc003brt.2	+	19	3178	c.2743C>T	c.(2743-2745)CTG>TTG	p.L915L	SETD5_uc003bru.2_Silent_p.L817L|SETD5_uc003brv.2_Silent_p.L804L|SETD5_uc010hck.2_Silent_p.L397L|SETD5_uc003brx.2_Silent_p.L584L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	915										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAAAGACCTGGATTTGGC	0.478												
BRPF1	7862	broad.mit.edu	37	3	9781094	9781094	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9781094C>T	uc003bse.2	+	3	1410	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	BRPF1_uc003bsf.2_Silent_p.G337G|BRPF1_uc003bsg.2_Silent_p.G337G|BRPF1_uc011ati.1_Silent_p.G337G	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	337					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CCAACAAGGGCGGTGCCTTCA	0.622												
TTLL3	26140	broad.mit.edu	37	3	9877137	9877137	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9877137G>A	uc003btg.2	+	13	2499	c.2283G>A	c.(2281-2283)GCG>GCA	p.A761A	ARPC4_uc003btc.1_Intron	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	761					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TGGATGGGGCGAGGCCGTGTA	0.562												
FANCD2	2177	broad.mit.edu	37	3	10114936	10114936	+	Splice_Site	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:10114936G>T	uc003buw.2	+	28	2684	c.2606_splice	c.e28-1	p.E869_splice	FANCD2_uc003bux.1_Splice_Site_p.E869_splice|FANCD2_uc003buy.1_Splice_Site_p.E869_splice|FANCD2_uc010hcw.1_Splice_Site	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform						DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAATATAAAAGAAAGGAAACA	0.378			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TMEM40	55287	broad.mit.edu	37	3	12783970	12783970	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:12783970T>G	uc003bxg.1	-	5	465	c.338A>C	c.(337-339)GAG>GCG	p.E113A	TMEM40_uc003bxh.1_Missense_Mutation_p.E83A|TMEM40_uc003bxi.1_Missense_Mutation_p.E37A|TMEM40_uc011auv.1_Missense_Mutation_p.E129A	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	113						integral to membrane					0						GAGTTGAAGCTCATCCTTCAA	0.507												
LSM3	27258	broad.mit.edu	37	3	14239580	14239580	+	Silent	SNP	C	C	T	rs112724438	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14239580C>T	uc003byn.2	+	4	302	c.273C>T	c.(271-273)GGC>GGT	p.G91G	uc003byo.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Lsm3 protein	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			ovary(1)	1						GGGGAGATGGCGTTGTCCTGG	0.418												
GRIP2	80852	broad.mit.edu	37	3	14554310	14554310	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14554310G>A	uc011avi.1	-	15	1989	c.1989C>T	c.(1987-1989)AGC>AGT	p.S663S	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.S194S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	565	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CCAGCTCCACGCTGCGCTTCT	0.597												
RFTN1	23180	broad.mit.edu	37	3	16419244	16419244	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:16419244A>G	uc003cay.2	-	5	1089	c.807T>C	c.(805-807)CAT>CAC	p.H269H	RFTN1_uc010hes.2_Silent_p.H233H	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	269						plasma membrane				ovary(3)|central_nervous_system(1)	4						GTGGCTCTTCATGCACCTCCA	0.527												
TGFBR2	7048	broad.mit.edu	37	3	30713226	30713226	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:30713226T>A	uc003ceo.2	+	4	933	c.551T>A	c.(550-552)ATC>AAC	p.I184N	TGFBR2_uc003cen.2_Missense_Mutation_p.I209N	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	184	Helical; (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TCTGTCATCATCATCTTCTAC	0.512												
PDCD6IP	10015	broad.mit.edu	37	3	33907899	33907899	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:33907899A>T	uc003cfx.2	+	18	2644	c.2489A>T	c.(2488-2490)AAT>ATT	p.N830I	PDCD6IP_uc003cfy.2_Missense_Mutation_p.N835I|PDCD6IP_uc011axw.1_Missense_Mutation_p.N611I	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	830	Pro-rich.|Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GGCCAGTATAATATGCCATAT	0.483												
DLEC1	9940	broad.mit.edu	37	3	38136374	38136374	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:38136374G>A	uc003cho.1	+	13	1945	c.1924G>A	c.(1924-1926)GTG>ATG	p.V642M	DLEC1_uc003chp.1_Missense_Mutation_p.V642M|DLEC1_uc010hgv.1_Missense_Mutation_p.V642M|DLEC1_uc003chr.1_Translation_Start_Site|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	642					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAGGCACGTGGAGCTGGC	0.612												
GORASP1	64689	broad.mit.edu	37	3	39139895	39139895	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:39139895C>T	uc003ciw.1	-	9	1253	c.1155G>A	c.(1153-1155)CAG>CAA	p.Q385Q	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Silent_p.Q290Q|GORASP1_uc003ciz.1_Silent_p.Q230Q	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	385					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAAGAGTCAGCTGAGGCAGGT	0.597												
XIRP1	165904	broad.mit.edu	37	3	39227515	39227515	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:39227515C>A	uc003cjk.1	-	2	3643	c.3422G>T	c.(3421-3423)GGC>GTC	p.G1141V	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1141							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTGTAGATGCCATCCTGAAT	0.607												
MYRIP	25924	broad.mit.edu	37	3	40192665	40192665	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40192665C>T	uc003cka.2	+	4	594	c.459C>T	c.(457-459)TTC>TTT	p.F153F	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.F153F|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Silent_p.F153F|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	153	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCGCGTGCTTCGACATTCTAG	0.567												
ZNF619	285267	broad.mit.edu	37	3	40528780	40528780	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40528780A>G	uc011azb.1	+	6	1177	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	ZNF619_uc010hhz.2_Missense_Mutation_p.Y251C|ZNF619_uc003ckj.2_Missense_Mutation_p.Y244C|ZNF619_uc011azc.1_Missense_Mutation_p.Y260C|ZNF619_uc011azd.1_Missense_Mutation_p.Y216C|ZNF619_uc011aza.1_Missense_Mutation_p.Y202C	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	300					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGAAACCATACTCATGTGAG	0.443												
CTNNB1	1499	broad.mit.edu	37	3	41268742	41268742	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:41268742T>C	uc010hia.1	+	8	1136	c.980T>C	c.(979-981)ATA>ACA	p.I327T	CTNNB1_uc003ckp.2_Missense_Mutation_p.I327T|CTNNB1_uc003ckq.2_Missense_Mutation_p.I327T|CTNNB1_uc003ckr.2_Missense_Mutation_p.I327T|CTNNB1_uc011azf.1_Missense_Mutation_p.I320T|CTNNB1_uc011azg.1_Missense_Mutation_p.I255T|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	327	ARM 5.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTAGTAAATATAATGAGGACC	0.398		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
ULK4	54986	broad.mit.edu	37	3	41607548	41607548	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:41607548T>G	uc003ckv.3	-	32	3395	c.3194A>C	c.(3193-3195)AAA>ACA	p.K1065T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1065							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATTCGAATCTTTGCAGGCAAC	0.328												
TRAK1	22906	broad.mit.edu	37	3	42244033	42244033	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42244033G>A	uc003cky.2	+	13	1749	c.1533G>A	c.(1531-1533)TCG>TCA	p.S511S	TRAK1_uc011azh.1_Silent_p.S511S|TRAK1_uc011azi.1_Silent_p.S511S|TRAK1_uc003ckz.3_Silent_p.S437S|TRAK1_uc011azj.1_Silent_p.S437S|TRAK1_uc003cla.2_Silent_p.S453S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	511	Potential.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ACTACCTCTCGGAGAGGAGGT	0.662												
CCDC13	152206	broad.mit.edu	37	3	42772008	42772008	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42772008C>T	uc003cly.3	-	13	1753	c.1669G>A	c.(1669-1671)GAG>AAG	p.E557K		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	557	Potential.									ovary(1)	1						CGCTCCACCTCGGCAGCCTGC	0.612												
SACM1L	22908	broad.mit.edu	37	3	45745000	45745000	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:45745000C>G	uc003cos.2	+	2	307	c.103C>G	c.(103-105)CGT>GGT	p.R35G	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Silent_p.T11T	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	35						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TACCATTGACCGTGTGTCCAC	0.338												
FYCO1	79443	broad.mit.edu	37	3	46008705	46008705	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:46008705G>A	uc003cpb.3	-	8	2327	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	FYCO1_uc011bal.1_Silent_p.G707G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	707	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGACACTCGCCCTCCTTGC	0.612												
ALS2CL	259173	broad.mit.edu	37	3	46722765	46722765	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:46722765G>A	uc003cqa.1	-	13	1597	c.1407C>T	c.(1405-1407)AGC>AGT	p.S469S	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Silent_p.S469S|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	469	MORN 5.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCCATAGCCGCTCCTCTGGC	0.667												
NBEAL2	23218	broad.mit.edu	37	3	47037248	47037248	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47037248C>T	uc003cqp.2	+	14	2122	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	NBEAL2_uc010hjm.1_Missense_Mutation_p.A209V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	648							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTCTTCACGGCGGCCGGGACC	0.597												
FBXW12	285231	broad.mit.edu	37	3	48422396	48422396	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:48422396A>G	uc003csr.2	+	8	1165	c.979A>G	c.(979-981)ATC>GTC	p.I327V	FBXW12_uc010hjv.2_Missense_Mutation_p.I308V|FBXW12_uc003css.2_Missense_Mutation_p.I257V|FBXW12_uc010hjw.2_Missense_Mutation_p.I226V	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	327	WD 4.										0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAACAGTCATCCAAGGTAG	0.413												
COL7A1	1294	broad.mit.edu	37	3	48619157	48619157	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:48619157G>A	uc003ctz.2	-	48	4705	c.4704C>T	c.(4702-4704)ACC>ACT	p.T1568T	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1568	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGGACTCCGGTAGCTCCTC	0.587												
BSN	8927	broad.mit.edu	37	3	49680130	49680130	+	Missense_Mutation	SNP	G	G	A	rs148125466	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:49680130G>A	uc003cxe.3	+	3	1177	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	355					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGCCTTGGCGCGTCACTGCT	0.657												
HYAL3	8372	broad.mit.edu	37	3	50330907	50330907	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:50330907A>C	uc003czd.1	-	4	1297	c.1024T>G	c.(1024-1026)TTG>GTG	p.L342V	HYAL3_uc003czc.1_Missense_Mutation_p.L312V|HYAL3_uc003cze.1_Missense_Mutation_p.L93V|HYAL3_uc003czf.1_Missense_Mutation_p.L63V|HYAL3_uc003czg.1_Missense_Mutation_p.L312V|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	342					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TAGGGGCCCAAGGTGTCCACC	0.582												
RAD54L2	23132	broad.mit.edu	37	3	51664851	51664851	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51664851C>T	uc011bdt.1	+	6	854	c.729C>T	c.(727-729)GAC>GAT	p.D243D	RAD54L2_uc003dbh.2_Translation_Start_Site|RAD54L2_uc011bdu.1_Translation_Start_Site|RAD54L2_uc003dbj.2_Translation_Start_Site	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	243						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACCAGCGTGACGCCCTTGGGC	0.522												
TEX264	51368	broad.mit.edu	37	3	51733548	51733548	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51733548C>T	uc010hls.2	+	5	776	c.607C>T	c.(607-609)CGG>TGG	p.R203W	TEX264_uc003dbk.3_Missense_Mutation_p.R203W|TEX264_uc010hlt.2_Missense_Mutation_p.R23W|TEX264_uc003dbl.3_Missense_Mutation_p.R203W|TEX264_uc003dbm.3_Missense_Mutation_p.R242W	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	203						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GTGGAAATGGCGGGGGCTTGT	0.577												
TLR9	54106	broad.mit.edu	37	3	52257576	52257576	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52257576G>A	uc003dda.1	-	2	1390	c.756C>T	c.(754-756)GGC>GGT	p.G252G	TLR9_uc003ddb.2_Silent_p.G349G	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	252	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCAATTTCCGCCCACATCGA	0.622												
SFMBT1	51460	broad.mit.edu	37	3	52945098	52945098	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52945098G>A	uc003dgf.2	-	18	2396	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	SFMBT1_uc010hmr.2_Silent_p.C556C|SFMBT1_uc003dgg.2_Silent_p.C609C|SFMBT1_uc003dgh.2_Silent_p.C609C	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	609					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGTTAGGACAGCATTCCAGTT	0.433												
CACNA2D3	55799	broad.mit.edu	37	3	54922040	54922040	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:54922040T>A	uc003dhf.2	+	24	2159	c.2111T>A	c.(2110-2112)ATT>AAT	p.I704N	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.I610N|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	704	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGTGCCCCCATTGAAGCGTAT	0.507												
C3orf63	23272	broad.mit.edu	37	3	56675690	56675690	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:56675690T>C	uc003did.3	-	15	2407	c.2306A>G	c.(2305-2307)CAT>CGT	p.H769R	C3orf63_uc003dic.3_Missense_Mutation_p.H373R|C3orf63_uc003die.3_Missense_Mutation_p.H769R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	769										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AAACAGCCTATGGATGTCAGC	0.473												
FLNB	2317	broad.mit.edu	37	3	58121816	58121816	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:58121816C>T	uc003djj.2	+	28	4947	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	FLNB_uc010hne.2_Silent_p.Y1625Y|FLNB_uc003djk.2_Silent_p.Y1594Y|FLNB_uc010hnf.2_Silent_p.Y1594Y|FLNB_uc003djl.2_Silent_p.Y1425Y|FLNB_uc003djm.2_Silent_p.Y1425Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1594	Filamin 14.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCACCTACGGGGGTGACG	0.537												
FAM3D	131177	broad.mit.edu	37	3	58631238	58631238	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:58631238G>A	uc003dkq.2	-	5	558	c.261C>T	c.(259-261)CGC>CGT	p.R87R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	87					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTACTTACATGCGGTCTTCAA	0.438												
SLC25A26	115286	broad.mit.edu	37	3	66428192	66428192	+	Silent	SNP	G	G	A	rs147162139		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:66428192G>A	uc011bfq.1	+	11	1514	c.786G>A	c.(784-786)ACG>ACA	p.T262T	SLC25A26_uc011bfs.1_Silent_p.T174T|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Silent_p.T262T|SLC25A26_uc003dmt.2_3'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	262	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ATGACCGAACGCACAGCTTGC	0.502												
PROS1	5627	broad.mit.edu	37	3	93611853	93611853	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:93611853T>A	uc003drb.3	-	10	1420	c.1079A>T	c.(1078-1080)GAA>GTA	p.E360V	PROS1_uc010hoo.2_Missense_Mutation_p.E229V|PROS1_uc003dqz.3_Missense_Mutation_p.E229V	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	360	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAGCTGAACTTCAATCTTTCC	0.393												
STX19	415117	broad.mit.edu	37	3	93733837	93733837	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:93733837T>C	uc003drh.1	-	2	534	c.277A>G	c.(277-279)ACC>GCC	p.T93A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	93					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						TTTGTAATGGTAGACTCTCTC	0.338												
IMPG2	50939	broad.mit.edu	37	3	100972552	100972552	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:100972552C>T	uc003duq.1	-	11	1430	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P	IMPG2_uc011bhe.1_Silent_p.P272P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	409	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAATAGATGACGGCGTTGCCT	0.403												
SENP7	57337	broad.mit.edu	37	3	101044872	101044872	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:101044872C>T	uc003dut.2	-	24	3179	c.3068G>A	c.(3067-3069)CGT>CAT	p.R1023H	SENP7_uc003duu.2_Missense_Mutation_p.R958H|SENP7_uc003duv.2_Missense_Mutation_p.R990H|SENP7_uc003duw.2_Missense_Mutation_p.R957H|SENP7_uc003dux.2_Missense_Mutation_p.R859H|SENP7_uc003dus.2_Missense_Mutation_p.R211H	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	1023	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TATTACATGACGAGGAAACCA	0.368												
SENP7	57337	broad.mit.edu	37	3	101083705	101083705	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:101083705T>C	uc003dut.2	-	10	1560	c.1449A>G	c.(1447-1449)CTA>CTG	p.L483L	SENP7_uc003duu.2_Silent_p.L418L|SENP7_uc003duv.2_Silent_p.L450L|SENP7_uc003duw.2_Silent_p.L417L|SENP7_uc003dux.2_Silent_p.L319L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	483					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TAATCAATGGTAGTTCTAACA	0.299												
BOC	91653	broad.mit.edu	37	3	112991965	112991965	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:112991965C>T	uc003dzx.2	+	8	1632	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	BOC_uc003dzy.2_Silent_p.G337G|BOC_uc003dzz.2_Silent_p.G337G|BOC_uc003eab.2_Silent_p.G38G	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	337	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCCCTGGGGCCAGAGTGCCA	0.642												
BOC	91653	broad.mit.edu	37	3	112999406	112999406	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:112999406A>G	uc003dzx.2	+	14	2825	c.2204A>G	c.(2203-2205)TAC>TGC	p.Y735C	BOC_uc003dzy.2_Missense_Mutation_p.Y735C|BOC_uc003dzz.2_Missense_Mutation_p.Y736C|BOC_uc003eab.2_Missense_Mutation_p.Y436C|BOC_uc003eac.2_Missense_Mutation_p.Y50C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	735	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCCTATAGTACATCCCAGCA	0.418												
KIAA2018	205717	broad.mit.edu	37	3	113378505	113378505	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:113378505G>T	uc003eam.2	-	7	2435	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	KIAA2018_uc003eal.2_Missense_Mutation_p.P619H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	675					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AGACATCACAGGCTGCAAAGC	0.398												
GOLGB1	2804	broad.mit.edu	37	3	121388136	121388136	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:121388136G>A	uc003eei.3	-	18	9355	c.9229C>T	c.(9229-9231)CGT>TGT	p.R3077C	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3082C|GOLGB1_uc003eej.3_Missense_Mutation_p.R3043C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3077	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGGTTCTCACGAAGACTCTGA	0.483												
KALRN	8997	broad.mit.edu	37	3	124413263	124413263	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:124413263G>A	uc003ehg.2	+	53	7617	c.7490G>A	c.(7489-7491)CGG>CAG	p.R2497Q	KALRN_uc003ehk.2_Missense_Mutation_p.R800Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTCTGTGGGCGGCCAAAGCCC	0.532												
ITGB5	3693	broad.mit.edu	37	3	124560272	124560272	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:124560272A>G	uc003eho.2	-	5	1035	c.738T>C	c.(736-738)CCT>CCC	p.P246P		NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	246	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGCCCCCCTCAGGGGCATCTC	0.572												
SNX4	8723	broad.mit.edu	37	3	125176163	125176163	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:125176163C>T	uc003eib.2	-	11	1033	c.991G>A	c.(991-993)GCT>ACT	p.A331T	SNX4_uc011bkf.1_Missense_Mutation_p.A186T	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	331					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TCCTGAGCAGCCATCTCCAAG	0.433												
PLXNA1	5361	broad.mit.edu	37	3	126741073	126741073	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:126741073C>T	uc003ejg.2	+	21	4119	c.4115C>T	c.(4114-4116)ACG>ATG	p.T1372M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1395	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTCATCATGACGGCCCTGCAG	0.607												
PLXNA1	5361	broad.mit.edu	37	3	126747142	126747142	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:126747142T>C	uc003ejg.2	+	24	4563	c.4559T>C	c.(4558-4560)GTG>GCG	p.V1520A	PLXNA1_uc003ejh.2_Missense_Mutation_p.V188A	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1543	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TACAAGGGCGTGCCCTACTCC	0.682												
COPG	22820	broad.mit.edu	37	3	128979597	128979597	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:128979597C>T	uc003els.2	+	12	1175	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	COPG_uc010htb.2_Missense_Mutation_p.R265C	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	359	HEAT 4.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CAGCATCGACCGCCTCATGAA	0.562												
PIK3R4	30849	broad.mit.edu	37	3	130435316	130435316	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:130435316C>T	uc003enj.2	-	9	2836	c.2255G>A	c.(2254-2256)CGA>CAA	p.R752Q		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	752					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AGAACCATTTCGTTTCTTCTG	0.433												
DNAJC13	23317	broad.mit.edu	37	3	132184906	132184906	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:132184906C>T	uc003eor.2	+	18	2025	c.1960C>T	c.(1960-1962)CGC>TGC	p.R654C	DNAJC13_uc010htq.1_Missense_Mutation_p.R654C	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	654							heat shock protein binding			ovary(1)|breast(1)	2						CTTGTTGAAACGCATTTTGGT	0.353												
GRK7	131890	broad.mit.edu	37	3	141497732	141497732	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:141497732T>G	uc011bnd.1	+	1	690	c.606T>G	c.(604-606)TTT>TTG	p.F202L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	202	ATP (By similarity).|Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAGGTGGTTTTGGGGAGGTAA	0.463												
AADAC	13	broad.mit.edu	37	3	151545776	151545776	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:151545776C>A	uc003eze.2	+	5	1106	c.1016C>A	c.(1015-1017)ACC>AAC	p.T339N		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	339	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATGTCATCACCTGTCAATAT	0.468												
DHX36	170506	broad.mit.edu	37	3	154022719	154022719	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:154022719A>C	uc003ezy.3	-	8	1092	c.1011T>G	c.(1009-1011)CAT>CAG	p.H337Q	DHX36_uc010hvq.2_Missense_Mutation_p.H337Q|DHX36_uc003ezz.3_Missense_Mutation_p.H337Q	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	337	Helicase ATP-binding.|DEAH box.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTTCTTTCATGGATTTCAT	0.318												
PLCH1	23007	broad.mit.edu	37	3	155222380	155222380	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:155222380A>G	uc011bok.1	-	12	1909	c.1632T>C	c.(1630-1632)CAT>CAC	p.H544H	PLCH1_uc011boj.1_Silent_p.H544H|PLCH1_uc011bol.1_Silent_p.H526H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	544					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)			GGGATCGTCCATGTGATTTCT	0.279												
KCNAB1	7881	broad.mit.edu	37	3	155838427	155838427	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:155838427G>A	uc003far.2	+	1	91	c.27G>A	c.(25-27)GCG>GCA	p.A9A	KCNAB1_uc011bon.1_Silent_p.A9A	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	9						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGGGGCAGCGGGGAGTCAGA	0.483												
ACTL6A	86	broad.mit.edu	37	3	179298929	179298929	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:179298929G>A	uc003fjw.2	+	11	1120	c.947G>A	c.(946-948)GGG>GAG	p.G316E	ACTL6A_uc003fjx.2_Missense_Mutation_p.G274E|ACTL6A_uc003fjy.2_Missense_Mutation_p.G274E	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	316					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TTGTTGTAGGGGTTATCAGGA	0.388												
CHRD	8646	broad.mit.edu	37	3	184105786	184105786	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:184105786G>A	uc003fov.2	+	20	2765	c.2519G>A	c.(2518-2520)CGT>CAT	p.R840H	CHRD_uc003fow.2_Missense_Mutation_p.R470H|CHRD_uc003fox.2_Missense_Mutation_p.R840H|CHRD_uc003foy.2_Missense_Mutation_p.R470H|CHRD_uc010hyc.2_Missense_Mutation_p.R430H|CHRD_uc011brr.1_Missense_Mutation_p.R382H	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	840	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCTGTGCGTGTCAACCCC	0.617												
RTP1	132112	broad.mit.edu	37	3	186917755	186917755	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:186917755C>T	uc003frg.2	+	2	719	c.689C>T	c.(688-690)ACG>ATG	p.T230M		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	230	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGGACCAGACGGGCTCAGGC	0.617												
LPP	4026	broad.mit.edu	37	3	188426170	188426170	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:188426170A>G	uc003frs.1	+	7	1475	c.1229A>G	c.(1228-1230)GAC>GGC	p.D410G	LPP_uc011bsg.1_Missense_Mutation_p.D263G|LPP_uc011bsi.1_Missense_Mutation_p.D410G|LPP_uc003frt.2_Missense_Mutation_p.D410G|LPP_uc011bsj.1_Missense_Mutation_p.D247G	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	410					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCACCTGCTGACGAATACTTT	0.478			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
LRCH3	84859	broad.mit.edu	37	3	197553878	197553878	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197553878C>A	uc011bul.1	+	5	775	c.770C>A	c.(769-771)CCT>CAT	p.P257H	LRCH3_uc003fyj.1_Missense_Mutation_p.P257H|LRCH3_uc011bum.1_Missense_Mutation_p.P257H|LRCH3_uc011bun.1_Missense_Mutation_p.P131H|LRCH3_uc003fyk.2_5'Flank	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	257	LRR 8.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAATCACCTCCTGCACAGGTA	0.463												
LMLN	89782	broad.mit.edu	37	3	197703560	197703560	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197703560G>A	uc011buo.1	+	5	545	c.523G>A	c.(523-525)GTT>ATT	p.V175I	LMLN_uc003fyt.2_Missense_Mutation_p.V123I|LMLN_uc010iar.2_Missense_Mutation_p.V175I|LMLN_uc010ias.2_Missense_Mutation_p.V123I|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	175					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGCGGCCCCGTTATTGTTCC	0.483												
LMLN	89782	broad.mit.edu	37	3	197751646	197751646	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197751646G>A	uc011buo.1	+	14	1665	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	LMLN_uc003fyt.2_Missense_Mutation_p.S533N|LMLN_uc010iar.2_Missense_Mutation_p.S585N|LMLN_uc010ias.2_Missense_Mutation_p.S496N|LMLN_uc003fyu.2_Missense_Mutation_p.S345N	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	548					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACTGGGGAAGCGGATGCTAT	0.353												
TACC3	10460	broad.mit.edu	37	4	1729454	1729454	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:1729454G>A	uc003gdo.2	+	4	433	c.325G>A	c.(325-327)GTG>ATG	p.V109M	TACC3_uc010ibz.2_Missense_Mutation_p.V109M|TACC3_uc003gdp.2_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	109						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CATCAAGGAAGTGGATGCCAA	0.448												
WHSC1	7468	broad.mit.edu	37	4	1941423	1941423	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:1941423G>A	uc003gdz.3	+	9	1975	c.1799G>A	c.(1798-1800)CGA>CAA	p.R600Q	WHSC1_uc003geb.3_Missense_Mutation_p.R600Q|WHSC1_uc003gec.3_Missense_Mutation_p.R600Q|WHSC1_uc003ged.3_Missense_Mutation_p.R600Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc003gdy.1_Missense_Mutation_p.R600Q|WHSC1_uc010icd.1_Missense_Mutation_p.R600Q|WHSC1_uc003gea.1_Missense_Mutation_p.R600Q|WHSC1_uc010ice.1_Missense_Mutation_p.R600Q|WHSC1_uc003geh.1_Missense_Mutation_p.R600Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	600					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTGAAGAAGCGAAATCGGGCT	0.358			T	IGH@	MM							
HTT	3064	broad.mit.edu	37	4	3182362	3182362	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3182362T>C	uc011bvq.1	+	37	4884	c.4739T>C	c.(4738-4740)CTC>CCC	p.L1580P		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1578					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTACTGAGACTCATCCAGTAC	0.438												
RGS12	6002	broad.mit.edu	37	4	3429895	3429895	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3429895C>T	uc003ggw.2	+	15	4314	c.3410C>T	c.(3409-3411)ACG>ATG	p.T1137M	RGS12_uc003ggv.2_Missense_Mutation_p.T1137M|RGS12_uc003ggy.1_Missense_Mutation_p.T535M|RGS12_uc003ggz.2_Missense_Mutation_p.T489M|RGS12_uc010icu.1_Missense_Mutation_p.T336M|RGS12_uc011bvs.1_Missense_Mutation_p.T479M|RGS12_uc003gha.2_Missense_Mutation_p.T479M|RGS12_uc010icv.2_Missense_Mutation_p.T336M|RGS12_uc003ghb.2_Missense_Mutation_p.T336M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1137						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACTCGGCTACGGTAATTCCC	0.557												
DOK7	285489	broad.mit.edu	37	4	3487306	3487306	+	Silent	SNP	G	G	A	rs146277586		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3487306G>A	uc003ghd.2	+	5	643	c.573G>A	c.(571-573)CAG>CAA	p.Q191Q	DOK7_uc003ghe.2_Silent_p.Q53Q|DOK7_uc003ghf.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	191	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGGGGGAGCAGATCAGCTTCC	0.672												
CRMP1	1400	broad.mit.edu	37	4	5838577	5838577	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:5838577G>A	uc003gip.2	-	11	1126	c.1025C>T	c.(1024-1026)GCG>GTG	p.A342V	CRMP1_uc003gin.1_Missense_Mutation_p.A254V|CRMP1_uc003giq.2_Missense_Mutation_p.A342V|CRMP1_uc003gir.2_Missense_Mutation_p.A337V|CRMP1_uc003gis.2_Missense_Mutation_p.A456V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	342					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CTTGCCCACCGCCTTCTGGGC	0.577												
HTRA3	94031	broad.mit.edu	37	4	8293275	8293275	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:8293275C>T	uc003gla.2	+	4	1091	c.887C>T	c.(886-888)ACG>ATG	p.T296M	HTRA3_uc003gkz.2_Missense_Mutation_p.T296M	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	296	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						TACATCCAGACGGATGCCATC	0.632												
ACOX3	8310	broad.mit.edu	37	4	8394073	8394073	+	Silent	SNP	G	G	A	rs148695498		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:8394073G>A	uc010idk.2	-	11	1432	c.1287C>T	c.(1285-1287)CAC>CAT	p.H429H	ACOX3_uc003glc.3_Silent_p.H429H|ACOX3_uc003gld.3_Silent_p.H429H|ACOX3_uc003gle.1_Silent_p.H334H	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	429					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						CCAGATAGCCGTGTCCTCCAC	0.517												
DHX15	1665	broad.mit.edu	37	4	24542527	24542527	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:24542527A>G	uc003gqx.2	-	9	1698	c.1530T>C	c.(1528-1530)GTT>GTC	p.V510V	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	510	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				ATTGTAACACAACTGATCCTA	0.328												
PCDH7	5099	broad.mit.edu	37	4	30724436	30724436	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:30724436C>T	uc003gsk.1	+	1	2400	c.1392C>T	c.(1390-1392)GGC>GGT	p.G464G	PCDH7_uc011bxw.1_Silent_p.G417G|PCDH7_uc011bxx.1_Silent_p.G464G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	464	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CCGTGGTGGGCGACGTGCCCT	0.627												
RELL1	768211	broad.mit.edu	37	4	37636679	37636679	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:37636679C>T	uc003gsz.2	-	5	600	c.510G>A	c.(508-510)ACG>ACA	p.T170T	RELL1_uc010ifc.2_Silent_p.T170T	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	170	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						GCTTCCCTGGCGTCCCCCCTG	0.592												
RFC1	5981	broad.mit.edu	37	4	39328186	39328186	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:39328186C>T	uc003gty.1	-	6	773	c.639G>A	c.(637-639)GCG>GCA	p.A213A	RFC1_uc003gtx.1_Silent_p.A213A|RFC1_uc003gtz.1_Silent_p.A97A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	213					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						CCAATACCTCCGCATCTTCAT	0.358												
ATP8A1	10396	broad.mit.edu	37	4	42466947	42466947	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:42466947A>C	uc003gwr.2	-	26	2703	c.2471T>G	c.(2470-2472)CTG>CGG	p.L824R	ATP8A1_uc003gwq.2_Missense_Mutation_p.L50R|ATP8A1_uc003gws.2_Missense_Mutation_p.L809R	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	824	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	AGCTGCCTGCAGGCCTTCATT	0.458												
SPATA18	132671	broad.mit.edu	37	4	52951146	52951146	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:52951146G>A	uc003gzl.2	+	11	1822	c.1544G>A	c.(1543-1545)AGC>AAC	p.S515N	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.S483N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	515					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGCCCCCGTAGCCAAATTGGT	0.368												
PDGFRA	5156	broad.mit.edu	37	4	55143602	55143602	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:55143602G>A	uc003han.3	+	13	2165	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	PDGFRA_uc003haa.2_Missense_Mutation_p.A372T|PDGFRA_uc010igq.1_Missense_Mutation_p.A506T|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	612	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGGAACAGCCTATGGATT	0.507			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KIAA1211	57482	broad.mit.edu	37	4	57181050	57181050	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:57181050G>A	uc003hbk.2	+	8	1773	c.1382G>A	c.(1381-1383)CGA>CAA	p.R461Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R454Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R371Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R347Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	461	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCCGAGCGGCGAAGAGAGCAG	0.602												
C4orf14	84273	broad.mit.edu	37	4	57839340	57839340	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:57839340T>C	uc003hck.2	-	3	1564	c.1489A>G	c.(1489-1491)ACC>GCC	p.T497A		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	497							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					ATTCCAGGGGTGTCATAAAAC	0.299												
UGT2B10	7365	broad.mit.edu	37	4	69693173	69693173	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:69693173T>C	uc003hee.2	+	5	1239	c.1214T>C	c.(1213-1215)ATG>ACG	p.M405T	UGT2B10_uc011cam.1_Missense_Mutation_p.M321T	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	405					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ATTGCTCACATGAAGGCCAAG	0.448												
UGT2B28	54490	broad.mit.edu	37	4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:70156391T>C	uc003hej.2	+	5	1174	c.1172T>C	c.(1171-1173)GTA>GCA	p.V391A	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	391					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	ATCCCTATGGTAGGCATTCCA	0.448												
PPEF2	5470	broad.mit.edu	37	4	76781991	76781991	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:76781991G>A	uc003hix.2	-	17	2448	c.2091C>T	c.(2089-2091)ATC>ATT	p.I697I	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	697	EF-hand 3.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAAGGTCACAGATGCAGTCAT	0.488												
PPEF2	5470	broad.mit.edu	37	4	76797712	76797712	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:76797712C>T	uc003hix.2	-	11	1405	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.E350K	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	350	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCGGCTTTCGGGGAGAAAC	0.587												
STBD1	8987	broad.mit.edu	37	4	77230640	77230640	+	Silent	SNP	C	C	T	rs115600175	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77230640C>T	uc003hka.2	+	2	810	c.564C>T	c.(562-564)AGC>AGT	p.S188S	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.S39S	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	188	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			AAGAAATGAGCCTCTCTGATT	0.483												
CCDC158	339965	broad.mit.edu	37	4	77255321	77255321	+	Splice_Site	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77255321C>T	uc003hkb.3	-	18	2818	c.2665_splice	c.e18-1	p.H889_splice		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											skin(3)|ovary(2)|pancreas(1)	6						TTGTAGAGTGCTGAGTTAAAA	0.299												
ANKRD56	345079	broad.mit.edu	37	4	77816917	77816917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77816917G>A	uc003hki.2	-	1	2086	c.2086C>T	c.(2086-2088)CGG>TGG	p.R696W		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	696	ANK 2.										0						ACATTTACCCGAGAAGCCAAC	0.532												
CCNI	10983	broad.mit.edu	37	4	77969731	77969731	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77969731C>T	uc003hkm.2	-	7	1319	c.775G>A	c.(775-777)GTT>ATT	p.V259I	CCNI_uc011ccb.1_Missense_Mutation_p.V245I	NM_006835	NP_006826	Q14094	CCNI_HUMAN	cyclin I	259					spermatogenesis					ovary(1)	1						TAGACATAAACGGAATTCAGA	0.522												
FGF5	2250	broad.mit.edu	37	4	81196119	81196119	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:81196119A>G	uc003hmd.2	+	2	649	c.412A>G	c.(412-414)AGC>GGC	p.S138G	FGF5_uc003hme.2_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	138					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						AGGAGTTTTCAGCAACAAATT	0.338												
PRKG2	5593	broad.mit.edu	37	4	82126113	82126113	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:82126113A>G	uc003hmh.2	-	1	103	c.89T>C	c.(88-90)GTG>GCG	p.V30A	PRKG2_uc011cch.1_Missense_Mutation_p.V30A	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	30					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						CAGCTCTGTCACCTTGTTCCG	0.527												
SPP1	6696	broad.mit.edu	37	4	88903934	88903934	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:88903934A>T	uc003hra.2	+	7	996	c.831A>T	c.(829-831)GAA>GAT	p.E277D	SPP1_uc003hrb.2_Missense_Mutation_p.E250D|SPP1_uc003hrc.2_Missense_Mutation_p.E263D|SPP1_uc011cde.1_Missense_Mutation_p.E290D|SPP1_uc003hrd.2_Missense_Mutation_p.E236D	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	277				SHEF -> GNSL (in Ref. 2).	biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACAGCCATGAATTTCACAGCC	0.393												
PRDM5	11107	broad.mit.edu	37	4	121774642	121774642	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121774642C>T	uc003idn.2	-	3	481	c.231G>A	c.(229-231)CGG>CGA	p.R77R	PRDM5_uc003ido.2_Silent_p.R77R|PRDM5_uc010ine.2_Silent_p.R77R|PRDM5_uc010inf.2_Silent_p.R77R|PRDM5_uc003idp.1_Silent_p.R77R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						AGTTGGAGTGCCGTGGGTTGG	0.443												
C4orf31	79625	broad.mit.edu	37	4	121958294	121958294	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121958294G>A	uc003idq.1	-	4	1359	c.832C>T	c.(832-834)CGT>TGT	p.R278C		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	278	Fibronectin type-III 1.										0						TAGACATGACGCCCCAGTTTT	0.463												
C4orf31	79625	broad.mit.edu	37	4	121961098	121961098	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121961098G>A	uc003idq.1	-	3	827	c.300C>T	c.(298-300)AGC>AGT	p.S100S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	100											0						AGCCTTCCCCGCTCCTGTCCT	0.498												
FAT4	79633	broad.mit.edu	37	4	126239229	126239229	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:126239229C>T	uc003ifj.3	+	1	1663	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TATAAGTGCCCGGGACCAGGG	0.517											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126372330	126372330	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:126372330G>A	uc003ifj.3	+	9	10159	c.10159G>A	c.(10159-10161)GAT>AAT	p.D3387N	FAT4_uc011cgp.1_Missense_Mutation_p.D1685N|FAT4_uc003ifi.1_Missense_Mutation_p.D865N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3387	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGCAGATATAGATGAGGTCAC	0.418												
PCDH18	54510	broad.mit.edu	37	4	138452975	138452975	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:138452975C>T	uc003ihe.3	-	1	655	c.268G>A	c.(268-270)GCT>ACT	p.A90T	PCDH18_uc003ihf.3_Missense_Mutation_p.A83T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	90	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A90T(1)		pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCAATTGTAGCCCCTATGCTG	0.438												
KIAA0922	23240	broad.mit.edu	37	4	154523729	154523729	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:154523729G>A	uc003inm.3	+	23	2538	c.2486G>A	c.(2485-2487)CGG>CAG	p.R829Q	KIAA0922_uc010ipp.2_Missense_Mutation_p.R830Q|KIAA0922_uc010ipq.2_Missense_Mutation_p.R598Q	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	829	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TGGGTAATTCGGGACCTAAGT	0.433												
DCHS2	54798	broad.mit.edu	37	4	155155840	155155840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:155155840C>A	uc003inw.2	-	25	8599	c.8599G>T	c.(8599-8601)GAA>TAA	p.E2867*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2867					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)		GTCATGCCTTCTGGCAGAGAA	0.512												
DCHS2	54798	broad.mit.edu	37	4	155157007	155157007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:155157007C>A	uc003inw.2	-	25	7432	c.7432G>T	c.(7432-7434)GGA>TGA	p.G2478*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2478	Cadherin 22.				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)		TAAATATTTCCATTGGTTTTA	0.383												
ACCN5	51802	broad.mit.edu	37	4	156784774	156784774	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:156784774C>T	uc003ipe.1	-	2	220	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	58	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		GCGAATTTTGCTCCGGTTCTG	0.483												
PDGFC	56034	broad.mit.edu	37	4	157684333	157684333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:157684333C>T	uc003iph.1	-	6	1438	c.947G>A	c.(946-948)GGT>GAT	p.G316D	PDGFC_uc003ipi.1_Missense_Mutation_p.G153D|PDGFC_uc011cis.1_Missense_Mutation_p.G153D|PDGFC_uc011cir.1_Missense_Mutation_p.G160D	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	316					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCCCTGACACCGGTCTTTGG	0.483												
GRIA2	2891	broad.mit.edu	37	4	158262574	158262574	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:158262574A>G	uc003ipm.3	+	12	2462	c.2003A>G	c.(2002-2004)TAT>TGT	p.Y668C	GRIA2_uc011cit.1_Missense_Mutation_p.Y621C|GRIA2_uc003ipl.3_Missense_Mutation_p.Y668C|GRIA2_uc003ipk.3_Missense_Mutation_p.Y621C|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	668	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATTGCTTATGGAACATTA	0.403												
FSTL5	56884	broad.mit.edu	37	4	162577602	162577602	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:162577602T>C	uc003iqh.2	-	7	1208	c.772A>G	c.(772-774)ACT>GCT	p.T258A	FSTL5_uc003iqi.2_Missense_Mutation_p.T257A|FSTL5_uc010iqv.2_Missense_Mutation_p.T257A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	258	Ig-like 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTGCTGCAGTGATGCTTAGT	0.398												
KLHL2	11275	broad.mit.edu	37	4	166231877	166231877	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:166231877T>C	uc003irb.2	+	10	1471	c.1212T>C	c.(1210-1212)GCT>GCC	p.A404A	KLHL2_uc011cjm.1_Silent_p.A408A|KLHL2_uc003irc.2_Silent_p.A316A|KLHL2_uc010ira.2_Silent_p.A57A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	404	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TATTATACGCTGTGGGAGGCT	0.423												
DDX60L	91351	broad.mit.edu	37	4	169351672	169351672	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:169351672C>T	uc003irq.3	-	13	1855	c.1634G>A	c.(1633-1635)CGG>CAG	p.R545Q	DDX60L_uc003irr.1_Missense_Mutation_p.R545Q|DDX60L_uc003irs.1_Missense_Mutation_p.R272Q	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	545							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTCCTTTGGCCGAGTAGTTTG	0.353												
GALNTL6	442117	broad.mit.edu	37	4	173803946	173803946	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:173803946C>T	uc003isv.2	+	8	1665	c.929C>T	c.(928-930)CCT>CTT	p.P310L		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	310	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CACAGGTCTCCTGTTATGGCT	0.388												
DCTD	1635	broad.mit.edu	37	4	183815681	183815681	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:183815681A>C	uc003ivf.2	-	4	496	c.322T>G	c.(322-324)TTC>GTC	p.F108V	DCTD_uc003ivg.2_Missense_Mutation_p.F119V|DCTD_uc010irw.2_Missense_Mutation_p.F49V|DCTD_uc003ivh.2_Missense_Mutation_p.F49V	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	108					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		TTACAAGGGAACAAGGCAACA	0.468												
C4orf41	60684	broad.mit.edu	37	4	184596387	184596387	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:184596387T>G	uc003ivx.2	+	7	907	c.731T>G	c.(730-732)CTG>CGG	p.L244R	C4orf41_uc003ivw.2_Missense_Mutation_p.L244R|C4orf41_uc010isc.2_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	244											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CAAAATGCGCTGAAGTAAGTT	0.269												
IRF2	3660	broad.mit.edu	37	4	185339729	185339729	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:185339729C>A	uc003iwf.3	-	4	521	c.321G>T	c.(319-321)AGG>AGT	p.R107S		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	107	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTCGGTAGACCCTGAAGGCAT	0.408												
LRP2BP	55805	broad.mit.edu	37	4	186295603	186295603	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186295603C>A	uc003ixj.1	-	4	1155	c.343G>T	c.(343-345)GAC>TAC	p.D115Y	LRP2BP_uc003ixk.1_Missense_Mutation_p.D89Y|LRP2BP_uc011ckr.1_Missense_Mutation_p.D115Y	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	115	Sel1-like 1.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTCATATAGTCCACCCCTTTC	0.388												
CCDC110	256309	broad.mit.edu	37	4	186380474	186380474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186380474G>A	uc003ixu.3	-	6	1343	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	CCDC110_uc003ixv.3_Nonsense_Mutation_p.Q386*|CCDC110_uc011ckt.1_Nonsense_Mutation_p.Q423*	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	423						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCAACACACTGCTCAGTAACG	0.313												
FAM149A	25854	broad.mit.edu	37	4	187075716	187075716	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187075716C>T	uc003iyt.3	+	6	886	c.307C>T	c.(307-309)CGT>TGT	p.R103C	FAM149A_uc011cla.1_Missense_Mutation_p.R103C|FAM149A_uc010isj.2_Missense_Mutation_p.R103C|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.R103C|FAM149A_uc010isl.2_Missense_Mutation_p.R103C|FAM149A_uc011clb.1_Missense_Mutation_p.R103C	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	394										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTAACGGCACGTTCATCCCT	0.473												
KLKB1	3818	broad.mit.edu	37	4	187171481	187171481	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187171481G>T	uc003iyy.2	+	7	754	c.683G>T	c.(682-684)CGG>CTG	p.R228L	KLKB1_uc011clc.1_Nonsense_Mutation_p.G16*|KLKB1_uc011cld.1_Missense_Mutation_p.R190L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	228	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTGTGTGTCGGACCATCTGC	0.463												
KLKB1	3818	broad.mit.edu	37	4	187173268	187173268	+	Silent	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187173268T>G	uc003iyy.2	+	11	1313	c.1242T>G	c.(1240-1242)GCT>GCG	p.A414A	KLKB1_uc011clc.1_Silent_p.A212A|KLKB1_uc011cld.1_Silent_p.A376A	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	414	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGCTGACAGCTCAGAGGCACC	0.542												
FAT1	2195	broad.mit.edu	37	4	187509854	187509854	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187509854G>A	uc003izf.2	-	27	13847	c.13659C>T	c.(13657-13659)TGC>TGT	p.C4553C	FAT1_uc010isn.2_Silent_p.C200C|FAT1_uc003ize.2_Silent_p.C444C	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4553	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACTCCACTTCGCAGCAGGCTG	0.622										HNSCC(5;0.00058)		
KIAA0947	23379	broad.mit.edu	37	5	5464464	5464464	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:5464464C>T	uc003jdm.3	+	13	5239	c.5017C>T	c.(5017-5019)CGT>TGT	p.R1673C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1673	Pro-rich.									ovary(1)|central_nervous_system(1)	2						TTCTCCCTTCCGTGAAACCCC	0.567												
PAPD7	11044	broad.mit.edu	37	5	6742688	6742688	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:6742688A>T	uc003jdx.1	+	5	473	c.344A>T	c.(343-345)GAG>GTG	p.E115V	PAPD7_uc011cmn.1_Missense_Mutation_p.E106V	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	115					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CGGGCAGCGGAGTTCATCAAG	0.488												
ADCY2	108	broad.mit.edu	37	5	7414769	7414769	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:7414769C>T	uc003jdz.1	+	2	361	c.294C>T	c.(292-294)ATC>ATT	p.I98I		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	98					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGTCTGCATCGAGTCTGTGT	0.453												
MTRR	4552	broad.mit.edu	37	5	7892923	7892923	+	Missense_Mutation	SNP	G	G	A	rs146475928	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:7892923G>A	uc003jed.2	+	11	1565	c.1535G>A	c.(1534-1536)CGG>CAG	p.R512Q	MTRR_uc003jee.3_Missense_Mutation_p.R485Q|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	512	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GAGGTTCTGCGGAAGGGAGTA	0.478												
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:11082809G>A	uc003jfa.1	-	16	2932	c.2787C>T	c.(2785-2787)ATC>ATT	p.I929I	CTNND2_uc010itt.2_Silent_p.I838I|CTNND2_uc011cmy.1_Silent_p.I592I|CTNND2_uc011cmz.1_Silent_p.I496I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.I521I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AGAACATACCGATGAGCTCCT	0.507												
MYO10	4651	broad.mit.edu	37	5	16711279	16711279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:16711279G>A	uc003jft.3	-	20	2473	c.2005C>T	c.(2005-2007)CGC>TGC	p.R669C	MYO10_uc011cnd.1_Missense_Mutation_p.R26C|MYO10_uc011cne.1_Missense_Mutation_p.R26C|MYO10_uc010itx.2_Missense_Mutation_p.R292C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	669	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCAGCTTTGCGGATTCTCACA	0.478												
ZFR	51663	broad.mit.edu	37	5	32406984	32406984	+	Silent	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:32406984A>T	uc003jhr.1	-	6	1007	c.927T>A	c.(925-927)ACT>ACA	p.T309T	ZFR_uc010iun.1_Silent_p.T309T	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	309					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		GTGCTTTTTTAGTAAAGGTGG	0.294												
RXFP3	51289	broad.mit.edu	37	5	33937420	33937420	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:33937420G>A	uc003jic.1	+	1	932	c.575G>A	c.(574-576)CGG>CAG	p.R192Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	192	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AAGAGCCACCGGACCCGAGGA	0.647												
UGT3A1	133688	broad.mit.edu	37	5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:35955903C>T	uc003jjv.1	-	6	1296	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493												
RICTOR	253260	broad.mit.edu	37	5	38942984	38942984	+	Missense_Mutation	SNP	G	G	A	rs77464125	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:38942984G>A	uc003jlp.2	-	37	5027	c.5003C>T	c.(5002-5004)CCG>CTG	p.P1668L	RICTOR_uc003jlo.2_Missense_Mutation_p.P1692L|RICTOR_uc010ivf.2_Missense_Mutation_p.P1345L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1668					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					CCTCCGACACGGAAGTCTGAA	0.338												
CARD6	84674	broad.mit.edu	37	5	40853916	40853916	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:40853916G>A	uc003jmg.2	+	3	2557	c.2482G>A	c.(2482-2484)GCC>ACC	p.A828T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	828					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						GCATGTACAGGCCTGCCCTGA	0.488												
ESM1	11082	broad.mit.edu	37	5	54275251	54275251	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:54275251G>T	uc003jpk.2	-	3	533	c.464C>A	c.(463-465)GCA>GAA	p.A155E	ESM1_uc010ivt.2_Missense_Mutation_p.A105E	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	155					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			ATCTCCAGATGCCATGTCATG	0.413												
DHX29	54505	broad.mit.edu	37	5	54573111	54573111	+	Splice_Site	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:54573111C>G	uc003jpx.2	-	13	2230	c.2110_splice	c.e13-1	p.V704_splice	DHX29_uc010ivw.2_Splice_Site	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29								ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTCATGAACCTAGTTTTAAA	0.318												
SLC30A5	64924	broad.mit.edu	37	5	68417584	68417584	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:68417584A>G	uc003jvh.2	+	13	1834	c.1633A>G	c.(1633-1635)AGC>GGC	p.S545G	SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Missense_Mutation_p.S274G|SLC30A5_uc003jvi.2_Missense_Mutation_p.S374G	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	545	Cytoplasmic (Potential).|His-rich loop.				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ccatgcccatagccatgccca	0.393												
BDP1	55814	broad.mit.edu	37	5	70805815	70805815	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:70805815C>A	uc003kbp.1	+	17	3159	c.2896C>A	c.(2896-2898)CCA>ACA	p.P966T	BDP1_uc003kbn.1_Missense_Mutation_p.P966T|BDP1_uc003kbo.2_Missense_Mutation_p.P966T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	966	3.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGAGAGTTCCCCAAGGGAGAA	0.448												
AP3B1	8546	broad.mit.edu	37	5	77536745	77536745	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:77536745T>C	uc003kfj.2	-	3	345	c.220A>G	c.(220-222)AAA>GAA	p.K74E		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	74					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GATGCATTTTTCCCTTTTGCA	0.289									Hermansky-Pudlak_syndrome			
VCAN	1462	broad.mit.edu	37	5	82835880	82835880	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:82835880C>T	uc003kii.3	+	8	7414	c.7058C>T	c.(7057-7059)ACG>ATG	p.T2353M	VCAN_uc003kij.3_Missense_Mutation_p.T1366M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T1017M	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2353	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTTTCTCCACGGACATCGGA	0.448												
VCAN	1462	broad.mit.edu	37	5	82850774	82850774	+	Splice_Site	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:82850774G>T	uc003kii.3	+	12	10009	c.9653_splice	c.e12-1	p.R3218_splice	VCAN_uc003kij.3_Splice_Site_p.R2231_splice|VCAN_uc010jau.2_Splice_Site_p.R1464_splice|VCAN_uc003kik.3_Splice_Site_p.R477_splice|VCAN_uc003kil.3_Splice_Site_p.R1882_splice	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor						cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTATCCCTTAGGTGTGGGCCA	0.393												
RASA1	5921	broad.mit.edu	37	5	86659293	86659293	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:86659293T>C	uc003kiw.2	+	11	1700	c.1582T>C	c.(1582-1584)TAT>CAT	p.Y528H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y351H|RASA1_uc011ctv.1_Missense_Mutation_p.Y361H|RASA1_uc011ctw.1_Missense_Mutation_p.Y362H|RASA1_uc010jaw.2_Missense_Mutation_p.Y350H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	528	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATGTTCTGTCTATGTCGTTCA	0.338												
GPR98	84059	broad.mit.edu	37	5	89939634	89939634	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89939634C>G	uc003kju.2	+	14	2664	c.2568C>G	c.(2566-2568)TAC>TAG	p.Y856*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	856	Extracellular (Potential).|Calx-beta 6.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGAACACTACTGGGTGGTCC	0.353												
GPR98	84059	broad.mit.edu	37	5	89939651	89939651	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89939651G>T	uc003kju.2	+	14	2681	c.2585G>T	c.(2584-2586)AGC>ATC	p.S862I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	862	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCCTCAGCAGCCACGGAGAA	0.363												
SRP19	6728	broad.mit.edu	37	5	112227916	112227916	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112227916C>T	uc011cvv.1	+	4	910	c.655C>T	c.(655-657)CGT>TGT	p.R219C	SRP19_uc011cvu.1_Missense_Mutation_p.R204C|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CAGATGTTCACGTAAACATAA	0.443												
DCP2	167227	broad.mit.edu	37	5	112327834	112327834	+	Silent	SNP	G	G	A	rs144025307		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112327834G>A	uc003kqh.2	+	3	420	c.222G>A	c.(220-222)CCG>CCA	p.P74P	DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	74					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GTCATTGTCCGTTTTTGCTGC	0.338												
PGGT1B	5229	broad.mit.edu	37	5	114573623	114573623	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:114573623G>A	uc003kqw.3	-	4	432	c.411C>T	c.(409-411)GAC>GAT	p.D137D	PGGT1B_uc003kqx.3_Silent_p.D14D|PGGT1B_uc010jch.2_Silent_p.D137D	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	137					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GGCTTAAGTCGTCTCCAAGAA	0.418												
DMXL1	1657	broad.mit.edu	37	5	118486082	118486082	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:118486082C>T	uc003ksd.2	+	18	4741	c.4560C>T	c.(4558-4560)AGC>AGT	p.S1520S	DMXL1_uc010jcl.1_Silent_p.S1520S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1520										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAACTACAAGCACTGATATTG	0.378												
CEP120	153241	broad.mit.edu	37	5	122734964	122734964	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:122734964C>T	uc003ktk.2	-	6	560	c.478G>A	c.(478-480)GCT>ACT	p.A160T	CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_Missense_Mutation_p.A134T	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	160						centrosome				ovary(1)	1						TCAAGTCCAGCCAGGATGGCA	0.383												
FBN2	2201	broad.mit.edu	37	5	127800499	127800499	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:127800499G>A	uc003kuu.2	-	6	1183	c.744C>T	c.(742-744)GGC>GGT	p.G248G	FBN2_uc003kuv.2_Silent_p.G215G|FBN2_uc003kuw.3_Silent_p.G248G|FBN2_uc003kux.1_Silent_p.G248G	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	248	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGGGATGGCCCCACGCCC	0.602												
ADAMTS19	171019	broad.mit.edu	37	5	129070744	129070744	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:129070744C>T	uc003kvb.1	+	22	3414	c.3414C>T	c.(3412-3414)TGC>TGT	p.C1138C	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1138	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)		ACAGGCCATGCCATCTTCAAC	0.383												
TXNDC15	79770	broad.mit.edu	37	5	134235216	134235216	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:134235216C>T	uc003lac.1	+	5	1582	c.924C>T	c.(922-924)GCC>GCT	p.A308A	TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	308	Extracellular (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAACTCAAGCCGACCAAATAG	0.378												
TGFBI	7045	broad.mit.edu	37	5	135385251	135385251	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:135385251G>A	uc003lbf.3	+	7	1056	c.895G>A	c.(895-897)GAC>AAC	p.D299N	TGFBI_uc003lbg.3_Missense_Mutation_p.D32N|TGFBI_uc003lbh.3_Missense_Mutation_p.D125N|TGFBI_uc011cyb.1_Missense_Mutation_p.D125N|TGFBI_uc010jed.2_Missense_Mutation_p.D32N	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	299	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCCTGGGCGACCCAGAAGC	0.542												
BRD8	10902	broad.mit.edu	37	5	137486467	137486467	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137486467A>G	uc003lcf.1	-	22	3142	c.3087T>C	c.(3085-3087)TGT>TGC	p.C1029C	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1029					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTGAACTGTACAAATAACTG	0.418												
GFRA3	2676	broad.mit.edu	37	5	137600037	137600037	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137600037G>A	uc003lcn.2	-	2	432	c.292C>T	c.(292-294)CTG>TTG	p.L98L	GFRA3_uc003lco.2_Silent_p.L98L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	98					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCTATCAGAGAGCTGTTC	0.597												
SLC23A1	9963	broad.mit.edu	37	5	138715466	138715466	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:138715466C>T	uc003leh.2	-	8	923	c.826G>A	c.(826-828)GTG>ATG	p.V276M	SLC23A1_uc003leg.2_Missense_Mutation_p.V280M	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	276					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTGGGCAGCACGTCTGTCAAG	0.597												
PSD2	84249	broad.mit.edu	37	5	139197119	139197119	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:139197119C>T	uc003leu.1	+	5	1275	c.1070C>T	c.(1069-1071)TCG>TTG	p.S357L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	357	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGACTTCTCGGGCTTGACT	0.483												
PCDHA3	56145	broad.mit.edu	37	5	140182832	140182832	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140182832G>A	uc003lhf.2	+	1	2050	c.2050G>A	c.(2050-2052)GCT>ACT	p.A684T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A684T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCGTCCGCTGGCGCCAC	0.647												
PCDHA4	56144	broad.mit.edu	37	5	140189048	140189048	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140189048G>A	uc003lhi.2	+	1	2377	c.2276G>A	c.(2275-2277)TGC>TAC	p.C759Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.C759Y|PCDHA4_uc011daa.1_Missense_Mutation_p.C759Y	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	759	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGTGTGCTCTGGTGAG	0.642												
PCDHA5	56143	broad.mit.edu	37	5	140203040	140203040	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140203040C>T	uc003lhl.2	+	1	1680	c.1680C>T	c.(1678-1680)AAC>AAT	p.N560N	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_Silent_p.N560N|PCDHA5_uc003lhj.1_Silent_p.N560N	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCGC	0.711												
PCDHA5	56143	broad.mit.edu	37	5	140203226	140203226	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140203226C>T	uc003lhl.2	+	1	1866	c.1866C>T	c.(1864-1866)CGC>CGT	p.R622R	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_Silent_p.R622R|PCDHA5_uc003lhj.1_Silent_p.R622R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.637												
PCDHA13	56136	broad.mit.edu	37	5	140262616	140262616	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140262616G>A	uc003lif.2	+	1	763	c.763G>A	c.(763-765)GCC>ACC	p.A255T	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.A255T|PCDHA13_uc003lid.2_Missense_Mutation_p.A255T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	255	Cadherin 3.|Extracellular (Potential).				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)			GTTAGAGAACGCCTTCAATGG	0.448												
PCDHB6	56130	broad.mit.edu	37	5	140530204	140530204	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140530204C>T	uc003lir.2	+	1	366	c.366C>T	c.(364-366)GTC>GTT	p.V122V	PCDHB6_uc011dah.1_5'UTR	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	122	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTGCGAGTCAGAGATATAA	0.473												
PCDHB12	56124	broad.mit.edu	37	5	140588928	140588928	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140588928C>T	uc003liz.2	+	1	638	c.449C>T	c.(448-450)GCT>GTT	p.A150V	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	150	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTGGTGCTGTGTTCTTG	0.383												
PCDHGB1	56104	broad.mit.edu	37	5	140730469	140730469	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140730469C>T	uc003ljo.1	+	1	642	c.642C>T	c.(640-642)GGC>GGT	p.G214G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.G214G	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	214	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGATGGCGGGGACCCGC	0.507												
PCDHGA6	56109	broad.mit.edu	37	5	140753737	140753737	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140753737G>A	uc003ljy.1	+	1	87	c.87G>A	c.(85-87)GCG>GCA	p.A29A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A29A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGCAGCGCAGATCCGCT	0.642												
PCDHGA8	9708	broad.mit.edu	37	5	140773115	140773115	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140773115G>A	uc003lkd.1	+	1	1633	c.735G>A	c.(733-735)CCG>CCA	p.P245P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.P245P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	245	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCACCCGATTTACCGAG	0.567												
PCDHGB7	56099	broad.mit.edu	37	5	140799314	140799314	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140799314C>T	uc003lkn.1	+	1	2033	c.1888C>T	c.(1888-1890)CGT>TGT	p.R630C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.R630C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCATGGTGCGTGCTTTGGG	0.652												
KIAA0141	9812	broad.mit.edu	37	5	141309272	141309272	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141309272A>T	uc003lls.2	+	5	660	c.538A>T	c.(538-540)AGA>TGA	p.R180*	KIAA0141_uc003llt.2_Nonsense_Mutation_p.R180*	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	180					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCTTTGAGAGGAGCTCG	0.622												
SPRY4	81848	broad.mit.edu	37	5	141694197	141694197	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141694197G>A	uc003lml.2	-	2	736	c.477C>T	c.(475-477)TGC>TGT	p.C159C	SPRY4_uc010jgi.1_Silent_p.C182C	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	159	Cys-rich.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCCTCGCACAGCAAGA	0.642									Testicular_Cancer_Familial_Clustering_of			
POU4F3	5459	broad.mit.edu	37	5	145719822	145719822	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:145719822C>T	uc003loa.2	+	2	921	c.832C>T	c.(832-834)CGC>TGC	p.R278C		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278	Homeobox.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCGCAAACGCACGTCCAT	0.612												
JAKMIP2	9832	broad.mit.edu	37	5	147016599	147016599	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:147016599G>A	uc003loq.1	-	11	1925	c.1543C>T	c.(1543-1545)CTC>TTC	p.L515F	JAKMIP2_uc011dbx.1_Missense_Mutation_p.L473F|JAKMIP2_uc003lor.1_Missense_Mutation_p.L515F|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L515F	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	515	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTTGGAGCTGTTCTTGA	0.438												
AFAP1L1	134265	broad.mit.edu	37	5	148697298	148697298	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:148697298T>C	uc003lqh.2	+	12	1405	c.1274T>C	c.(1273-1275)CTG>CCG	p.L425P	AFAP1L1_uc010jgy.2_Missense_Mutation_p.L425P|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L40P	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	425	PH 2.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCTACCTGAACGTGCTG	0.552											OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDGFRB	5159	broad.mit.edu	37	5	149502704	149502704	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:149502704C>T	uc003lro.2	-	15	2553	c.2084G>A	c.(2083-2085)CGC>CAC	p.R695H	PDGFRB_uc010jhd.2_Missense_Mutation_p.R534H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	695	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTTTGTTGCGGTGCAGGTA	0.632			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
G3BP1	10146	broad.mit.edu	37	5	151179857	151179857	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:151179857G>A	uc003lun.2	+	10	1205	c.1034G>A	c.(1033-1035)GGC>GAC	p.G345D	G3BP1_uc003lum.2_Missense_Mutation_p.G345D|G3BP1_uc011dcu.1_Missense_Mutation_p.G163D|G3BP1_uc010jhz.2_Missense_Mutation_p.G163D|G3BP1_uc003luq.2_Missense_Mutation_p.G13D	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	345	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCTTCATTGGCAACCTGCCT	0.413												
GABRG2	2566	broad.mit.edu	37	5	161524835	161524835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:161524835G>A	uc003lyz.3	+	4	877	c.519G>A	c.(517-519)TGG>TGA	p.W173*	GABRG2_uc010jjc.2_Nonsense_Mutation_p.W173*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.W173*|GABRG2_uc011dej.1_Nonsense_Mutation_p.W78*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	173	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAGAATTTGGAATGATGGTC	0.403												
DOCK2	1794	broad.mit.edu	37	5	169477281	169477281	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:169477281G>A	uc003maf.2	+	41	4173	c.4093G>A	c.(4093-4095)GGG>AGG	p.G1365R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.G857R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1365	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCTACCGCGGGAAGGAATA	0.507												
HRH2	3274	broad.mit.edu	37	5	175110616	175110616	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:175110616C>A	uc003mdd.2	+	1	2153	c.380C>A	c.(379-381)CCT>CAT	p.P127H	HRH2_uc003mdc.3_Missense_Mutation_p.P127H	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	127	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGCGGTACCCTGTGCTGGTC	0.552												
SNCB	6620	broad.mit.edu	37	5	176056582	176056582	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:176056582C>T	uc003mep.2	-	3	517	c.74G>A	c.(73-75)GGG>GAG	p.G25E	SNCB_uc003meq.2_Missense_Mutation_p.G25E|SNCB_uc010jke.1_Missense_Mutation_p.G25E|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	25	1.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGGTGACCCCCTGCTTGGT	0.672												
FAM193B	54540	broad.mit.edu	37	5	176951928	176951928	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:176951928T>C	uc003mhs.3	-	8	3044	c.1455A>G	c.(1453-1455)TCA>TCG	p.S485S	FAM193B_uc003mhr.2_Silent_p.S22S|FAM193B_uc003mht.2_Silent_p.S144S|FAM193B_uc003mhu.2_Silent_p.S197S|FAM193B_uc003mhv.2_Silent_p.S144S|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	518											0						CACTGAGGTTTGAGGGGGGTA	0.582												
FLT4	2324	broad.mit.edu	37	5	180047183	180047183	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:180047183C>T	uc003mma.3	-	17	2611	c.2532G>A	c.(2530-2532)CGG>CGA	p.R844R	FLT4_uc003mlz.3_Silent_p.R844R|FLT4_uc003mmb.1_Silent_p.R377R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	844	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGTGCAGCCGCTCTCGGG	0.627									Congenital_Hereditary_Lymphedema			
BTNL3	10917	broad.mit.edu	37	5	180432460	180432460	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:180432460T>A	uc003mmr.2	+	8	1117	c.989T>A	c.(988-990)GTG>GAG	p.V330E	BTNL3_uc010jlp.2_Missense_Mutation_p.V115E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	330	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGAAGAGTGTGGTGGCTTCT	0.512												
IRF4	3662	broad.mit.edu	37	6	401701	401701	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:401701G>A	uc003msz.3	+	7	1136	c.1023G>A	c.(1021-1023)GCG>GCA	p.A341A	IRF4_uc010jne.1_Silent_p.A341A|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.A340A|IRF4_uc003mtc.1_Silent_p.A171A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	341					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCTGGCGCTGTGCAACG	0.592			T	IGH@	MM 							
MYLK4	340156	broad.mit.edu	37	6	2749574	2749574	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:2749574G>A	uc003mty.3	-	2	252	c.-45C>T	c.(-47--43)GACGA>GATGA			NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4								ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTGGTTTTCGTCTCCCTCTG	0.398												
BMP6	654	broad.mit.edu	37	6	7879334	7879334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:7879334C>T	uc003mxu.3	+	5	1410	c.1232C>T	c.(1231-1233)GCC>GTC	p.A411V		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	411					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TTGAAAACAGCCTGCAGGAAG	0.433												
TXNDC5	81567	broad.mit.edu	37	6	7883385	7883385	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:7883385C>T	uc003mxv.2	-	10	1323	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	TXNDC5_uc003mxw.2_Missense_Mutation_p.E388K|TXNDC5_uc010jnz.2_Missense_Mutation_p.E323K	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	431	Prevents secretion from ER (Potential).				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TCCTAAAGTTCGTCTTTCGCT	0.557												
EEF1E1	9521	broad.mit.edu	37	6	8097536	8097536	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:8097536C>T	uc003mxz.2	-	2	326	c.252G>A	c.(250-252)GGG>GGA	p.G84G	EEF1E1_uc011dic.1_Silent_p.G84G	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	84	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)					TACTGGAGTGCCCATCTACTT	0.418												
MAK	4117	broad.mit.edu	37	6	10830846	10830846	+	Silent	SNP	G	G	A	rs138352622		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:10830846G>A	uc003mzl.2	-	1	265	c.36C>T	c.(34-36)GAC>GAT	p.D12D	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.D12D|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	12	ATP (By similarity).|Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CATACGTGCCGTCCCCCAACT	0.438												
GFOD1	54438	broad.mit.edu	37	6	13365208	13365208	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:13365208G>A	uc003nat.1	-	2	1605	c.940C>T	c.(940-942)CGC>TGC	p.R314C	GFOD1_uc003nas.1_Missense_Mutation_p.R211C	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	314						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AAGGCCTGGCGCACCGCCTGC	0.677												
RANBP9	10048	broad.mit.edu	37	6	13639807	13639807	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:13639807C>T	uc003nbb.2	-	9	1572	c.1513G>A	c.(1513-1515)GCA>ACA	p.A505T	RANBP9_uc003nba.2_Missense_Mutation_p.A164T	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	505					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAAAAATGTGCGGTGCTTCCT	0.348												
NHLRC1	378884	broad.mit.edu	37	6	18122487	18122487	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:18122487G>A	uc003ncl.1	-	1	365	c.351C>T	c.(349-351)CAC>CAT	p.H117H		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	117	NHL 1.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CGAAGGTGTGGTGGCAGGTGA	0.726												
MBOAT1	154141	broad.mit.edu	37	6	20126880	20126880	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:20126880A>C	uc003ncx.1	-	7	787	c.582T>G	c.(580-582)AGT>AGG	p.S194R	MBOAT1_uc011dji.1_Missense_Mutation_p.S45R	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	194	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CAGCTATGACACTCATGAAAT	0.363											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPLD1	2822	broad.mit.edu	37	6	24436892	24436892	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24436892C>T	uc003ned.1	-	22	2381	c.2270G>A	c.(2269-2271)CGA>CAA	p.R757Q		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	757	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TACATATACTCGGCCGTCTTC	0.443												
GPLD1	2822	broad.mit.edu	37	6	24437377	24437377	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24437377C>T	uc003ned.1	-	21	2272	c.2161G>A	c.(2161-2163)GTT>ATT	p.V721I		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	721	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AAGTGCAGAACGCCACCAAAT	0.577												
HIST1H2BH	8345	broad.mit.edu	37	6	26252081	26252081	+	Missense_Mutation	SNP	A	A	G	rs76321711		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26252081A>G	uc003nhh.2	+	1	203	c.203A>G	c.(202-204)AAC>AGC	p.N68S	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	68					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						TCCTTTGTCAACGATATCTTC	0.562												
ABT1	29777	broad.mit.edu	37	6	26598635	26598635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26598635G>A	uc003nii.2	+	3	612	c.581G>A	c.(580-582)CGC>CAC	p.R194H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	194					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CGGGGACAACGCTTTCTTGCG	0.612												
OR10C1	442194	broad.mit.edu	37	6	29408484	29408484	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:29408484C>T	uc011dlp.1	+	1	692	c.692C>T	c.(691-693)GCG>GTG	p.A231V	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCATCTGTTGCGGGCCGCCGC	0.582												
PPP1R10	5514	broad.mit.edu	37	6	30571998	30571998	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30571998G>A	uc003nqn.1	-	14	1847	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	PPP1R10_uc010jsc.1_Missense_Mutation_p.A86V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	432	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCGCTTAGCCGCCTCACCAAA	0.507												
FLOT1	10211	broad.mit.edu	37	6	30698338	30698338	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30698338C>T	uc003nrm.2	-	11	1120	c.956G>A	c.(955-957)CGT>CAT	p.R319H	FLOT1_uc011dmr.1_Missense_Mutation_p.R271H	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	319						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						AGCTTCCCCACGCATCTGAGG	0.562												
MUC21	394263	broad.mit.edu	37	6	30954121	30954121	+	Missense_Mutation	SNP	G	G	A	rs137862032		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30954121G>A	uc003nsh.2	+	2	420	c.169G>A	c.(169-171)GTC>ATC	p.V57I	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	57	Ser-rich.|2.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTCCAGTGGGGTCAGCACAGC	0.567												
HLA-B	3106	broad.mit.edu	37	6	31323280	31323280	+	Missense_Mutation	SNP	T	T	A	rs74353323		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31323280T>A	uc003nth.2	-	4	763	c.709A>T	c.(709-711)ATC>TTC	p.I237F	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.I116F|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	237	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						GTCAGTGTGATCTCCGCAGGG	0.602									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
C6orf25	80739	broad.mit.edu	37	6	31691442	31691442	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31691442C>T	uc011doc.1	+	2	88	c.88C>T	c.(88-90)CGG>TGG	p.R30W	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.R30W|C6orf25_uc011dod.1_Missense_Mutation_p.R30W|C6orf25_uc011doe.1_Missense_Mutation_p.R30W|C6orf25_uc003nwo.2_Missense_Mutation_p.R30W|C6orf25_uc003nwn.2_Missense_Mutation_p.R30W	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	30	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CCCTGGGGACCGGGTGAATCT	0.652												
VARS	7407	broad.mit.edu	37	6	31749307	31749307	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31749307C>T	uc003nxe.2	-	21	2918	c.2495G>A	c.(2494-2496)CGG>CAG	p.R832Q	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	832					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CATGACCATCCGGGCCACCCA	0.627												
HSPA1L	3305	broad.mit.edu	37	6	31779305	31779305	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31779305G>A	uc003nxh.2	-	2	628	c.445C>T	c.(445-447)CCA>TCA	p.P149S	HSPA1L_uc010jte.2_Missense_Mutation_p.P149S	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	149					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AAATAGGCTGGCACGGTAATC	0.483												
HSPA1A	3303	broad.mit.edu	37	6	31783569	31783569	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31783569C>T	uc003nxj.2	+	1	279	c.36C>T	c.(34-36)GGC>GGT	p.G12G	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.G12G|HSPA1A_uc003nxi.1_Silent_p.G12G|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	12					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						TCGACCTGGGCACCACCTACT	0.647												
ZBTB12	221527	broad.mit.edu	37	6	31868445	31868445	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31868445A>G	uc003nyd.1	-	2	814	c.638T>C	c.(637-639)GTG>GCG	p.V213A	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCCGACTCCACCTTGACGAT	0.617												
NOTCH4	4855	broad.mit.edu	37	6	32166717	32166717	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:32166717G>A	uc003obb.2	-	24	4660	c.4521C>T	c.(4519-4521)GAC>GAT	p.D1507D	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Silent_p.D170D|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1507	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GACCAATGCTGTCCTCGCCTA	0.557												
IP6K3	117283	broad.mit.edu	37	6	33694543	33694543	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33694543C>T	uc010jvf.2	-	5	1090	c.554G>A	c.(553-555)CGC>CAC	p.R185H	IP6K3_uc003ofb.2_Missense_Mutation_p.R185H	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	185					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						GGAGCACAGGCGGGTCAGGTG	0.617												
TREM2	54209	broad.mit.edu	37	6	41129134	41129134	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41129134G>A	uc003opy.2	-	2	360	c.258C>T	c.(256-258)GAC>GAT	p.D86D	TREM2_uc003opz.2_Silent_p.D116D|TREM2_uc010jxl.1_Silent_p.D116D	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	86	Ig-like V-type.|Extracellular (Potential).				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGGTATCGTCTGTGATGG	0.592												
TFEB	7942	broad.mit.edu	37	6	41657522	41657522	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41657522G>A	uc003oqs.1	-	5	798	c.496C>T	c.(496-498)CGT>TGT	p.R166C	TFEB_uc003oqt.1_Missense_Mutation_p.R166C|TFEB_uc003oqu.1_Missense_Mutation_p.R180C|TFEB_uc003oqv.1_Missense_Mutation_p.R166C|TFEB_uc010jxo.1_Missense_Mutation_p.R166C|TFEB_uc003oqr.1_Missense_Mutation_p.R81C	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	166					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCGTCCAGACGCATAATGTTG	0.547			T	ALPHA	renal (childhood epithelioid)							
MRPL14	64928	broad.mit.edu	37	6	44081904	44081904	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44081904T>C	uc003owp.2	-	3	243	c.114A>G	c.(112-114)GTA>GTG	p.V38V		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14 precursor	38					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CCACCACTCGTACCCGCGTCA	0.547												
CAPN11	11131	broad.mit.edu	37	6	44144338	44144338	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44144338T>C	uc003owt.1	+	10	1060	c.1022T>C	c.(1021-1023)GTG>GCG	p.V341A	CAPN11_uc011dvn.1_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	341	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGAAGAGGTGGCCTCAGAC	0.632												
TCTE1	202500	broad.mit.edu	37	6	44249924	44249924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44249924C>T	uc003oxi.2	-	4	1375	c.1219G>A	c.(1219-1221)GCC>ACC	p.A407T	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	407	LRR 4.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAGTGTGGCGGTGGGCTCA	0.602												
TDRD6	221400	broad.mit.edu	37	6	46660256	46660256	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46660256A>C	uc003oyj.2	+	1	4391	c.4391A>C	c.(4390-4392)GAT>GCT	p.D1464A	TDRD6_uc010jze.2_Missense_Mutation_p.D1458A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1464					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATTCTTGCTGATGAACATGGG	0.373												
GPR110	266977	broad.mit.edu	37	6	46968003	46968003	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46968003A>G	uc003oyt.2	-	15	2888	c.2689T>C	c.(2689-2691)TCC>CCC	p.S897P	GPR110_uc011dwl.1_Missense_Mutation_p.S585P	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	897	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TTGTCGGAGGAATCTCCAGTA	0.333												
PGK2	5232	broad.mit.edu	37	6	49753713	49753713	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:49753713G>A	uc003ozu.2	-	1	1295	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	396				G -> R (in Ref. 1; CAA28872).	glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					GACTGGCACCGCCTCCAGTGC	0.483												
C6orf142	90523	broad.mit.edu	37	6	53989529	53989529	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:53989529C>T	uc003pcg.3	+	3	591	c.478C>T	c.(478-480)CGG>TGG	p.R160W	C6orf142_uc003pcf.2_Missense_Mutation_p.R160W|C6orf142_uc003pch.3_Missense_Mutation_p.R98W|C6orf142_uc011dwz.1_Missense_Mutation_p.R119W|C6orf142_uc011dxa.1_Missense_Mutation_p.R171W	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	160						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CGCAGCTGTCCGGCCCAAGTC	0.532												
HMGCLL1	54511	broad.mit.edu	37	6	55378884	55378884	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:55378884A>G	uc003pcn.2	-	6	753	c.594T>C	c.(592-594)GTT>GTC	p.V198V	HMGCLL1_uc003pco.2_Silent_p.V168V|HMGCLL1_uc010jzx.2_Silent_p.V69V|HMGCLL1_uc011dxc.1_Silent_p.V136V|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Silent_p.V136V	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	198							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGACTTAACAACCTCCTCAA	0.348												
ZNF451	26036	broad.mit.edu	37	6	57013493	57013493	+	Splice_Site	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:57013493T>C	uc003pdm.1	+	10	2832	c.2608_splice	c.e10+2	p.E870_splice	ZNF451_uc003pdl.2_Splice_Site_p.E870_splice|ZNF451_uc003pdn.1_Splice_Site_p.G870_splice|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Splice_Site_p.E870_splice	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAATATAGGTATGGCTTTAT	0.348												
CD109	135228	broad.mit.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:74472143G>A	uc003php.2	+	8	1220	c.795G>A	c.(793-795)ACG>ACA	p.T265T	CD109_uc010kaz.2_Silent_p.T265T|CD109_uc003phq.2_Silent_p.T265T|CD109_uc010kba.2_Silent_p.T188T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGACGTAACGCTTACATTTT	0.294												
PM20D2	135293	broad.mit.edu	37	6	89871856	89871856	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:89871856G>A	uc003pmz.2	+	7	1280	c.1185G>A	c.(1183-1185)CTG>CTA	p.L395L		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	395							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TCTACACTCTGCGGACGGCCA	0.408												
MDN1	23195	broad.mit.edu	37	6	90354841	90354841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:90354841G>A	uc003pnn.1	-	101	16611	c.16495C>T	c.(16495-16497)CGA>TGA	p.R5499*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5499	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAAGGCCTCGCCCATCAGAG	0.443												
CASP8AP2	9994	broad.mit.edu	37	6	90577656	90577656	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:90577656A>G	uc003pnr.2	+	8	4843	c.4647A>G	c.(4645-4647)ACA>ACG	p.T1549T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T1549T|CASP8AP2_uc011dzz.1_Silent_p.T1549T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1549					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACGTGCAACACCATCTACCT	0.433												
C6orf167	253714	broad.mit.edu	37	6	97711302	97711302	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:97711302A>G	uc003ppb.2	-	9	1117	c.851T>C	c.(850-852)ATG>ACG	p.M284T	C6orf167_uc011eaf.1_Missense_Mutation_p.M284T|C6orf167_uc010kcn.1_Missense_Mutation_p.M58T|C6orf167_uc010kco.1_Intron|C6orf167_uc003ppc.2_Missense_Mutation_p.M284T	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	284					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTGGTCACTCATTAATGATTC	0.318												
POU3F2	5454	broad.mit.edu	37	6	99282812	99282812	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:99282812C>T	uc003ppe.2	+	1	233	c.63C>T	c.(61-63)GCC>GCT	p.A21A		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	21					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TCGTGCACGCCGAGCCGCCCG	0.697												
REV3L	5980	broad.mit.edu	37	6	111695978	111695978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:111695978G>A	uc003puy.3	-	13	3903	c.3580C>T	c.(3580-3582)CGA>TGA	p.R1194*	REV3L_uc003pux.3_Nonsense_Mutation_p.R1116*|REV3L_uc003puz.3_Nonsense_Mutation_p.R1116*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1194					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCTGATTTCGTTTGTTCCTT	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GOPC	57120	broad.mit.edu	37	6	117894769	117894769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:117894769C>T	uc003pxu.2	-	5	907	c.677G>A	c.(676-678)CGA>CAA	p.R226Q	GOPC_uc003pxq.1_5'UTR|GOPC_uc003pxv.2_Missense_Mutation_p.R218Q	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	226					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CTTCATATCTCGTCCTAGCAA	0.393			O	ROS1	glioblastoma							
HDDC2	51020	broad.mit.edu	37	6	125619868	125619868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:125619868G>A	uc003qaa.1	-	3	505	c.301C>T	c.(301-303)CGA>TGA	p.R101*	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ACCTCTTCTCGCCTATGTTTT	0.274												
LAMA2	3908	broad.mit.edu	37	6	129766950	129766950	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:129766950G>A	uc003qbn.2	+	44	6518	c.6413G>A	c.(6412-6414)CGG>CAG	p.R2138Q	LAMA2_uc003qbo.2_Missense_Mutation_p.R2138Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2138	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)		AACCAAGCTCGGAAACAAGCC	0.378												
MAP3K5	4217	broad.mit.edu	37	6	136926362	136926362	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:136926362T>C	uc003qhc.2	-	19	3025	c.2664A>G	c.(2662-2664)CAA>CAG	p.Q888Q	MAP3K5_uc011edj.1_Silent_p.Q135Q|MAP3K5_uc011edk.1_Silent_p.Q733Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	888	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACATAGCTGCTTGTGGTTCTC	0.403												
AKAP12	9590	broad.mit.edu	37	6	151672225	151672225	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:151672225C>T	uc011eep.1	+	4	2939	c.2699C>T	c.(2698-2700)ACG>ATG	p.T900M	AKAP12_uc003qoe.2_Missense_Mutation_p.T900M|AKAP12_uc003qof.2_Missense_Mutation_p.T802M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T795M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	900					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTGACGGGACGAGGGCAGCT	0.522												
C6orf211	79624	broad.mit.edu	37	6	151790214	151790214	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:151790214A>G	uc003qok.1	+	5	1554	c.1295A>G	c.(1294-1296)TAT>TGT	p.Y432C	C6orf211_uc011ees.1_Missense_Mutation_p.Y313C	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	432							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACTGGAAAATATGGAATATTT	0.478												
SYNE1	23345	broad.mit.edu	37	6	152540160	152540160	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:152540160C>T	uc010kiw.2	-	120	22624	c.22022G>A	c.(22021-22023)TGC>TAC	p.C7341Y	SYNE1_uc010kiv.2_Missense_Mutation_p.C1865Y|SYNE1_uc003qos.3_Missense_Mutation_p.C1865Y|SYNE1_uc003qot.3_Missense_Mutation_p.C7270Y|SYNE1_uc003qou.3_Missense_Mutation_p.C7341Y|SYNE1_uc003qor.3_Missense_Mutation_p.C241Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7341	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)		CTGCTGTTTGCAGAGAGCTTG	0.438										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152623111	152623111	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:152623111C>T	uc010kiw.2	-	92	18036	c.17434G>A	c.(17434-17436)GCC>ACC	p.A5812T	SYNE1_uc010kiv.2_Missense_Mutation_p.A336T|SYNE1_uc003qos.3_Missense_Mutation_p.A336T|SYNE1_uc003qot.3_Missense_Mutation_p.A5741T|SYNE1_uc003qou.3_Missense_Mutation_p.A5812T|SYNE1_uc010kiy.1_Missense_Mutation_p.A34T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5812	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)		AGCATGGTGGCGTGCTTGGCT	0.587										HNSCC(10;0.0054)		
RBM16	22828	broad.mit.edu	37	6	155114112	155114112	+	Splice_Site	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:155114112T>C	uc003qqa.2	+	6	707	c.475_splice	c.e6+2	p.G159_splice	RBM16_uc011efj.1_Splice_Site_p.G225_splice|RBM16_uc011efk.1_Splice_Site_p.G204_splice|RBM16_uc003qpz.2_Splice_Site_p.G159_splice|RBM16_uc010kji.2_Splice_Site_p.G180_splice	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16						mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		ATACTCCAGGTATGTTGCTTT	0.398												
TULP4	56995	broad.mit.edu	37	6	158925205	158925205	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:158925205C>T	uc003qrf.2	+	13	5867	c.4510C>T	c.(4510-4512)CGG>TGG	p.R1504W	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1504	TUB.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTTAGAGGGGCGGCAGGTAAG	0.607												
RPS6KA2	6196	broad.mit.edu	37	6	166844007	166844007	+	Silent	SNP	C	C	T	rs140163975		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:166844007C>T	uc003qvb.1	-	16	1734	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	RPS6KA2_uc011ego.1_Silent_p.S416S|RPS6KA2_uc010kkl.1_Silent_p.S416S|RPS6KA2_uc003qvc.1_Silent_p.S513S|RPS6KA2_uc003qvd.1_Silent_p.S530S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	505	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTCGCGCTCCGAGAAGTATC	0.602												
WDR27	253769	broad.mit.edu	37	6	170059556	170059556	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:170059556C>A	uc003qwx.2	-	11	1708	c.1188G>T	c.(1186-1188)GCG>GCT	p.A396A	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Silent_p.A396A|WDR27_uc003qwy.2_Silent_p.A269A|WDR27_uc003qwz.1_Silent_p.A129A			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	366										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCTTTTGATCCGCAGTGCGGT	0.542												
INTS1	26173	broad.mit.edu	37	7	1538951	1538951	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1538951G>A	uc003skn.2	-	7	991	c.890C>T	c.(889-891)ACG>ATG	p.T297M	INTS1_uc003skq.2_Missense_Mutation_p.T297M	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	297					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGCAACTCCGTCTGGCTGTC	0.637												
CHST12	55501	broad.mit.edu	37	7	2472864	2472864	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:2472864G>A	uc003smc.2	+	2	725	c.590G>A	c.(589-591)CGC>CAC	p.R197H	CHST12_uc003smd.2_Missense_Mutation_p.R197H	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	197	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGCCCTACCGCGACCCGCTG	0.677												
IQCE	23288	broad.mit.edu	37	7	2618149	2618149	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:2618149G>A	uc003smo.3	+	8	803	c.619G>A	c.(619-621)GAT>AAT	p.D207N	IQCE_uc010ksm.1_Missense_Mutation_p.D207N|IQCE_uc003sml.1_Missense_Mutation_p.D207N|IQCE_uc011jvy.1_Missense_Mutation_p.D191N|IQCE_uc011jvz.1_Missense_Mutation_p.D142N|IQCE_uc003smk.3_Missense_Mutation_p.D191N|IQCE_uc003smn.3_Missense_Mutation_p.D142N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	207	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAAAGGCCCGATGCCAGTTG	0.587												
SDK1	221935	broad.mit.edu	37	7	4198100	4198100	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:4198100A>G	uc003smx.2	+	31	4785	c.4646A>G	c.(4645-4647)TAC>TGC	p.Y1549C	SDK1_uc010kso.2_Missense_Mutation_p.Y825C|SDK1_uc003smy.2_Missense_Mutation_p.Y36C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1549	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCACCTCCTACAAGCTGCGC	0.622												
WIPI2	26100	broad.mit.edu	37	7	5267771	5267771	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5267771C>T	uc003snv.2	+	11	1266	c.1050C>T	c.(1048-1050)GCC>GCT	p.A350A	WIPI2_uc003snw.2_Silent_p.A350A|WIPI2_uc003snx.2_Silent_p.A332A|WIPI2_uc003sny.2_Silent_p.A332A|WIPI2_uc010ksv.2_Silent_p.A206A|WIPI2_uc003soa.2_Silent_p.A291A|WIPI2_uc003sob.2_Silent_p.A93A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	350	WD 3.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGGGTGCCGCCGACGGGTACC	0.572												
TNRC18	84629	broad.mit.edu	37	7	5347923	5347923	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5347923C>T	uc003soi.3	-	30	9070	c.8721G>A	c.(8719-8721)TCG>TCA	p.S2907S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTCCACATGCGAGGACTGGT	0.592												
TNRC18	84629	broad.mit.edu	37	7	5399108	5399108	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5399108G>A	uc003soi.3	-	15	5103	c.4754C>T	c.(4753-4755)GCC>GTC	p.A1585V	TNRC18_uc003soj.2_5'Flank	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1585							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCGATGAGGGCATCATGTTC	0.532												
COL28A1	340267	broad.mit.edu	37	7	7529062	7529062	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:7529062C>T	uc003src.1	-	13	1239	c.1122G>A	c.(1120-1122)CCG>CCA	p.P374P	COL28A1_uc011jxe.1_Silent_p.P57P|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	374					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGGAGCTCCCGGTCTTCCTT	0.383												
THSD7A	221981	broad.mit.edu	37	7	11630185	11630185	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:11630185G>A	uc003ssf.3	-	4	1607	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	452	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAGGGCCGTCTGGTTGCC	0.542										HNSCC(18;0.044)		
ETV1	2115	broad.mit.edu	37	7	13971290	13971290	+	Silent	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:13971290G>C	uc011jxq.1	-	9	1378	c.639C>G	c.(637-639)CGC>CGG	p.R213R	ETV1_uc011jxn.1_Silent_p.R173R|ETV1_uc011jxo.1_Silent_p.R110R|ETV1_uc011jxp.1_Silent_p.R155R|ETV1_uc003ssw.3_Silent_p.R213R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.R195R|ETV1_uc011jxs.1_Silent_p.R195R|ETV1_uc010ktv.2_Silent_p.R82R	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	213					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						CAGACATCTGGCGTTGGTACA	0.532			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate							
HOXA7	3204	broad.mit.edu	37	7	27194723	27194723	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:27194723C>T	uc003sys.2	-	2	630	c.498G>A	c.(496-498)GCG>GCA	p.A166A	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	166	Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						TGAGGCAGAGCGCGTGGGCGA	0.617												
ZNRF2	223082	broad.mit.edu	37	7	30363271	30363271	+	Silent	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:30363271T>G	uc003tat.2	+	2	1534	c.483T>G	c.(481-483)CCT>CCG	p.P161P		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	161						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						TTAAGTGCCCTGTATGCTCAA	0.318												
CRHR2	1395	broad.mit.edu	37	7	30721549	30721549	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:30721549C>T	uc003tbn.2	-	2	455	c.211G>A	c.(211-213)GTC>ATC	p.V71I	CRHR2_uc010kvw.1_Missense_Mutation_p.V71I|CRHR2_uc010kvx.1_Missense_Mutation_p.V71I|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Missense_Mutation_p.V57I|CRHR2_uc003tbp.2_Missense_Mutation_p.V98I|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	71	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TTGTACTTGACGCCGTTGAAG	0.647												
KBTBD2	25948	broad.mit.edu	37	7	32909149	32909149	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:32909149C>T	uc003tdb.2	-	4	2339	c.1680G>A	c.(1678-1680)CGG>CGA	p.R560R	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	560	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			GCAGAGACCACCGGTCAAGTT	0.463												
RP9	6100	broad.mit.edu	37	7	33139022	33139022	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:33139022G>A	uc003tdm.2	-	3	228	c.210C>T	c.(208-210)TGC>TGT	p.C70C		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	70	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			CATCTGGTATGCAATCTTCTG	0.488												
HERPUD2	64224	broad.mit.edu	37	7	35673349	35673349	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:35673349G>A	uc003tet.2	-	8	1977	c.1172C>T	c.(1171-1173)ACC>ATC	p.T391I	HERPUD2_uc003tes.3_Missense_Mutation_p.T391I	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	391					response to unfolded protein	integral to membrane				ovary(3)	3						AGTAAAGAAGGTGGTGATGAA	0.483												
STARD3NL	83930	broad.mit.edu	37	7	38268436	38268436	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:38268436A>G	uc003tfr.2	+	8	834	c.686A>G	c.(685-687)AAA>AGA	p.K229R	STARD3NL_uc003tfs.2_Missense_Mutation_p.K229R|STARD3NL_uc003tft.2_Missense_Mutation_p.K211R	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	229	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						GACAGTGAGAAACCACTTTTA	0.333												
GLI3	2737	broad.mit.edu	37	7	42004864	42004864	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:42004864G>A	uc011kbh.1	-	15	3898	c.3807C>T	c.(3805-3807)GAC>GAT	p.D1269D	GLI3_uc011kbg.1_Silent_p.D1210D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1269					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CACAGGCACCGTCGAGTGCAC	0.617									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43447289	43447289	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:43447289A>G	uc003tid.1	+	8	1365	c.760A>G	c.(760-762)AAG>GAG	p.K254E	HECW1_uc011kbi.1_Missense_Mutation_p.K254E|HECW1_uc003tie.1_Missense_Mutation_p.K286E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGGAGATCCAAGATCATAGG	0.522												
EGFR	1956	broad.mit.edu	37	7	55229284	55229284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:55229284C>T	uc003tqk.2	+	13	1837	c.1591C>T	c.(1591-1593)CGA>TGA	p.R531*	EGFR_uc003tqi.2_Nonsense_Mutation_p.R531*|EGFR_uc003tqj.2_Nonsense_Mutation_p.R531*|EGFR_uc010kzg.1_Nonsense_Mutation_p.R486*|EGFR_uc011kco.1_Nonsense_Mutation_p.R478*|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	531	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAATGTCAGCCGAGGCAGGGA	0.592		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CRCP	27297	broad.mit.edu	37	7	65595732	65595732	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:65595732T>C	uc003tus.2	+	3	192	c.47T>C	c.(46-48)GTA>GCA	p.V16A	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Intron|CRCP_uc003tut.2_Intron|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	16					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0						TCCTCCTAGGTATTTCAGTTA	0.348												
AUTS2	26053	broad.mit.edu	37	7	69064844	69064844	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:69064844C>T	uc003tvw.3	+	1	948	c.205C>T	c.(205-207)CGG>TGG	p.R69W	AUTS2_uc003tvv.3_Missense_Mutation_p.R69W|AUTS2_uc003tvx.3_Missense_Mutation_p.R69W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	69										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGCCCCGTCCCGGCCCAGACC	0.517												
AUTS2	26053	broad.mit.edu	37	7	70236607	70236607	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:70236607C>A	uc003tvw.3	+	11	2550	c.1807C>A	c.(1807-1809)CTA>ATA	p.L603I	AUTS2_uc003tvx.3_Missense_Mutation_p.L603I|AUTS2_uc011keg.1_Missense_Mutation_p.L55I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	603										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTTTGGTTCACTACAAGGAGC	0.557												
WBSCR17	64409	broad.mit.edu	37	7	70597946	70597946	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:70597946C>T	uc003tvy.2	+	1	158	c.158C>T	c.(157-159)GCG>GTG	p.A53V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	53	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AACCTCAGCGCGCACAGCGCC	0.697												
WBSCR28	135886	broad.mit.edu	37	7	73279593	73279593	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:73279593A>G	uc003tzk.2	+	2	379	c.343A>G	c.(343-345)AGT>GGT	p.S115G	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.S14G	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	115						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				GGCCTTGCTCAGTGCCTGGGA	0.612												
HGF	3082	broad.mit.edu	37	7	81372788	81372788	+	Splice_Site	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:81372788C>T	uc003uhl.2	-	7	912	c.747_splice	c.e7-1	p.R249_splice	HGF_uc003uhm.2_Splice_Site_p.R244_splice|HGF_uc003uhn.1_Splice_Site_p.R249_splice|HGF_uc003uho.1_Splice_Site_p.R244_splice	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1						epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GTCGGGATATCTGCAAACCAC	0.502												
PCLO	27445	broad.mit.edu	37	7	82785096	82785096	+	Silent	SNP	G	G	A	rs61744360	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:82785096G>A	uc003uhx.2	-	2	1150	c.861C>T	c.(859-861)GAC>GAT	p.D287D	PCLO_uc003uhv.2_Silent_p.D287D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	287	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCCTTACTATGTCTGCCTGTT	0.512												
MGC26647	219557	broad.mit.edu	37	7	88423782	88423782	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:88423782C>T	uc003ujv.2	-	2	657	c.475G>A	c.(475-477)GAC>AAC	p.D159N	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	159											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)			GTCACATCGTCGAGATACATA	0.368												
AKAP9	10142	broad.mit.edu	37	7	91630782	91630782	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:91630782A>G	uc003ulg.2	+	8	1776	c.1551A>G	c.(1549-1551)GGA>GGG	p.G517G	AKAP9_uc003ule.2_Silent_p.G529G|AKAP9_uc003ulf.2_Silent_p.G517G|AKAP9_uc003uli.2_Silent_p.G142G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	529	Glu-rich.|Potential.				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)			AAGAACTAGGACTAATTTTAG	0.343			T	BRAF	papillary thyroid							
PEX1	5189	broad.mit.edu	37	7	92134057	92134057	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:92134057C>T	uc003uly.2	-	12	2156	c.2060G>A	c.(2059-2061)CGG>CAG	p.R687Q	PEX1_uc011khr.1_Missense_Mutation_p.R479Q|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Missense_Mutation_p.R365Q|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	687			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAGCAAGCCGCTGGCTCTG	0.483												
SAMD9L	219285	broad.mit.edu	37	7	92762390	92762390	+	Silent	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:92762390T>A	uc003umh.1	-	5	4111	c.2895A>T	c.(2893-2895)GGA>GGT	p.G965G	SAMD9L_uc003umj.1_Silent_p.G965G|SAMD9L_uc003umi.1_Silent_p.G965G|SAMD9L_uc010lfb.1_Silent_p.G965G|SAMD9L_uc003umk.1_Silent_p.G965G|SAMD9L_uc010lfc.1_Silent_p.G965G|SAMD9L_uc010lfd.1_Silent_p.G965G|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	965										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGAATAAGTTCCCATCTTGT	0.383												
COL1A2	1278	broad.mit.edu	37	7	94040372	94040372	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:94040372C>A	uc003ung.1	+	23	1727	c.1256C>A	c.(1255-1257)CCT>CAT	p.P419H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	419					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAATAGGGCCCTCCTGGTAGT	0.522										HNSCC(75;0.22)		
CYP3A7	1551	broad.mit.edu	37	7	99313472	99313472	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:99313472G>A	uc003uru.2	-	7	684	c.579C>T	c.(577-579)ATC>ATT	p.I193I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	193					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGAGAGAGTCGATGCTCACTC	0.413												
TRIP6	7205	broad.mit.edu	37	7	100468329	100468329	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100468329C>A	uc003uww.2	+	6	1133	c.963C>A	c.(961-963)GCC>GCA	p.A321A	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	321					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATTTCTACGCCGTGGAGAGGA	0.627												
SRRT	51593	broad.mit.edu	37	7	100479844	100479844	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100479844C>G	uc003uwy.2	+	6	837	c.569C>G	c.(568-570)GCG>GGG	p.A190G	SRRT_uc010lhl.1_Missense_Mutation_p.A190G|SRRT_uc003uxa.2_Missense_Mutation_p.A190G|SRRT_uc003uwz.2_Missense_Mutation_p.A190G	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	190					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TTCTTCCTGGCGCACAAAGAT	0.597												
ACHE	43	broad.mit.edu	37	7	100488859	100488859	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100488859G>A	uc003uxd.2	-	3	1810	c.1654C>T	c.(1654-1656)CGG>TGG	p.R552W	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.R552W|ACHE_uc003uxf.2_Missense_Mutation_p.R552W|ACHE_uc003uxg.2_Missense_Mutation_p.R552W|ACHE_uc003uxh.2_Missense_Mutation_p.R464W|ACHE_uc003uxi.2_Missense_Mutation_p.R552W	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	552					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGCCCCCGCCGCACCTCCAGC	0.706												
AP1S1	1174	broad.mit.edu	37	7	100800008	100800008	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100800008T>C	uc003uxv.3	+	2	247	c.137T>C	c.(136-138)ATG>ACG	p.M46T		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	46					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGCCCAAGATGTGCAGCTTC	0.527												
DNAJC2	27000	broad.mit.edu	37	7	102962984	102962984	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:102962984G>A	uc003vbo.2	-	9	1158	c.907C>T	c.(907-909)CGG>TGG	p.R303W	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Translation_Start_Site|DNAJC2_uc010lix.2_Missense_Mutation_p.R303W|DNAJC2_uc003vbp.2_Translation_Start_Site	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	303					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						tgctccttccgtttagcttct	0.139												
SRPK2	6733	broad.mit.edu	37	7	104783602	104783602	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:104783602T>C	uc003vct.2	-	9	1143	c.956A>G	c.(955-957)TAC>TGC	p.Y319C	SRPK2_uc003vcu.2_Missense_Mutation_p.Y319C|SRPK2_uc003vcv.2_Missense_Mutation_p.Y330C|SRPK2_uc003vcw.1_Missense_Mutation_p.Y319C	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	319	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTCTGGGCAGTATTCGCCATC	0.502												
CDHR3	222256	broad.mit.edu	37	7	105656435	105656435	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105656435C>T	uc003vdl.3	+	11	1498	c.1390C>T	c.(1390-1392)CCA>TCA	p.P464S	CDHR3_uc003vdk.2_Missense_Mutation_p.P112S|CDHR3_uc003vdm.3_Missense_Mutation_p.P451S|CDHR3_uc011klt.1_Missense_Mutation_p.P376S|CDHR3_uc003vdn.2_Missense_Mutation_p.P181S	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	464	Cadherin 4.|Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TTTTGATAGGCCATCCTATGT	0.388												
DOCK4	9732	broad.mit.edu	37	7	111540481	111540481	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:111540481C>T	uc003vfx.2	-	15	1698	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	DOCK4_uc003vfy.2_Missense_Mutation_p.V477M|DOCK4_uc003vga.1_Missense_Mutation_p.V82M	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	477	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AATTTATCCACAGGAATGGGA	0.512												
TMEM168	64418	broad.mit.edu	37	7	112423986	112423986	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:112423986A>G	uc003vgn.2	-	2	1287	c.895T>C	c.(895-897)TCC>CCC	p.S299P	TMEM168_uc010lju.2_Missense_Mutation_p.S299P|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	299	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CCAAAAATGGAAAAGCCAGGT	0.318												
CTTNBP2	83992	broad.mit.edu	37	7	117432425	117432425	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:117432425G>A	uc003vjf.2	-	4	917	c.825C>T	c.(823-825)AGC>AGT	p.S275S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	275	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTGGTTTGCTGTCACTTC	0.478												
C7orf58	79974	broad.mit.edu	37	7	120629903	120629903	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:120629903T>C	uc003vjq.3	+	2	675	c.228T>C	c.(226-228)GGT>GGC	p.G76G	C7orf58_uc003vjr.1_Silent_p.G76G|C7orf58_uc003vjs.3_Silent_p.G76G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	76						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TTCTCTCTGGTAATGCCCAGG	0.478												
PTPRZ1	5803	broad.mit.edu	37	7	121651782	121651782	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:121651782T>C	uc003vjy.2	+	12	3077	c.2682T>C	c.(2680-2682)AGT>AGC	p.S894S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	894	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AATTTGGTAGTGAATCTGGTG	0.473												
CADPS2	93664	broad.mit.edu	37	7	122033276	122033276	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:122033276C>T	uc010lkp.2	-	21	3145	c.2982G>A	c.(2980-2982)TCG>TCA	p.S994S	CADPS2_uc011knx.1_Silent_p.S369S|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	994	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						AAGGCATCCACGAAGCAGTAG	0.458												
SLC13A1	6561	broad.mit.edu	37	7	122808565	122808565	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:122808565C>G	uc003vkm.2	-	5	629	c.604G>C	c.(604-606)GTT>CTT	p.V202L	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	202						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TACCCTGGAACTGGTTTTGTT	0.254												
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:123152119C>T	uc003vkn.2	-	2	853	c.276G>A	c.(274-276)CCG>CCA	p.P92P	IQUB_uc003vko.2_Silent_p.P92P|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.P92P|IQUB_uc003vkq.2_Silent_p.P92P	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92										ovary(3)|large_intestine(1)	4						CATGATGTTGCGGAGTATATG	0.388												
GRM8	2918	broad.mit.edu	37	7	126746712	126746712	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:126746712A>C	uc003vlr.2	-	2	876	c.565T>G	c.(565-567)TAT>GAT	p.Y189D	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y189D|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	189	Extracellular (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)	AAAAAGTCATACCTGGTGTTA	0.478										HNSCC(24;0.065)		
ZNF800	168850	broad.mit.edu	37	7	127014002	127014002	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:127014002G>A	uc003vlx.1	-	5	1651	c.1388C>T	c.(1387-1389)CCG>CTG	p.P463L	ZNF800_uc003vlw.1_Missense_Mutation_p.P366L|ZNF800_uc003vly.1_Missense_Mutation_p.P463L|ZNF800_uc010lla.2_Missense_Mutation_p.P463L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCAGCCGACGGACTAGTTGA	0.378												
FLNC	2318	broad.mit.edu	37	7	128496836	128496836	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:128496836C>T	uc003vnz.3	+	45	7631	c.7422C>T	c.(7420-7422)GGC>GGT	p.G2474G	FLNC_uc003voa.3_Silent_p.G2441G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2474	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGAGAATGGCGTCCACTCCA	0.612												
LRGUK	136332	broad.mit.edu	37	7	133948672	133948672	+	Missense_Mutation	SNP	G	G	A	rs138421011		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:133948672G>A	uc003vrm.1	+	20	2439	c.2423G>A	c.(2422-2424)CGC>CAC	p.R808H		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	808							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTCATCAGTCGCCCAGGTTCC	0.468												
TRIM24	8805	broad.mit.edu	37	7	138145487	138145487	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138145487G>A	uc003vuc.2	+	1	409	c.194G>A	c.(193-195)AGC>AAC	p.S65N	TRIM24_uc003vub.2_Missense_Mutation_p.S65N	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	65	RING-type.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						AACATCCAGAGCCGGGCGCCC	0.726												
ATP6V0A4	50617	broad.mit.edu	37	7	138394473	138394473	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138394473G>A	uc003vuf.2	-	20	2563	c.2325C>T	c.(2323-2325)ATC>ATT	p.I775I	ATP6V0A4_uc003vug.2_Silent_p.I775I|ATP6V0A4_uc003vuh.2_Silent_p.I775I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	775	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						AAACCCCGACGATTCCTCCCC	0.522												
ZC3HAV1	56829	broad.mit.edu	37	7	138764890	138764890	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138764890G>A	uc003vun.2	-	4	1185	c.797C>T	c.(796-798)GCG>GTG	p.A266V	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.A266V	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	266					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						CTCAGCAGACGCTGAAGCAGA	0.532												
TTC26	79989	broad.mit.edu	37	7	138872157	138872157	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138872157C>T	uc003vus.2	+	17	1539	c.1425C>T	c.(1423-1425)GGC>GGT	p.G475G	TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Silent_p.G444G|TTC26_uc011kqp.1_Silent_p.G370G|TTC26_uc003vut.2_Silent_p.G335G|TTC26_uc011kqq.1_Silent_p.G344G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	475	TPR 4.						binding			ovary(1)	1						TTCAGATGGGCCAGTTTTACT	0.428												
LUC7L2	51631	broad.mit.edu	37	7	139107068	139107068	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:139107068C>T	uc003vux.2	+	10	1535	c.1161C>T	c.(1159-1161)CGC>CGT	p.R387R	LUC7L2_uc011kqs.1_Silent_p.R384R|LUC7L2_uc011kqt.1_Silent_p.R453R|LUC7L2_uc003vuy.2_Silent_p.R386R|LUC7L2_uc003vva.2_Silent_p.R334R	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	387	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CTGAAGAGCGCGAAGCAGGGG	0.473												
BRAF	673	broad.mit.edu	37	7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:140500184C>T	uc003vwc.3	-	7	1019	c.958G>A	c.(958-960)GCA>ACA	p.A320T		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	320					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
OR6V1	346517	broad.mit.edu	37	7	142749987	142749987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:142749987C>T	uc011ksv.1	+	1	550	c.550C>T	c.(550-552)CAG>TAG	p.Q184*		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					ACCTCTCCTGCAGTTGTCATG	0.517												
EPHA1	2041	broad.mit.edu	37	7	143095886	143095886	+	Missense_Mutation	SNP	G	G	C	rs57652656	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:143095886G>C	uc003wcz.2	-	6	1231	c.1144C>G	c.(1144-1146)CCC>GCC	p.P382A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	382	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCTGGCAGGGCCCCCCGTCC	0.647												
OR2A5	393046	broad.mit.edu	37	7	143748348	143748348	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:143748348T>G	uc011ktw.1	+	1	854	c.854T>G	c.(853-855)CTG>CGG	p.L285R		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					AACCCGATGCTGAACCCCTTG	0.532												
CNTNAP2	26047	broad.mit.edu	37	7	146997331	146997331	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:146997331C>A	uc003weu.1	+	9	1963	c.1447C>A	c.(1447-1449)CGA>AGA	p.R483R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	483	Extracellular (Potential).|Laminin G-like 2.				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)			ATCAGCAGTTCGAACTAATAG	0.423										HNSCC(39;0.1)		
ZNF282	8427	broad.mit.edu	37	7	148910865	148910865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:148910865G>A	uc003wfm.2	+	7	1244	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	ZNF282_uc011kun.1_Missense_Mutation_p.R380H|ZNF282_uc003wfn.2_Missense_Mutation_p.R320H|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	380					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TGGGGACCACGCGACTCAATG	0.527												
GIMAP1	170575	broad.mit.edu	37	7	150417708	150417708	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150417708G>T	uc003whq.2	+	3	703	c.616G>T	c.(616-618)GGG>TGG	p.G206W	GIMAP1_uc003whp.2_Missense_Mutation_p.G214W	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	206	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTGCTGGGGATGGTCGA	0.692												
NOS3	4846	broad.mit.edu	37	7	150711125	150711125	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150711125C>T	uc003wif.2	+	27	3776	c.3480C>T	c.(3478-3480)TTC>TTT	p.F1160F	NOS3_uc011kuy.1_Silent_p.F954F|ATG9B_uc003wig.3_Intron|ATG9B_uc011kvc.1_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1160					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AAGACATTTTCGGGCTCACGC	0.617												
CHPF2	54480	broad.mit.edu	37	7	150932267	150932267	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150932267T>C	uc003wjr.1	+	2	1910	c.397T>C	c.(397-399)TAC>CAC	p.Y133H	CHPF2_uc003wjq.1_Missense_Mutation_p.Y125H	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	133	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						TCGGTTACTCTACTTCACTGG	0.647												
CRYGN	155051	broad.mit.edu	37	7	151127139	151127139	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:151127139G>T	uc003wke.2	-	4	640	c.544C>A	c.(544-546)CTC>ATC	p.L182I	CRYGN_uc003wkf.2_3'UTR|CRYGN_uc003wkg.2_RNA	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	182											0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCTCAGAGGTTTGCAGTC	0.502												
PAXIP1	22976	broad.mit.edu	37	7	154754138	154754138	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:154754138C>T	uc003wlp.2	-	10	2063	c.2020G>A	c.(2020-2022)GCA>ACA	p.A674T	PAXIP1_uc003wlq.1_Missense_Mutation_p.A640T|PAXIP1_uc011kvs.1_Missense_Mutation_p.A638T	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	674	Interaction with TP53BP1.|BRCT 3.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AACCAGTGTGCAGTAACACAT	0.413												
LMBR1	64327	broad.mit.edu	37	7	156554834	156554834	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:156554834C>A	uc003wmw.3	-	8	893	c.678G>T	c.(676-678)AAG>AAT	p.K226N	LMBR1_uc003wmv.3_Missense_Mutation_p.K74N|LMBR1_uc003wmx.3_Missense_Mutation_p.K74N|LMBR1_uc010lqn.2_Missense_Mutation_p.K226N|LMBR1_uc011kvx.1_Missense_Mutation_p.K205N	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	226	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTACTGTTGGCTTCACTAGCA	0.318												
NOM1	64434	broad.mit.edu	37	7	156746803	156746803	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:156746803T>C	uc003wmy.2	+	3	1134	c.1119T>C	c.(1117-1119)AGT>AGC	p.S373S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	373	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGGTTGAGTGAACCCAACA	0.433												
UBE3C	9690	broad.mit.edu	37	7	157049683	157049683	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:157049683G>A	uc010lqs.2	+	22	3338	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	UBE3C_uc003wni.3_Missense_Mutation_p.R372H	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1009	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAGAAAAGCGCAAACTGCTG	0.423												
DNAJB6	10049	broad.mit.edu	37	7	157177588	157177588	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:157177588A>G	uc003wnk.2	+	7	660	c.506A>G	c.(505-507)CAC>CGC	p.H169R	DNAJB6_uc003wnj.2_Missense_Mutation_p.H169R|DNAJB6_uc003wnl.2_Missense_Mutation_p.H156R|DNAJB6_uc011kvy.1_Missense_Mutation_p.H120R|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.H169R	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	169	Gly/Phe-rich.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCACTAGGTCACGGGGGCCTC	0.383												
MYOM2	9172	broad.mit.edu	37	8	2056577	2056577	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2056577A>G	uc003wpx.3	+	24	3137	c.2999A>G	c.(2998-3000)GAG>GGG	p.E1000G	MYOM2_uc011kwi.1_Missense_Mutation_p.E425G	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1000	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTCGTTTTAGAGCTCGAGCGT	0.498												
CSMD1	64478	broad.mit.edu	37	8	2818731	2818731	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2818731C>A	uc011kwk.1	-	62	10027	c.9637G>T	c.(9637-9639)GCT>TCT	p.A3213S	CSMD1_uc011kwj.1_Missense_Mutation_p.A2542S|CSMD1_uc010lrg.2_Missense_Mutation_p.A1104S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3213	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTATGAGCAGGATCTGAA	0.368												
CSMD1	64478	broad.mit.edu	37	8	2886894	2886894	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2886894C>T	uc011kwk.1	-	51	8195	c.7805G>A	c.(7804-7806)CGG>CAG	p.R2602Q	CSMD1_uc011kwj.1_Missense_Mutation_p.R1931Q|CSMD1_uc010lrg.2_Missense_Mutation_p.R670Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2602	Extracellular (Potential).|Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCCTGGCACCGCAGGAGCCT	0.537												
CSMD1	64478	broad.mit.edu	37	8	3855606	3855606	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:3855606G>A	uc011kwk.1	-	5	1027	c.637C>T	c.(637-639)CGC>TGC	p.R213C		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	213	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGTCCCGCGTAAGGTTCCT	0.567												
ANGPT2	285	broad.mit.edu	37	8	6420295	6420295	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:6420295C>T	uc003wqj.3	-	1	490	c.161G>A	c.(160-162)CGC>CAC	p.R54H	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.R54H|ANGPT2_uc010lri.2_Missense_Mutation_p.R54H|ANGPT2_uc003wql.3_Missense_Mutation_p.R54H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	54					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGGAAGAGCGGCAGTTGTC	0.552												
SGK223	157285	broad.mit.edu	37	8	8185961	8185961	+	Silent	SNP	C	C	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:8185961C>G	uc003wsh.3	-	4	2331	c.2331G>C	c.(2329-2331)CTG>CTC	p.L777L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	777							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GCGAGTGAGCCAGCTCAGACG	0.572												
SGK223	157285	broad.mit.edu	37	8	8234853	8234853	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:8234853C>T	uc003wsh.3	-	2	1066	c.1066G>A	c.(1066-1068)GTC>ATC	p.V356I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	356							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						AGGTGGGGGACGAAGGGGCTA	0.647												
DEFB135	613209	broad.mit.edu	37	8	11842062	11842062	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:11842062T>C	uc003wuw.1	+	2	197	c.197T>C	c.(196-198)GTA>GCA	p.V66A		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	66					defense response to bacterium	extracellular region					0						TTGTGCTGTGTAAACCCAAAA	0.413												
DLC1	10395	broad.mit.edu	37	8	12950293	12950293	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:12950293T>A	uc003wwm.2	-	13	4012	c.3568A>T	c.(3568-3570)ATC>TTC	p.I1190F	DLC1_uc003wwk.1_Missense_Mutation_p.I753F|DLC1_uc003wwl.1_Missense_Mutation_p.I787F|DLC1_uc011kxx.1_Missense_Mutation_p.I679F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1190	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGCAGCATGATGGCAGCCTTG	0.542												
DLC1	10395	broad.mit.edu	37	8	12957673	12957673	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:12957673T>C	uc003wwm.2	-	9	2617	c.2173A>G	c.(2173-2175)AAC>GAC	p.N725D	DLC1_uc003wwk.1_Missense_Mutation_p.N288D|DLC1_uc003wwl.1_Missense_Mutation_p.N322D|DLC1_uc011kxx.1_Missense_Mutation_p.N214D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	725					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ATGGGGACGTTGATGCGGTTG	0.607												
LPL	4023	broad.mit.edu	37	8	19816811	19816811	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:19816811G>C	uc003wzk.3	+	7	1429	c.1059G>C	c.(1057-1059)GAG>GAC	p.E353D		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	353	PLAT.|Heparin-binding (By similarity).				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CTGGGACTGAGAGTGAAACCC	0.448												
XPO7	23039	broad.mit.edu	37	8	21840230	21840230	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:21840230A>G	uc003xaa.3	+	11	1286	c.1184A>G	c.(1183-1185)AAA>AGA	p.K395R	XPO7_uc010lti.2_Missense_Mutation_p.K404R|XPO7_uc010ltk.2_Missense_Mutation_p.K396R	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	395				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCGTATGTCAAAGCCACAGAG	0.498												
EGR3	1960	broad.mit.edu	37	8	22550362	22550362	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:22550362C>T	uc003xcm.1	-	1	454	c.96G>A	c.(94-96)GCG>GCA	p.A32A	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.1_5'Flank	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	32					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		AGAGGTTGAGCGCGCTGGGGA	0.453												
SLC25A37	51312	broad.mit.edu	37	8	23429052	23429052	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:23429052C>A	uc003xdo.2	+	4	854	c.701C>A	c.(700-702)CCG>CAG	p.P234Q	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	234	Solcar 3.|Helical; Name=5; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		ACCTACAACCCGCAGTCCCAC	0.622												
DOCK5	80005	broad.mit.edu	37	8	25216527	25216527	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25216527A>G	uc003xeg.2	+	28	3036	c.2899A>G	c.(2899-2901)AGC>GGC	p.S967G	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.S681G|DOCK5_uc003xei.2_Missense_Mutation_p.S537G|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	967						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGGACGACAGCCACTATAG	0.458												
CDCA2	157313	broad.mit.edu	37	8	25325861	25325861	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25325861G>A	uc003xep.1	+	6	1146	c.667G>A	c.(667-669)GGT>AGT	p.G223S	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.G223S|CDCA2_uc003xeq.1_Missense_Mutation_p.G208S|CDCA2_uc003xer.1_5'UTR	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	223					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAAAGTAATTGGTCTCCAGAT	0.413												
CDCA2	157313	broad.mit.edu	37	8	25364584	25364584	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25364584C>T	uc003xep.1	+	15	2881	c.2402C>T	c.(2401-2403)ACG>ATG	p.T801M	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.T786M|CDCA2_uc003xer.1_Missense_Mutation_p.T464M	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	801					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATTGAAAATACGAAAGAATCT	0.393												
DPYSL2	1808	broad.mit.edu	37	8	26481759	26481759	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:26481759T>C	uc003xfb.1	+	4	764	c.414T>C	c.(412-414)CAT>CAC	p.H138H	DPYSL2_uc003xfa.2_Silent_p.H243H|DPYSL2_uc011lag.1_Silent_p.H138H|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.H102H	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	138					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ACTCTCTGCATGTGGACATCA	0.552												
STMN4	81551	broad.mit.edu	37	8	27097516	27097516	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:27097516G>T	uc003xfk.2	-	5	596	c.482C>A	c.(481-483)GCC>GAC	p.A161D	STMN4_uc003xfj.2_Missense_Mutation_p.A188D|STMN4_uc011lai.1_Missense_Mutation_p.A188D|STMN4_uc011laj.1_Missense_Mutation_p.A152D|STMN4_uc011lak.1_Missense_Mutation_p.A188D|STMN4_uc010luo.2_Missense_Mutation_p.A161D			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	161	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CAACATGGCGGCGAGGTGGGC	0.527												
EPHX2	2053	broad.mit.edu	37	8	27398071	27398071	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:27398071G>T	uc003xfu.2	+	15	1358	c.1277G>T	c.(1276-1278)GGA>GTA	p.G426V	EPHX2_uc010luu.2_Missense_Mutation_p.G394V|EPHX2_uc010luv.2_Missense_Mutation_p.G360V|EPHX2_uc003xfv.2_Missense_Mutation_p.G373V|EPHX2_uc010luw.2_Missense_Mutation_p.G360V	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	426	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTTTTTGCAGGAGGACTTTTT	0.507												
ZNF395	55893	broad.mit.edu	37	8	28206656	28206656	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:28206656G>T	uc003xgq.2	-	9	1504	c.1416C>A	c.(1414-1416)GCC>GCA	p.A472A	ZNF395_uc003xgt.2_Silent_p.A472A|ZNF395_uc003xgr.2_Silent_p.A472A|ZNF395_uc003xgs.2_Silent_p.A472A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	472					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CACCACTCTGGGCCCGGGGTG	0.637												
EXTL3	2137	broad.mit.edu	37	8	28574452	28574452	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:28574452T>C	uc003xgz.1	+	3	1469	c.876T>C	c.(874-876)AGT>AGC	p.S292S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	292	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATAACGTCAGTACTGGCCGTG	0.522												
UBXN8	7993	broad.mit.edu	37	8	30620808	30620808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:30620808C>T	uc003xii.2	+	7	606	c.589C>T	c.(589-591)CGA>TGA	p.R197*	UBXN8_uc010lvi.2_Nonsense_Mutation_p.R160*|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	197	UBX.				single fertilization						0						TGTTGCTCTCCGATGTCCCAG	0.393												
PURG	29942	broad.mit.edu	37	8	30889958	30889958	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:30889958T>C	uc003xin.2	-	1	360	c.341A>G	c.(340-342)GAG>GGG	p.E114G	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E114G	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	114	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GTCCTTCAGCTCCGCTGCCAC	0.582												
UNC5D	137970	broad.mit.edu	37	8	35608257	35608257	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:35608257G>A	uc003xjr.1	+	13	2421	c.2093G>A	c.(2092-2094)TGC>TAC	p.C698Y	UNC5D_uc003xjs.1_Missense_Mutation_p.C693Y|UNC5D_uc003xju.1_Missense_Mutation_p.C274Y	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	698	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTTTTTGGCTGCATGTCCTGT	0.473												
PLEKHA2	59339	broad.mit.edu	37	8	38775508	38775508	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:38775508A>G	uc003xmi.3	+	2	295	c.61A>G	c.(61-63)AAC>GAC	p.N21D	PLEKHA2_uc011lce.1_Intron	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	21	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGAGCATGAGAACAGCGGCAA	0.567												
TM2D2	83877	broad.mit.edu	37	8	38851177	38851177	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:38851177G>A	uc003xmk.2	-	3	401	c.318C>T	c.(316-318)TTC>TTT	p.F106F	TM2D2_uc003xml.2_Silent_p.F63F|TM2D2_uc003xmm.2_Silent_p.F63F|TM2D2_uc003xmn.2_Silent_p.F63F	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	106						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCTGACCGCCGAACTGTGGAA	0.458												
ANK1	286	broad.mit.edu	37	8	41753883	41753883	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:41753883C>T	uc003xom.2	-	1	398	c.116G>A	c.(115-117)CGA>CAA	p.R39Q		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			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)			CTTCTTCTTTCGGTCACGGGA	0.537												
MYST3	7994	broad.mit.edu	37	8	41792077	41792077	+	Missense_Mutation	SNP	C	C	T	rs139494583		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:41792077C>T	uc010lxb.2	-	18	4205	c.3661G>A	c.(3661-3663)GAG>AAG	p.E1221K	MYST3_uc010lxc.2_Missense_Mutation_p.E1221K|MYST3_uc003xon.3_Missense_Mutation_p.E1221K	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1221	Glu-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ttcctctcctcGGGTAGGGGC	0.348												
CHRNB3	1142	broad.mit.edu	37	8	42587259	42587259	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:42587259C>T	uc003xpi.1	+	5	937	c.809C>T	c.(808-810)TCG>TTG	p.S270L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	270	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTATCCACATCGGTCTTGGTT	0.428												
PRKDC	5591	broad.mit.edu	37	8	48825013	48825013	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:48825013C>T	uc003xqi.2	-	25	2948	c.2891G>A	c.(2890-2892)CGG>CAG	p.R964Q	PRKDC_uc003xqj.2_Missense_Mutation_p.R964Q|PRKDC_uc011ldh.1_Missense_Mutation_p.R964Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	964					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGAAACGTCCGCTTATAGAG	0.443								NHEJ				
NPBWR1	2831	broad.mit.edu	37	8	53852514	53852514	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:53852514G>A	uc011ldu.1	+	1	47	c.47G>A	c.(46-48)GGC>GAC	p.G16D		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	16	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AACGCATCGGGCCCGGACCCG	0.716												
RP1	6101	broad.mit.edu	37	8	55533629	55533629	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:55533629G>A	uc003xsd.1	+	2	251	c.103G>A	c.(103-105)GCC>ACC	p.A35T	RP1_uc011ldy.1_Missense_Mutation_p.A35T	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	35					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCCTGTTGTGGCCAAGCGAAT	0.527												
MOS	4342	broad.mit.edu	37	8	57026185	57026185	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:57026185G>A	uc011leb.1	-	1	357	c.357C>T	c.(355-357)CGC>CGT	p.R119R		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	119	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGCCACCACGCGCACGATGT	0.562												
PLAG1	5324	broad.mit.edu	37	8	57080054	57080054	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:57080054G>T	uc003xsq.3	-	3	702	c.251C>A	c.(250-252)GCT>GAT	p.A84D	PLAG1_uc003xsr.3_Missense_Mutation_p.A84D|PLAG1_uc010lyi.2_Missense_Mutation_p.A84D|PLAG1_uc010lyj.2_Missense_Mutation_p.A2D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	84	Interacts with KPNA2.|C2H2-type 2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGAATGAGTAGCCATGTGCCT	0.358			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
CYP7A1	1581	broad.mit.edu	37	8	59404268	59404268	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:59404268T>C	uc003xtm.3	-	6	1344	c.1281A>G	c.(1279-1281)GGA>GGG	p.G427G		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	427					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTAACTTGAGTCCATTACAAT	0.358									Neonatal_Giant_Cell_Hepatitis			
CSPP1	79848	broad.mit.edu	37	8	68062155	68062155	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:68062155G>A	uc003xxi.2	+	18	2234	c.2203G>A	c.(2203-2205)GCA>ACA	p.A735T	CSPP1_uc003xxg.1_Missense_Mutation_p.A727T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A700T|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	735						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGAAGATGCTGCAAATAAAAG	0.318												
ARFGEF1	10565	broad.mit.edu	37	8	68172074	68172074	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:68172074T>C	uc003xxo.1	-	15	2601	c.2211A>G	c.(2209-2211)TTA>TTG	p.L737L	ARFGEF1_uc003xxl.1_Silent_p.L191L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	737	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTCTTGATGTAAGAATTGGG	0.308												
NCOA2	10499	broad.mit.edu	37	8	71087086	71087086	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:71087086C>T	uc003xyn.1	-	5	430	c.268G>A	c.(268-270)GCA>ACA	p.A90T		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	90					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)			TTGGCAGCTGCTGCTTTCTCT	0.423			T	RUNXBP2	AML							
ZFHX4	79776	broad.mit.edu	37	8	77616635	77616635	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:77616635C>T	uc003yav.2	+	2	699	c.312C>T	c.(310-312)CGC>CGT	p.R104R	ZFHX4_uc003yat.1_Silent_p.R104R|ZFHX4_uc003yau.1_Silent_p.R104R|ZFHX4_uc003yaw.1_Silent_p.R104R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAATGCCCGCCTTCCTGTCC	0.502										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77763270	77763270	+	Silent	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:77763270C>A	uc003yav.2	+	10	4365	c.3978C>A	c.(3976-3978)CCC>CCA	p.P1326P	ZFHX4_uc003yau.1_Silent_p.P1371P|ZFHX4_uc003yaw.1_Silent_p.P1326P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAAATCCCCGACACACTGC	0.418										HNSCC(33;0.089)		
CPNE3	8895	broad.mit.edu	37	8	87541285	87541285	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:87541285T>C	uc003ydv.2	+	4	407	c.245T>C	c.(244-246)ATC>ACC	p.I82T		NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	82	C2 1.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GTTTATGACATCGACAACAAA	0.343												
GDF6	392255	broad.mit.edu	37	8	97157104	97157104	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:97157104A>G	uc003yhp.2	-	2	1155	c.1055T>C	c.(1054-1056)CTA>CCA	p.L352P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	352					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCTGCAGCGTAGCCTGGACTT	0.537												
KCNS2	3788	broad.mit.edu	37	8	99441238	99441238	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99441238C>A	uc003yin.2	+	2	1381	c.1031C>A	c.(1030-1032)TCC>TAC	p.S344Y		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	344	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582												
STK3	6788	broad.mit.edu	37	8	99468226	99468226	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99468226C>T	uc003yip.2	-	11	1461	c.1320G>A	c.(1318-1320)TTG>TTA	p.L440L	STK3_uc003yio.2_Silent_p.L468L	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	440	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTAGATTTTTCAACTAGATAC	0.338												
RRM2B	50484	broad.mit.edu	37	8	103237206	103237206	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:103237206C>T	uc003ykn.2	-	4	606	c.362G>A	c.(361-363)CGC>CAC	p.R121H	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.R69H|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	121			R -> H (in MTDPS8B).		deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			ATAGAAACAGCGAGCCTCTGG	0.408								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
BAALC	79870	broad.mit.edu	37	8	104225199	104225199	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:104225199A>G	uc003yld.2	+	2	418	c.213A>G	c.(211-213)CCA>CCG	p.P71P	BAALC_uc003yle.2_Intron|uc003ylf.2_Intron|BAALC_uc003ylg.2_Silent_p.P17P|BAALC_uc010mcc.2_5'Flank	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic isoform 1	106						centrosome|membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTACAGCCCCAGGTGGAATAC	0.577												
SLC25A32	81034	broad.mit.edu	37	8	104415469	104415469	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:104415469G>A	uc003yll.2	-	4	778	c.475C>T	c.(475-477)CCA>TCA	p.P159S	SLC25A32_uc011lhr.1_Missense_Mutation_p.P27S	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	159	Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGTCGGTGTGGGGAGTTAACA	0.338												
RIMS2	9699	broad.mit.edu	37	8	105257232	105257232	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:105257232G>T	uc003yls.2	+	24	3718	c.3477G>T	c.(3475-3477)CAG>CAT	p.Q1159H	RIMS2_uc003ylp.2_Missense_Mutation_p.Q1141H|RIMS2_uc003ylw.2_Missense_Mutation_p.Q1148H|RIMS2_uc003ylq.2_Missense_Mutation_p.Q955H|RIMS2_uc003ylr.2_Missense_Mutation_p.Q980H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1203					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGACTCGACAGGCAAGCCGAG	0.502										HNSCC(12;0.0054)		
PKHD1L1	93035	broad.mit.edu	37	8	110510973	110510973	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:110510973G>A	uc003yne.2	+	67	10905	c.10801G>A	c.(10801-10803)GCC>ACC	p.A3601T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3601	Extracellular (Potential).				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)			GAGTTACAATGCCATCAGTGG	0.408										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	114448952	114448952	+	Silent	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:114448952A>G	uc003ynu.2	-	1	291	c.132T>C	c.(130-132)TTT>TTC	p.F44F	CSMD3_uc011lhx.1_Silent_p.F44F|CSMD3_uc010mcx.1_Silent_p.F44F|CSMD3_uc003ynx.3_Silent_p.F44F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	44	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCAAAACGTAAATCCACTTT	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
COLEC10	10584	broad.mit.edu	37	8	120118226	120118226	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:120118226C>T	uc003yoo.2	+	6	727	c.630C>T	c.(628-630)GGC>GGT	p.G210G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	210	C-type lectin.					collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGTTCATTGGCGTGAATGACC	0.522												
SNTB1	6641	broad.mit.edu	37	8	121823609	121823609	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:121823609C>T	uc010mdg.2	-	1	701	c.475G>A	c.(475-477)GCC>ACC	p.A159T	SNTB1_uc003ype.2_Missense_Mutation_p.A159T	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	159	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GACAGGATGGCGTCGCCCACG	0.642												
ZHX2	22882	broad.mit.edu	37	8	123964440	123964440	+	Silent	SNP	C	C	T	rs142739771		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:123964440C>T	uc003ypk.1	+	3	1257	c.690C>T	c.(688-690)GGC>GGT	p.G230G		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	230	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGACTCGGCGGGGTGGAGC	0.577												
KLHL38	340359	broad.mit.edu	37	8	124664458	124664458	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:124664458C>T	uc003yqs.1	-	1	733	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	237	BACK.										0						GCATCGTTGGCGATGAAGTGG	0.562												
FER1L6	654463	broad.mit.edu	37	8	124988326	124988326	+	Splice_Site	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:124988326T>C	uc003yqw.2	+	9	1076	c.870_splice	c.e9+2	p.M290_splice		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGGCAGATGGTGAGGAACCAT	0.463												
ADCY8	114	broad.mit.edu	37	8	132052107	132052107	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:132052107C>T	uc003ytd.3	-	1	729	c.473G>A	c.(472-474)CGC>CAC	p.R158H	ADCY8_uc010mds.2_Missense_Mutation_p.R158H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	158	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAGGAGTTGCGCAGGGTGGG	0.552										HNSCC(32;0.087)		
ZFAT	57623	broad.mit.edu	37	8	135649909	135649909	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:135649909C>T	uc003yup.2	-	3	418	c.243G>A	c.(241-243)ACG>ACA	p.T81T	ZFAT_uc003yun.2_Silent_p.T69T|ZFAT_uc003yuo.2_Silent_p.T69T|ZFAT_uc010meh.2_Silent_p.T69T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T69T|ZFAT_uc010mej.2_Silent_p.T81T|ZFAT_uc003yur.2_Silent_p.T69T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGACTTCTTCGTGGACCCCT	0.562												
KCNK9	51305	broad.mit.edu	37	8	140630506	140630506	+	Missense_Mutation	SNP	C	C	T	rs149047706		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:140630506C>T	uc003yvf.1	-	2	1184	c.1120G>A	c.(1120-1122)GTT>ATT	p.V374I	KCNK9_uc003yvg.1_Missense_Mutation_p.V374I|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	374	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CACACCTAAACGGACTTCCGG	0.428												
KCNK9	51305	broad.mit.edu	37	8	140630715	140630715	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:140630715G>A	uc003yvf.1	-	2	975	c.911C>T	c.(910-912)TCG>TTG	p.S304L	KCNK9_uc003yvg.1_Missense_Mutation_p.S304L|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	304	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ATAGTCCTGCGAGCGGTAGCA	0.632												
PTK2	5747	broad.mit.edu	37	8	141799597	141799597	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:141799597G>A	uc003yvu.2	-	14	1383	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	PTK2_uc011ljq.1_Missense_Mutation_p.R46W|PTK2_uc003yvp.2_Missense_Mutation_p.R46W|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.R284W|PTK2_uc003yvs.2_Missense_Mutation_p.R385W|PTK2_uc003yvt.2_Missense_Mutation_p.R407W|PTK2_uc003yvv.2_Missense_Mutation_p.R272W|PTK2_uc011ljr.1_Missense_Mutation_p.R385W	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	385					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCGTGTGTCCGCATGCCTTGC	0.517												
C8orf73	642475	broad.mit.edu	37	8	144650000	144650000	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144650000C>T	uc010mff.2	-	12	1867	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q		NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	608							binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGTGGACTCCGCAGGTAGCC	0.682												
TSTA3	7264	broad.mit.edu	37	8	144695756	144695756	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144695756C>T	uc003yza.2	-	9	784	c.748G>A	c.(748-750)GTC>ATC	p.V250I	TSTA3_uc003yzb.2_Missense_Mutation_p.V250I	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	250					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TTGATGGAGACCTCATCTTCC	0.667												
TSTA3	7264	broad.mit.edu	37	8	144697076	144697076	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144697076C>T	uc003yza.2	-	4	307	c.271G>A	c.(271-273)GTG>ATG	p.V91M	TSTA3_uc003yzb.2_Missense_Mutation_p.V91M|TSTA3_uc011lko.1_Missense_Mutation_p.V91M	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	91					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TTCATGTGCACGTTTTTCCTC	0.607												
NRBP2	340371	broad.mit.edu	37	8	144920885	144920885	+	Silent	SNP	G	G	A	rs140645302	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144920885G>A	uc011lkt.1	-	10	947	c.807C>T	c.(805-807)CGC>CGT	p.R269R	NRBP2_uc003yzv.2_Silent_p.R26R|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.R26R|NRBP2_uc011lks.1_Silent_p.R26R|NRBP2_uc003yzy.2_Silent_p.R26R	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	269	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	p.R275R(1)		central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCCTGGCGCGAGCAATGG	0.642												
PLEC	5339	broad.mit.edu	37	8	144997254	144997254	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144997254C>T	uc003zaf.1	-	31	7424	c.7254G>A	c.(7252-7254)GCG>GCA	p.A2418A	PLEC_uc003zab.1_Silent_p.A2281A|PLEC_uc003zac.1_Silent_p.A2285A|PLEC_uc003zad.2_Silent_p.A2281A|PLEC_uc003zae.1_Silent_p.A2249A|PLEC_uc003zag.1_Silent_p.A2259A|PLEC_uc003zah.2_Silent_p.A2267A|PLEC_uc003zaj.2_Silent_p.A2308A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2418	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACTCAGCCGCGCGGCCTCCT	0.642												
PARP10	84875	broad.mit.edu	37	8	145052082	145052082	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145052082G>A	uc003zal.3	-	10	2832	c.2724C>T	c.(2722-2724)GGC>GGT	p.G908G	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_Silent_p.G605G|PARP10_uc011lku.1_Silent_p.G920G|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.G899G	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	908	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCGTTGCGGCCGCAGAAGC	0.721												
HEATR7A	727957	broad.mit.edu	37	8	145235115	145235115	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145235115G>A	uc003zbk.3	+	6	572	c.335G>A	c.(334-336)GGC>GAC	p.G112D	HEATR7A_uc003zbg.2_Missense_Mutation_p.G112D|HEATR7A_uc003zbh.3_Missense_Mutation_p.G112D|HEATR7A_uc003zbi.3_Missense_Mutation_p.G112D|HEATR7A_uc011lla.1_Missense_Mutation_p.G112D|HEATR7A_uc010mft.2_Missense_Mutation_p.G112D	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	112							binding				0						GCGGCGAGTGGCGTCCTGGTG	0.632												
NFKBIL2	4796	broad.mit.edu	37	8	145660224	145660224	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145660224A>G	uc011llg.1	-	20	3070	c.3055T>C	c.(3055-3057)TAC>CAC	p.Y1019H	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1019					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCCTGCGGTAGCGGTCAGTC	0.657												
ZNF251	90987	broad.mit.edu	37	8	145948631	145948631	+	Silent	SNP	G	G	A	rs35964302		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145948631G>A	uc003zdv.3	-	5	670	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGCCCTCACGGCCCCATGCTT	0.458												
DOCK8	81704	broad.mit.edu	37	9	312043	312043	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:312043T>C	uc003zgf.2	+	6	730	c.618T>C	c.(616-618)CCT>CCC	p.P206P	DOCK8_uc011lls.1_Silent_p.P206P|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.P138P|DOCK8_uc010mgt.2_Silent_p.P138P|DOCK8_uc003zgg.2_Silent_p.P138P|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	206					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCTGCAGCCTGACAAGCGGC	0.602												
KIAA1797	54914	broad.mit.edu	37	9	20862680	20862680	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:20862680C>A	uc003zog.1	+	18	2387	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	KIAA1797_uc003zoh.1_Missense_Mutation_p.P111H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	675						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TCTCTAGTTCCTTCCTTAACG	0.418												
C9orf72	203228	broad.mit.edu	37	9	27556644	27556644	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:27556644G>C	uc003zqq.2	-	8	1103	c.1006C>G	c.(1006-1008)CTG>GTG	p.L336V		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	336										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAGGCTGTCAGCTCGGATCTC	0.443												
RUSC2	9853	broad.mit.edu	37	9	35558263	35558263	+	Missense_Mutation	SNP	G	G	A	rs147279845	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35558263G>A	uc003zww.2	+	7	3385	c.3130G>A	c.(3130-3132)GTC>ATC	p.V1044I	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.V1044I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1044	RUN.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCCCTGCCGTCCGCGCCGT	0.572												
SPAG8	26206	broad.mit.edu	37	9	35811534	35811534	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35811534C>T	uc003zye.2	-	2	624	c.509G>A	c.(508-510)GGC>GAC	p.G170D	SPAG8_uc003zyf.2_Missense_Mutation_p.G87D|SPAG8_uc003zyg.2_Missense_Mutation_p.G170D	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	170	Gly-rich.					acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			agagccagagccagggacaga	0.114												
APBA1	320	broad.mit.edu	37	9	72047539	72047539	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:72047539C>T	uc004ahh.2	-	12	2631	c.2355G>A	c.(2353-2355)GGG>GGA	p.G785G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	785	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TGATCCGGTGCCCCACACGGA	0.577												
KIF27	55582	broad.mit.edu	37	9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86465140G>A	uc004ana.2	-	16	3574	c.3430C>T	c.(3430-3432)CGG>TGG	p.R1144W	KIF27_uc010mpw.2_Missense_Mutation_p.R1078W|KIF27_uc010mpx.2_Missense_Mutation_p.R1047W	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						ATATTATCCCGTTCCAGAACT	0.383												
KIF27	55582	broad.mit.edu	37	9	86482717	86482717	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86482717C>T	uc004ana.2	-	13	2960	c.2816G>A	c.(2815-2817)CGC>CAC	p.R939H	KIF27_uc010mpw.2_Missense_Mutation_p.R873H|KIF27_uc010mpx.2_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	939	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TAATTCTTGGCGTTGGTTCAG	0.373												
HNRNPK	3190	broad.mit.edu	37	9	86585818	86585818	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86585818C>T	uc004ang.3	-	14	1326	c.1102G>A	c.(1102-1104)GGA>AGA	p.G368R	HNRNPK_uc011lsw.1_Missense_Mutation_p.G128R|HNRNPK_uc004and.3_Missense_Mutation_p.G128R|HNRNPK_uc004ank.3_Intron|HNRNPK_uc004anf.3_Missense_Mutation_p.G368R|HNRNPK_uc004anh.3_Missense_Mutation_p.G344R|HNRNPK_uc011lsx.1_Missense_Mutation_p.G344R|HNRNPK_uc004ani.3_Intron|HNRNPK_uc004anj.3_Intron|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Missense_Mutation_p.G368R|HNRNPK_uc004anm.3_Missense_Mutation_p.G368R|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	368	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						TTACCATATCCGGAGCCACCC	0.279												
NFIL3	4783	broad.mit.edu	37	9	94171958	94171958	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:94171958T>C	uc004arh.2	-	2	1454	c.1059A>G	c.(1057-1059)TCA>TCG	p.S353S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	353	Necessary for transcriptional repression and sufficient for interaction with DR1.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						TGTCAATAGGTGAGGAAAGTT	0.433												
ASPN	54829	broad.mit.edu	37	9	95237178	95237178	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:95237178A>G	uc004ase.1	-	2	246	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Missense_Mutation_p.M1T	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	1					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						ATACTCCTTCATGGTGTCTTA	0.363												
BICD2	23299	broad.mit.edu	37	9	95482892	95482892	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:95482892C>T	uc004aso.1	-	4	809	c.752G>A	c.(751-753)CGC>CAC	p.R251H	BICD2_uc004asp.1_Missense_Mutation_p.R251H	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	251	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CTTCTGTTCGCGCTCCGTCTT	0.587												
WNK2	65268	broad.mit.edu	37	9	96080171	96080171	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:96080171C>T	uc004ati.1	+	30	6756	c.6756C>T	c.(6754-6756)ACC>ACT	p.T2252T	WNK2_uc011lud.1_Intron|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2252					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCCTCGGAACCGCCCGGAGAA	0.682												
PTCH1	5727	broad.mit.edu	37	9	98229700	98229700	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:98229700A>G	uc004avk.3	-	15	2446	c.2258T>C	c.(2257-2259)GTG>GCG	p.V753A	PTCH1_uc010mro.2_Missense_Mutation_p.V602A|PTCH1_uc010mrp.2_Missense_Mutation_p.V602A|PTCH1_uc010mrq.2_Missense_Mutation_p.V602A|PTCH1_uc004avl.3_Missense_Mutation_p.V602A|PTCH1_uc010mrr.2_Missense_Mutation_p.V687A|PTCH1_uc004avm.3_Missense_Mutation_p.V752A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	753	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGAAGATCACCACTACCTG	0.527									Basal_Cell_Nevus_syndrome			
NCBP1	4686	broad.mit.edu	37	9	100405604	100405604	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:100405604T>A	uc004axq.2	+	4	802	c.343T>A	c.(343-345)TCA>ACA	p.S115T		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	115	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				ACTTAAAGAATCATTGAAAGC	0.353												
RGS3	5998	broad.mit.edu	37	9	116269742	116269742	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:116269742C>T	uc004bhq.2	+	14	1470	c.1261C>T	c.(1261-1263)CGC>TGC	p.R421C	RGS3_uc004bhr.2_Missense_Mutation_p.R309C|RGS3_uc004bhs.2_Missense_Mutation_p.R311C|RGS3_uc004bht.2_Missense_Mutation_p.R140C|RGS3_uc010muy.2_Missense_Mutation_p.R140C|RGS3_uc004bhu.2_Missense_Mutation_p.R47C	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	421					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GCCTGAGCAGCGCCACAGCTG	0.672												
TNC	3371	broad.mit.edu	37	9	117848975	117848975	+	Silent	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:117848975G>T	uc004bjj.3	-	3	1397	c.1035C>A	c.(1033-1035)ACC>ACA	p.T345T	TNC_uc010mvf.2_Silent_p.T345T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	345	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CATGTGGGCAGGTGGGTTTCC	0.612												
CEP110	11064	broad.mit.edu	37	9	123898189	123898189	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:123898189C>T	uc004bkx.1	+	13	2162	c.2131C>T	c.(2131-2133)CGG>TGG	p.R711W	CEP110_uc004bky.1_Missense_Mutation_p.R315W|CEP110_uc004bkz.1_Missense_Mutation_p.R159W|CEP110_uc004bla.1_Missense_Mutation_p.R159W	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	711	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GCTAGAGGCTCGGCTAAACCT	0.498												
RC3H2	54542	broad.mit.edu	37	9	125643021	125643021	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:125643021C>T	uc010mwc.1	-	6	1053	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.R271Q|RC3H2_uc004bne.3_Missense_Mutation_p.R271Q|RC3H2_uc011lzf.1_Missense_Mutation_p.R8Q|RC3H2_uc011lzg.1_Missense_Mutation_p.R271Q|SNORD90_uc004bnf.1_5'Flank	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	271						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						TTCATAACTCCGAAATTCCTC	0.413												
WDR38	401551	broad.mit.edu	37	9	127616484	127616484	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:127616484G>C	uc004box.2	+	2	126	c.70G>C	c.(70-72)GTC>CTC	p.V24L	WDR38_uc011lzn.1_Intron|WDR38_uc011lzo.1_Missense_Mutation_p.V24L|WDR38_uc011lzp.1_5'UTR	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	24	WD 1.										0						CTGTTTCTAGGTCAACTCTTC	0.587												
LMX1B	4010	broad.mit.edu	37	9	129453292	129453292	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:129453292C>T	uc004bqj.2	+	3	485	c.435C>T	c.(433-435)GAC>GAT	p.D145D	LMX1B_uc004bqi.2_Silent_p.D145D|LMX1B_uc011maa.1_Silent_p.D145D	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	145	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCAAGGGTGACTACGAGAAGG	0.647									Nail-Patella_Syndrome			
SLC25A25	114789	broad.mit.edu	37	9	130864731	130864731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:130864731G>A	uc004bte.2	+	4	486	c.457G>A	c.(457-459)GAG>AAG	p.E153K	SLC25A25_uc004btb.2_Missense_Mutation_p.E187K|SLC25A25_uc004btc.2_Missense_Mutation_p.E173K|SLC25A25_uc004btd.2_Missense_Mutation_p.E185K|SLC25A25_uc004btf.2_Missense_Mutation_p.E50K	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	153	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						AAACATCCCCGAGATCATCCT	0.592												
SPTAN1	6709	broad.mit.edu	37	9	131356530	131356530	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:131356530C>T	uc004bvl.3	+	24	3405	c.3292C>T	c.(3292-3294)CGT>TGT	p.R1098C	SPTAN1_uc011mbg.1_Missense_Mutation_p.R1078C|SPTAN1_uc011mbh.1_Missense_Mutation_p.R1110C|SPTAN1_uc004bvm.3_Missense_Mutation_p.R1098C|SPTAN1_uc004bvn.3_Missense_Mutation_p.R1078C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1098	Spectrin 12.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TATGTTGTTCCGTGAAGCGAA	0.478												
PKN3	29941	broad.mit.edu	37	9	131482711	131482711	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:131482711G>T	uc004bvw.2	+	22	2889	c.2496G>T	c.(2494-2496)CAG>CAT	p.Q832H	PKN3_uc010myh.2_Missense_Mutation_p.A818S|PKN3_uc011mbk.1_Missense_Mutation_p.Q382H	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	832	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GCACCATCCAGCCCCCCTTCG	0.667												
GPR107	57720	broad.mit.edu	37	9	132863396	132863396	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:132863396C>T	uc004bze.2	+	12	1252	c.1025C>T	c.(1024-1026)GCG>GTG	p.A342V	GPR107_uc004bzb.2_Missense_Mutation_p.A153V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.A342V|GPR107_uc004bzd.2_Missense_Mutation_p.A342V	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	342	Helical; Name=3; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				TTGAAAGGGGCGCTACTCTTC	0.428												
FUBP3	8939	broad.mit.edu	37	9	133488372	133488372	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:133488372C>T	uc004bzr.1	+	5	412	c.304C>T	c.(304-306)CGG>TGG	p.R102W	FUBP3_uc010mzd.1_Missense_Mutation_p.R42W|FUBP3_uc004bzs.1_Missense_Mutation_p.R15W	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	102	KH 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCAGATTTCACGGATTCAAGC	0.383												
FIBCD1	84929	broad.mit.edu	37	9	133779540	133779540	+	Missense_Mutation	SNP	C	C	T	rs147030133	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:133779540C>T	uc004bzz.2	-	7	1542	c.1297G>A	c.(1297-1299)GAC>AAC	p.D433N	FIBCD1_uc011mcc.1_Missense_Mutation_p.D433N	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	433	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCACGCCGTCGGCATAGGAG	0.642												
NUP214	8021	broad.mit.edu	37	9	134072678	134072678	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134072678A>G	uc004cag.2	+	29	3908	c.3797A>G	c.(3796-3798)GAG>GGG	p.E1266G	NUP214_uc004cah.2_Missense_Mutation_p.E1256G|NUP214_uc004cai.2_Missense_Mutation_p.E696G|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.E92G|NUP214_uc011mcf.1_Missense_Mutation_p.E43G|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1266	Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTTCTTATGAGGCCATTCCT	0.522			T	DEK|SET|ABL1	AML|T-ALL							
PPAPDC3	84814	broad.mit.edu	37	9	134183576	134183576	+	Missense_Mutation	SNP	G	G	A	rs146890476		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134183576G>A	uc004cal.2	+	2	1022	c.718G>A	c.(718-720)GTC>ATC	p.V240I		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	240	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTCACGGACGTCCTCTCCGG	0.662												
BAT2L1	84726	broad.mit.edu	37	9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134346320C>T	uc004can.3	+	13	2112	c.2057C>T	c.(2056-2058)ACG>ATG	p.T686M	BAT2L1_uc010mzj.1_Missense_Mutation_p.T269M|BAT2L1_uc004cao.3_Missense_Mutation_p.T44M	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	686							protein binding				0						CCACGTATCACGCCCACTCGG	0.607												
POMT1	10585	broad.mit.edu	37	9	134385313	134385313	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134385313C>T	uc004cav.2	+	8	831	c.629C>T	c.(628-630)ACG>ATG	p.T210M	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.2_Missense_Mutation_p.T210M|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Missense_Mutation_p.T210M|POMT1_uc004caw.2_Missense_Mutation_p.T156M|POMT1_uc011mck.1_Missense_Mutation_p.T93M|POMT1_uc011mcl.1_Missense_Mutation_p.T58M|POMT1_uc011mcm.1_Missense_Mutation_p.T180M|POMT1_uc011mcn.1_Translation_Start_Site	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	210	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGTGTGTTCACGTACGTGCTC	0.512												
NTNG2	84628	broad.mit.edu	37	9	135073412	135073412	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135073412G>A	uc004cbh.2	+	3	1049	c.273G>A	c.(271-273)CCG>CCA	p.P91P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	91	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGCCCACCCGCCCAGGCTCA	0.647												
NTNG2	84628	broad.mit.edu	37	9	135073809	135073809	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135073809G>A	uc004cbh.2	+	3	1446	c.670G>A	c.(670-672)GGC>AGC	p.G224S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	224	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CATCTTTGCCGGCCCCGACCT	0.657												
DDX31	64794	broad.mit.edu	37	9	135487583	135487583	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135487583G>A	uc004cbq.1	-	19	2352	c.2200C>T	c.(2200-2202)CAC>TAC	p.H734Y	DDX31_uc010mzu.1_Missense_Mutation_p.H661Y	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	734						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GATCGGACGTGGAAGATGTGC	0.557												
RALGDS	5900	broad.mit.edu	37	9	135976954	135976954	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135976954G>A	uc004cco.2	-	16	2427	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'UTR|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.R791C|RALGDS_uc004ccr.2_Missense_Mutation_p.R802C|RALGDS_uc011mcv.1_Missense_Mutation_p.R774C|RALGDS_uc004ccs.2_Missense_Mutation_p.R748C|RALGDS_uc011mcw.1_Missense_Mutation_p.R874C|RALGDS_uc004ccv.1_Missense_Mutation_p.P630L|RALGDS_uc004ccu.1_Missense_Mutation_p.R572C	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	PMBL|Hodgkin Lymphona|							
REXO4	57109	broad.mit.edu	37	9	136277417	136277417	+	Splice_Site	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:136277417A>G	uc004cdm.2	-	4	1110	c.910_splice	c.e4+1	p.G304_splice	ADAMTS13_uc004cdp.3_5'Flank|REXO4_uc011mde.1_Splice_Site_p.G167_splice|REXO4_uc011mdf.1_Splice_Site_p.G167_splice|REXO4_uc004cdn.2_Splice_Site_p.G55_splice|REXO4_uc004cdo.2_Intron	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog							nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGGATGACATACCCTGCTTGA	0.498												
KCNT1	57582	broad.mit.edu	37	9	138642852	138642852	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:138642852C>T	uc011mdq.1	+	4	473	c.399C>T	c.(397-399)CGC>CGT	p.R133R	KCNT1_uc011mdr.1_Intron|KCNT1_uc010nbf.2_Silent_p.R85R|KCNT1_uc004cgo.1_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	133						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACATTGTGCGCGTCCTGCTCG	0.706												
KCNT1	57582	broad.mit.edu	37	9	138670649	138670649	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:138670649A>G	uc011mdq.1	+	23	2784	c.2710A>G	c.(2710-2712)AAC>GAC	p.N904D	KCNT1_uc011mdr.1_Missense_Mutation_p.N731D|KCNT1_uc010nbf.2_Missense_Mutation_p.N859D|KCNT1_uc004cgo.1_Missense_Mutation_p.N653D	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	904						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GACCATCGTCAACGTGCAGAC	0.637												
NOTCH1	4851	broad.mit.edu	37	9	139390651	139390651	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139390651G>T	uc004chz.2	-	34	7540	c.7540C>A	c.(7540-7542)CCT>ACT	p.P2514T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2514	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.T2512fs*1(1)|p.S2514fs*4(1)|p.S2514F(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGGACTCAGGGGACGGGGTG	0.662			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
NOTCH1	4851	broad.mit.edu	37	9	139391646	139391646	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139391646T>C	uc004chz.2	-	34	6545	c.6545A>G	c.(6544-6546)AAG>AGG	p.K2182R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2182	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCTGGGACTTCTTCCTCCG	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf172	389813	broad.mit.edu	37	9	139739734	139739734	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139739734T>G	uc011meh.1	+	1	868	c.868T>G	c.(868-870)TTC>GTC	p.F290V	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	290	Pro-rich.										0						GCCCCAAGGCTTCCGGGGCAG	0.697												
ENTPD2	954	broad.mit.edu	37	9	139946009	139946009	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139946009C>T	uc004ckw.1	-	3	395	c.339G>A	c.(337-339)GCG>GCA	p.A113A	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.A113A	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	113	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGGTGTGCCCGCGTGTCTCT	0.622												
DPP7	29952	broad.mit.edu	37	9	140005168	140005168	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:140005168C>T	uc004clh.2	-	13	1441	c.1411G>A	c.(1411-1413)GAG>AAG	p.E471K		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	471						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TTTACCCACTCGCCGATGATG	0.672												
PLCXD1	55344	broad.mit.edu	37	X	209708	209708	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:209708C>T	uc004cpc.2	+	6	868	c.556C>T	c.(556-558)CCG>TCG	p.P186S	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	186	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGGAGGTGCCGACACTGCG	0.667												
IL3RA	3563	broad.mit.edu	37	X	1471336	1471336	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1471336C>T	uc004cps.2	+	6	902	c.553C>T	c.(553-555)CGG>TGG	p.R185W	IL3RA_uc011mhd.1_Missense_Mutation_p.R107W	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	185	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R185P(1)		skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATCCTGGTGCGGGGCAGGAG	0.547												
SFRS17A	8227	broad.mit.edu	37	X	1712814	1712814	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1712814G>A	uc004cqa.2	+	2	655	c.459G>A	c.(457-459)GGG>GGA	p.G153G	SFRS17A_uc010ncx.1_Silent_p.G153G|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	153	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGGAGGGGCTGCCCTGCA	0.647												
ASMT	438	broad.mit.edu	37	X	1748728	1748728	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1748728G>A	uc004cqd.2	+	6	603	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	ASMT_uc010ncy.2_Missense_Mutation_p.R153Q|ASMT_uc004cqe.2_Missense_Mutation_p.R153Q	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	153					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGGCGAGCGGCTACAGTTC	0.567												
ARSF	416	broad.mit.edu	37	X	3030448	3030448	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:3030448C>A	uc004cre.1	+	11	1845	c.1624C>A	c.(1624-1626)CAG>AAG	p.Q542K	ARSF_uc004crf.1_Missense_Mutation_p.Q542K	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	542						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGGAACACCAGGAAACCAT	0.547												
MXRA5	25878	broad.mit.edu	37	X	3238600	3238600	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:3238600T>A	uc004crg.3	-	5	5283	c.5126A>T	c.(5125-5127)GAG>GTG	p.E1709V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1709						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTCTTGCCTCAGGGATGTT	0.428												
FRMPD4	9758	broad.mit.edu	37	X	12728602	12728602	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:12728602A>G	uc004cuz.1	+	14	2061	c.1555A>G	c.(1555-1557)AGG>GGG	p.R519G	FRMPD4_uc011mij.1_Missense_Mutation_p.R511G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	519	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TGTTGATTCCAGGAGGTCGAT	0.488												
FIGF	2277	broad.mit.edu	37	X	15402024	15402024	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:15402024G>A	uc004cwt.1	-	1	554	c.45C>T	c.(43-45)TAC>TAT	p.Y15Y		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	15					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CCAGCTGGACGTACAACATCA	0.408												
NHS	4810	broad.mit.edu	37	X	17739629	17739629	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:17739629T>C	uc004cxx.2	+	4	1259	c.921T>C	c.(919-921)AAT>AAC	p.N307N	NHS_uc011mix.1_Silent_p.N328N|NHS_uc004cxy.2_Silent_p.N151N|NHS_uc004cxz.2_Silent_p.N130N|NHS_uc004cya.2_Silent_p.N30N	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	307						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAATACACAATATCCCTTCCA	0.483												
GPR64	10149	broad.mit.edu	37	X	19013015	19013015	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:19013015A>T	uc004cyx.2	-	28	3032	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	GPR64_uc004cyy.2_Missense_Mutation_p.N953K|GPR64_uc004cyz.2_Missense_Mutation_p.N942K|GPR64_uc004czb.2_Intron|GPR64_uc004czc.2_Missense_Mutation_p.N940K|GPR64_uc004czd.2_Missense_Mutation_p.N932K|GPR64_uc004cze.2_Missense_Mutation_p.N926K|GPR64_uc004czf.2_Missense_Mutation_p.N918K|GPR64_uc004cza.2_Missense_Mutation_p.N934K|GPR64_uc004cyw.2_Intron|GPR64_uc010nfj.2_Missense_Mutation_p.N837K	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	956	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					CATACATACCATTCCCGCTTG	0.368												
CXorf23	256643	broad.mit.edu	37	X	19983736	19983736	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:19983736T>C	uc004czp.2	-	3	700	c.700A>G	c.(700-702)AGG>GGG	p.R234G	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_5'UTR|CXorf23_uc004czo.2_Missense_Mutation_p.R184G	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	234						mitochondrion				lung(1)|skin(1)	2						TTTGGGTTCCTGGCAGGCTCT	0.493												
TAB3	257397	broad.mit.edu	37	X	30870901	30870901	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:30870901G>A	uc004dcj.2	-	7	2367	c.1704C>T	c.(1702-1704)ATC>ATT	p.I568I	TAB3_uc004dck.2_Silent_p.I568I|TAB3_uc010ngl.2_Silent_p.I568I	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	568					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						TTACCGTAGGGATCGCAGTGG	0.468												
CXorf22	170063	broad.mit.edu	37	X	35969947	35969947	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:35969947A>T	uc004ddj.2	+	6	972	c.913A>T	c.(913-915)ATT>TTT	p.I305F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	305										large_intestine(1)|lung(1)|ovary(1)	3						AAGAACAGATATTGCTTTAAA	0.284												
DUSP21	63904	broad.mit.edu	37	X	44703614	44703614	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:44703614C>T	uc004dgd.2	+	1	366	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						GCTCGTGACTCGCGTCTCTAC	0.527												
KDM6A	7403	broad.mit.edu	37	X	44879953	44879953	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:44879953C>T	uc004dge.3	+	6	917	c.542C>T	c.(541-543)ACA>ATA	p.T181I	KDM6A_uc010nhk.2_Missense_Mutation_p.T181I|KDM6A_uc011mkz.1_Missense_Mutation_p.T181I|KDM6A_uc011mla.1_Missense_Mutation_p.T181I|KDM6A_uc011mlb.1_Missense_Mutation_p.T181I|KDM6A_uc011mlc.1_Intron	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	181	TPR 3.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(4)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAGTGAACACAGACTATGAG	0.343			D|N|F|S		renal|oesophageal SCC|MM							
FOXP3	50943	broad.mit.edu	37	X	49110450	49110450	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:49110450G>A	uc004dnf.3	-	9	1083	c.895C>T	c.(895-897)CGG>TGG	p.R299W	FOXP3_uc011mnb.1_Missense_Mutation_p.R322W|FOXP3_uc011mnc.1_Missense_Mutation_p.R272W|FOXP3_uc004dne.3_Missense_Mutation_p.R264W|FOXP3_uc010niq.1_Missense_Mutation_p.R264W	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	299					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GGGGCCTCCCGGGGGCCAGAC	0.637												
MSN	4478	broad.mit.edu	37	X	64959042	64959042	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:64959042C>A	uc004dwf.2	+	12	1753	c.1555C>A	c.(1555-1557)CAG>AAG	p.Q519K		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	519					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						TGAGCGTGTGCAGAAGCACCT	0.532			T	ALK	ALCL							
P2RY4	5030	broad.mit.edu	37	X	69478799	69478799	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:69478799G>A	uc004dxz.1	-	1	856	c.676C>T	c.(676-678)CGC>TGC	p.R226C		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	226	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						TGATACAGGCGACGAGCCATG	0.577												
MED12	9968	broad.mit.edu	37	X	70340970	70340970	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:70340970T>C	uc004dyy.2	+	5	902	c.703T>C	c.(703-705)TAC>CAC	p.Y235H	MED12_uc011mpq.1_Missense_Mutation_p.Y235H|MED12_uc004dyz.2_Missense_Mutation_p.Y235H|MED12_uc004dza.2_Missense_Mutation_p.Y82H	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	235					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)					GCAGTGGGATTACACCGAGAA	0.562												
GPR174	84636	broad.mit.edu	37	X	78426931	78426931	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:78426931C>A	uc004edg.1	+	1	463	c.427C>A	c.(427-429)CTG>ATG	p.L143M		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	143	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TGCTGGCTGGCTGATCATCTG	0.478										HNSCC(63;0.18)		
IRS4	8471	broad.mit.edu	37	X	107978669	107978669	+	Silent	SNP	G	G	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:107978669G>A	uc004eoc.2	-	1	939	c.906C>T	c.(904-906)ATC>ATT	p.I302I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	302	IRS-type PTB.					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						CTCCCGGACCGATGACAGTGG	0.547												
IL13RA2	3598	broad.mit.edu	37	X	114239869	114239869	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:114239869A>G	uc004epx.2	-	9	1132	c.1007T>C	c.(1006-1008)CTA>CCA	p.L336P	IL13RA2_uc010nqd.1_Missense_Mutation_p.L336P	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	336	Extracellular (Potential).|Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TTTCTTCGATAGGTCTTCACC	0.353												
RHOXF2B	727940	broad.mit.edu	37	X	119293252	119293252	+	Silent	SNP	C	C	T	rs142963365	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:119293252C>T	uc004esl.3	+	2	601	c.411C>T	c.(409-411)AAC>AAT	p.N137N		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	137	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCAGCCCAACGTCCACGCCT	0.637												
GRIA3	2892	broad.mit.edu	37	X	122551612	122551612	+	Silent	SNP	A	A	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:122551612A>C	uc004etq.3	+	12	2153	c.1860A>C	c.(1858-1860)GGA>GGC	p.G620G	GRIA3_uc004etr.3_Silent_p.G620G|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.G604G	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	620	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TGCAGCAAGGATGTGATATTT	0.393												
SLC9A6	10479	broad.mit.edu	37	X	135080679	135080679	+	Silent	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:135080679C>T	uc004ezj.2	+	4	622	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y	SLC9A6_uc004ezk.2_Silent_p.Y214Y|SLC9A6_uc011mvx.1_Silent_p.Y162Y	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	182	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCCTAGCATACGCTTTTCTTG	0.279												
MAP7D3	79649	broad.mit.edu	37	X	135314105	135314105	+	Silent	SNP	T	T	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:135314105T>C	uc004ezt.2	-	8	1102	c.1011A>G	c.(1009-1011)TCA>TCG	p.S337S	MAP7D3_uc004ezs.2_Silent_p.S301S|MAP7D3_uc011mwc.1_Silent_p.S319S|MAP7D3_uc010nsa.1_Silent_p.S295S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	337						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCACAGGGAATGAGTCCGTGC	0.577												
MAGEC1	9947	broad.mit.edu	37	X	140995606	140995606	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:140995606G>T	uc004fbt.2	+	4	2702	c.2416G>T	c.(2416-2418)GCC>TCC	p.A806S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	806							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGCCTGCCCAGTCTCC	0.562										HNSCC(15;0.026)		
HCFC1	3054	broad.mit.edu	37	X	153215718	153215718	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:153215718C>T	uc004fjp.2	-	24	6508	c.5980G>A	c.(5980-5982)GCC>ACC	p.A1994T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1994					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)					ACTTGTGTGGCCGGGCCATAG	0.627												
MANBA	4126	broad.mit.edu	37	4	103645126	103645127	+	Splice_Site	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127insA	uc003hwg.2	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.1_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor						carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGCCATTTGCTAAAAAAAAGAA	0.282												
CASK	8573	broad.mit.edu	37	X	41469154	41469159	+	Splice_Site	DEL	TACATC	TACATC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:41469154_41469159delTACATC	uc004dfl.3	-	12	1201	c.1155_splice	c.e12+1	p.D385_splice	CASK_uc004dfk.3_Splice_Site_p.D200_splice|CASK_uc004dfm.3_Splice_Site_p.D385_splice|CASK_uc004dfn.3_Splice_Site_p.D379_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						AAGACAGACTTACATCTAGTAGTGTG	0.277												
SCRN3	79634	broad.mit.edu	37	2	175263005	175263005	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:175263004_175263004TA>T	uc002uiq.3	+	2	90	c.-8_splice	c.e2-1		CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATTTTTAGTTAAAAAAAATG	0.279												
KIAA1407	57577	broad.mit.edu	37	3	113724812	113724813	+	Splice_Site	DEL	GA	GA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:113724811_113724812TGA>T	uc003eax.3	-	10	1561	c.1414_splice	c.e10-1	p.E472_splice	KIAA1407_uc011bin.1_Splice_Site|KIAA1407_uc011bio.1_Splice_Site_p.E450_splice|KIAA1407_uc011bip.1_Intron	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	472										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCAGTCTCCTGAGAGAGAGAA	0.460												
HGFAC	3083	broad.mit.edu	37	4	3449219	3449219	+	Splice_Site	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3449218_3449218GC>G	uc003ghc.3	+	11	1359	c.1356_splice	c.e11-1	p.S452_splice	HGFAC_uc010icw.3_Splice_Site_p.S459_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	452	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R455fs*91(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTTGCACAGCCCCCCCAGG	0.677												
MANBA	4126	broad.mit.edu	37	4	103645127	103645128	+	Splice_Site	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127T>TA	uc003hwg.3	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.2_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	91					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGCCATTTGCTAAAAAAAAGAA	0.282												
COL4A3BP	10087	broad.mit.edu	37	5	74696125	74696125	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACTCTGTGACTAAAAAAACAT	0.368												
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
RELN	5649	broad.mit.edu	37	7	103124101	103124102	+	Splice_Site	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:103124100_103124101A>AG	uc022ajr.1	-	62	10341	c.10181_splice	c.e62+1	p.L3394_splice	RELN_uc022ajq.1_Splice_Site_p.L3394_splice|RELN_uc010liz.3_Splice_Site_p.L3394_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3394					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCCACTTACAGGGGGACATTG	0.490												
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Splice_Site	INS	-	-	GT	rs149538549	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAACTTCCAGGTGTGTGTGTG	0.545												
RGS22	26166	broad.mit.edu	37	8	101018340	101018340	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:101018339_101018339TA>T	uc003yjb.1	-	16	2557	c.2362_splice	c.e16-1	p.V788_splice	RGS22_uc003yja.1_Splice_Site_p.V607_splice|RGS22_uc003yjc.1_Splice_Site_p.V776_splice|RGS22_uc011lgz.1_Splice_Site|RGS22_uc022azf.1_Splice_Site_p.V177_splice	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	788					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGCTCCACCTAAAAAAAATA	0.363												
RAB14	51552	broad.mit.edu	37	9	123954450	123954450	+	Splice_Site	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294												
COPB1	1315	broad.mit.edu	37	11	14510133	14510133	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCTCGATCCTAAAAAAAATA	0.294												
UGGT2	55757	broad.mit.edu	37	13	96589179	96589179	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:96589178_96589178CA>C	uc001vmt.3	-	17	2147	c.1977_splice	c.e17+1	p.L659_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	659					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTACCTACCAAAAAAACTT	0.239												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
RAB15	376267	broad.mit.edu	37	14	65417872	65417873	+	Splice_Site	DEL	GA	GA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:65417871_65417872TGA>T	uc021rut.1	-	4	328	c.247_splice	c.e4-1	p.G83_splice	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Splice_Site_p.G83_splice|RAB15_uc021rur.1_Splice_Site|RAB15_uc021rus.1_Splice_Site			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		AAATATCCCCTGAGAGAGAGAG	0.510												
FBN1	2200	broad.mit.edu	37	15	48797224	48797225	+	Splice_Site	INS	-	-	AC			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:48797223_48797224A>AAC	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCTTACCAACACACACACG	0.490												
C16orf7	9605	broad.mit.edu	37	16	89778933	89778933	+	Splice_Site	DEL	G	G	-	rs143123169	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:89778932_89778932TG>T	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAG	0.667												
CEP76	79959	broad.mit.edu	37	18	12678444	12678444	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:12678443_12678443TA>T	uc002kri.3	-	10	1446	c.1290_splice	c.e10-1	p.R430_splice	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Splice_Site_p.R252_splice|CEP76_uc010wzz.2_Splice_Site_p.R355_splice	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	430					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGATGTACCtaaaaaaatta	0.333												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
RERE	473	broad.mit.edu	37	1	8420552	8420552	+	Frame_Shift_Del	DEL	G	G	-	rs143760887	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:8420552delG	uc001ape.2	-	19	3825	c.3015delC	c.(3013-3015)CCCfs	p.P1005fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1005fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P737fs|RERE_uc001apd.2_Frame_Shift_Del_p.P451fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1005	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCAGCCCGGGGGGCTGGG	0.716												
SRRM1	10250	broad.mit.edu	37	1	24978984	24978984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:24978984delA	uc001bjm.2	+	7	1009	c.785delA	c.(784-786)GAAfs	p.E262fs	SRRM1_uc010oel.1_Frame_Shift_Del_p.E262fs|SRRM1_uc009vrh.1_Frame_Shift_Del_p.E223fs|SRRM1_uc009vri.1_Frame_Shift_Del_p.E179fs|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	262	Pro-rich.|Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTTCTCCGGAAAAAAATTCC	0.448												
ZMYM6	9204	broad.mit.edu	37	1	35485090	35485090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35485090delT	uc001byh.2	-	4	520	c.292delA	c.(292-294)ATGfs	p.M98fs	ZMYM6_uc001byf.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc010oht.1_Frame_Shift_Del_p.M1fs|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byi.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byk.2_Frame_Shift_Del_p.M98fs	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	98					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTATAAAGCATTTTTTTACAA	0.453												
PLK3	1263	broad.mit.edu	37	1	45268997	45268997	+	Frame_Shift_Del	DEL	C	C	-	rs112574988		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45268997delC	uc001cmn.2	+	8	1106	c.1006delC	c.(1006-1008)CCCfs	p.P336fs	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	336						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					AGACCTGACACCCCCCAACCC	0.577												
CYP4X1	260293	broad.mit.edu	37	1	47489621	47489621	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:47489621delC	uc001cqt.2	+	1	382	c.132delC	c.(130-132)CGCfs	p.R44fs	CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	44						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						GGGACCTGCGCCCCTTCCCAG	0.488												
PTGFR	5737	broad.mit.edu	37	1	78958519	78958519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:78958519delT	uc001din.2	+	2	357	c.91delT	c.(91-93)TTTfs	p.F31fs	PTGFR_uc001dim.2_Frame_Shift_Del_p.F31fs	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	31	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTTTCCGTATTTTTTTCAGT	0.453												
SASS6	163786	broad.mit.edu	37	1	100584676	100584676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:100584676delT	uc001dsu.2	-	7	708	c.567delA	c.(565-567)AAAfs	p.K189fs	SASS6_uc009wdz.2_Frame_Shift_Del_p.K22fs	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	189	Potential.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTAATTCTTGTTTTTTTTCTG	0.318												
SPAG17	200162	broad.mit.edu	37	1	118537093	118537093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:118537093delT	uc001ehk.2	-	35	5182	c.5114delA	c.(5113-5115)AAGfs	p.K1705fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1705						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTATCTTCCTTTTTTACTTG	0.413												
PDZK1	5174	broad.mit.edu	37	1	145762320	145762320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:145762320delA	uc001eon.1	+	9	1594	c.1497delA	c.(1495-1497)GCAfs	p.A499fs	NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Frame_Shift_Del_p.A499fs|PDZK1_uc010oza.1_Frame_Shift_Del_p.A388fs	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	499					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CGCACATGGCAAAAGAACGGG	0.438												
SV2A	9900	broad.mit.edu	37	1	149884981	149884981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:149884981delC	uc001etg.2	-	2	903	c.412delG	c.(412-414)GAGfs	p.E138fs	SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	138	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CGTTGTGCCTCCCCCCGGCCC	0.632												
ADAMTSL4	54507	broad.mit.edu	37	1	150526845	150526846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150526845_150526846insC	uc001eux.2	+	7	1372_1373	c.1136_1137insC	c.(1135-1137)TGCfs	p.C379fs	ADAMTSL4_uc001euw.2_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Ins_p.C379fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	379					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)			CCGCAGCCCTGCCCCCCTGAGC	0.639												
POGZ	23126	broad.mit.edu	37	1	151380627	151380628	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151380627_151380628delAG	uc001eyd.1	-	15	2629_2630	c.2323_2324delCT	c.(2323-2325)CTGfs	p.L775fs	POGZ_uc001eye.1_Frame_Shift_Del_p.L722fs|POGZ_uc010pdb.1_Frame_Shift_Del_p.L766fs|POGZ_uc001eyf.1_Frame_Shift_Del_p.L731fs|POGZ_uc010pdc.1_Frame_Shift_Del_p.L713fs|POGZ_uc009wmv.1_Frame_Shift_Del_p.L680fs|POGZ_uc010pdd.1_Frame_Shift_Del_p.L266fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	775	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATAGCGACACAGAGAGCAGTGT	0.475												
LCE1C	353133	broad.mit.edu	37	1	152777650	152777650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:152777650delC	uc001fap.1	-	2	356	c.305delG	c.(304-306)GGCfs	p.G102fs		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	102	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAGCCCCCCGAGGG	0.667												
FAM189B	10712	broad.mit.edu	37	1	155220390	155220390	+	Frame_Shift_Del	DEL	G	G	-	rs74953707	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155220390delG	uc001fjm.2	-	9	1793	c.1187delC	c.(1186-1188)CCAfs	p.P396fs	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Frame_Shift_Del_p.P198fs|FAM189B_uc001fjn.2_Frame_Shift_Del_p.P300fs|FAM189B_uc001fjo.2_Frame_Shift_Del_p.P378fs|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	396						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGCAGCCCGTGGGGGGCGCCG	0.721												
HMCN1	83872	broad.mit.edu	37	1	186083133	186083133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186083133delC	uc001grq.1	+	73	11383	c.11154delC	c.(11152-11154)GGCfs	p.G3718fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3718	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGGGGGGCCCCCAGAGCC	0.413												
PLA2G4A	5321	broad.mit.edu	37	1	186862228	186862228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186862228delA	uc001gsc.2	+	4	406	c.201delA	c.(199-201)ATAfs	p.I67fs	PLA2G4A_uc010pos.1_Frame_Shift_Del_p.I67fs	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	67	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATAATGACATAAACCCTGTGT	0.378												
MRC1	4360	broad.mit.edu	37	10	17865318	17865318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:17865318delA	uc001ipk.2	+	2	410	c.307delA	c.(307-309)AAAfs	p.K103fs		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	103	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						ATGGGAGTGCAAAAATGACAC	0.388												
C10orf25	220979	broad.mit.edu	37	10	45496243	45496243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:45496243delG	uc001jbv.1	-	1	94	c.65delC	c.(64-66)CCAfs	p.P22fs	C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	22						extracellular region					0						CTTCCGAGTTGGGGGGAGGAG	0.587												
ANK3	288	broad.mit.edu	37	10	61835708	61835708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:61835708delG	uc001jky.2	-	37	5123	c.4931delC	c.(4930-4932)CCTfs	p.P1644fs	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1644	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGGGGAGGCAGGGGGTGTCAT	0.418												
ENTPD7	57089	broad.mit.edu	37	10	101439083	101439085	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:101439083_101439085delTTG	uc001kqa.3	+	4	435_437	c.257_259delTTG	c.(256-261)CTTGTT>CTT	p.V88del	ENTPD7_uc009xwl.2_In_Frame_Del_p.V90del	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	88	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AATTATGGACTTGTTGTTGACTG	0.448												
CASP7	840	broad.mit.edu	37	10	115481532	115481532	+	Frame_Shift_Del	DEL	A	A	-	rs72431166		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:115481532delA	uc001lan.2	+	4	544	c.370delA	c.(370-372)AAAfs	p.K124fs	CASP7_uc001lam.2_Frame_Shift_Del_p.K124fs|CASP7_uc001lao.2_Frame_Shift_Del_p.K157fs|CASP7_uc001lap.2_Frame_Shift_Del_p.K124fs|CASP7_uc001laq.2_Frame_Shift_Del_p.K124fs|CASP7_uc010qsa.1_Frame_Shift_Del_p.K209fs|CASP7_uc010qsb.1_Frame_Shift_Del_p.K99fs	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	124					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGATCTGCTTAAAAAAGGTGA	0.269												
CHST15	51363	broad.mit.edu	37	10	125805497	125805498	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:125805497_125805498insC	uc001lhl.2	-	1	744_745	c.231_232insG	c.(229-234)GGGAAGfs	p.G77fs	CHST15_uc001lhm.2_Frame_Shift_Ins_p.G77fs|CHST15_uc001lhn.2_Frame_Shift_Ins_p.G77fs|CHST15_uc010que.1_Frame_Shift_Ins_p.G77fs|CHST15_uc001lho.2_Frame_Shift_Ins_p.G77fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	77_78	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CTACATCGCTTCCCCTTTTTGA	0.465												
KRTAP5-5	439915	broad.mit.edu	37	11	1651497	1651497	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:1651497delG	uc001lty.2	+	1	465	c.427delG	c.(427-429)GGGfs	p.G143fs		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	143	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTCCTGTGGGGGGTCCAA	0.687												
TRIM5	85363	broad.mit.edu	37	11	5701141	5701141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:5701141delC	uc001mbm.1	-	2	524	c.267delG	c.(265-267)GGGfs	p.G89fs	TRIM5_uc001mbq.1_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbo.2_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbp.2_Frame_Shift_Del_p.G89fs	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	89					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CAACTTTCTGCCCCTCTGGGC	0.532												
NRIP3	56675	broad.mit.edu	37	11	9005478	9005478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:9005478delC	uc001mhg.2	-	6	768	c.654delG	c.(652-654)GGGfs	p.G218fs	NRIP3_uc010rbu.1_3'UTR	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	218					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TGTCTGTCTTCCCCATGATCA	0.438												
OR5D18	219438	broad.mit.edu	37	11	55587636	55587638	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55587636_55587638delCTT	uc010rin.1	+	1	531_533	c.531_533delCTT	c.(529-534)CACTTC>CAC	p.F179del		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CAATCAATCACTTCTTCTGTGAG	0.433												
OR8I2	120586	broad.mit.edu	37	11	55861672	55861672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55861672delA	uc010rix.1	+	1	889	c.889delA	c.(889-891)AAAfs	p.K297fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CAAAGATGTGAAAAATGCTCT	0.393												
LTBP3	4054	broad.mit.edu	37	11	65315174	65315174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65315174delC	uc001oej.2	-	13	2234	c.1965delG	c.(1963-1965)GGGfs	p.G655fs	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Frame_Shift_Del_p.G85fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.G538fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.G655fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.G356fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G566fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	655	EGF-like 4; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGCACGAGCGCCCCCCGGCGC	0.736												
MAP3K11	4296	broad.mit.edu	37	11	65365835	65365835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65365835delC	uc001oew.2	-	10	2964	c.2471delG	c.(2470-2472)GGCfs	p.G824fs	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Frame_Shift_Del_p.G240fs|MAP3K11_uc010rol.1_Frame_Shift_Del_p.G567fs|MAP3K11_uc001oex.1_Frame_Shift_Del_p.G313fs	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	824	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GTCCTGGGGGCCCCCCTGGAA	0.701												
SF3B2	10992	broad.mit.edu	37	11	65822610	65822610	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65822610delC	uc001ogy.1	+	4	362	c.322delC	c.(322-324)CCCfs	p.P108fs	SF3B2_uc001ogx.1_Frame_Shift_Del_p.P108fs	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	108	Poly-Pro.				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						TCCTCCGCCACCCCCACCACC	0.597												
DCUN1D5	84259	broad.mit.edu	37	11	102953515	102953515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102953515delA	uc001phm.2	-	4	571	c.303delT	c.(301-303)TTTfs	p.F101fs	DCUN1D5_uc010ruw.1_Frame_Shift_Del_p.F32fs	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain	101	DCUN1.										0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTTCCTTGGTAAAAAATCCCA	0.318												
TECTA	7007	broad.mit.edu	37	11	121036077	121036077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:121036077delC	uc010rzo.1	+	16	5368	c.5368delC	c.(5368-5370)CCCfs	p.P1790fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1790					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCGAGCCACCCCCCTATGG	0.592												
UBASH3B	84959	broad.mit.edu	37	11	122526825	122526825	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:122526825delC	uc001pyi.3	+	1	428	c.68delC	c.(67-69)ACCfs	p.T23fs		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	23						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCAAAGTCACCCCCCGGAGG	0.672												
LTBR	4055	broad.mit.edu	37	12	6497628	6497630	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6497628_6497630delCTC	uc001qny.1	+	7	900_902	c.732_734delCTC	c.(730-735)TTCTCC>TTC	p.S245del	LTBR_uc010sfc.1_In_Frame_Del_p.S226del|LTBR_uc001qnz.1_In_Frame_Del_p.S240del	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	245	Helical; (Potential).				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			lung(2)	2						CCACCGTCTTCTCCTGCATCTGG	0.576												
OR6C74	254783	broad.mit.edu	37	12	55641767	55641767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:55641767delA	uc010spg.1	+	1	696	c.696delA	c.(694-696)AGAfs	p.R232fs		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CTCAACAGAGAAAAAAAGCAT	0.398												
LYZ	4069	broad.mit.edu	37	12	69744010	69744010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:69744010delA	uc001suw.2	+	2	314	c.259delA	c.(259-261)AAAfs	p.K87fs		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	87					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TAATGATGGCAAAACCCCAGG	0.408												
PPFIA2	8499	broad.mit.edu	37	12	81839361	81839364	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:81839361_81839364delCAAA	uc001szo.1	-	6	702_705	c.541_544delTTTG	c.(541-546)TTTGAGfs	p.F181fs	PPFIA2_uc010sue.1_Frame_Shift_Del_p.F81fs|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	107_108										ovary(3)|lung(2)|pancreas(1)	6						TTGTGGTGCTCAAACAAAGATTTC	0.422												
KIAA1033	23325	broad.mit.edu	37	12	105553918	105553918	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:105553918delC	uc001tld.2	+	29	3139	c.3052delC	c.(3052-3054)CCCfs	p.P1018fs	KIAA1033_uc010swr.1_Frame_Shift_Del_p.P1019fs|KIAA1033_uc010sws.1_Frame_Shift_Del_p.P830fs	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	1018					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TATAATTGTTCCCCCTCTGGT	0.343												
ASCL4	121549	broad.mit.edu	37	12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741												
TPCN1	53373	broad.mit.edu	37	12	113698206	113698206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:113698206delC	uc001tuw.2	+	3	443	c.146delC	c.(145-147)GCCfs	p.A49fs	TPCN1_uc001tux.2_Frame_Shift_Del_p.A121fs|TPCN1_uc010syt.1_5'UTR	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	49	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						GACTCCCAGGCCCCCAGTCTC	0.562												
CCDC62	84660	broad.mit.edu	37	12	123307941	123307941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:123307941delA	uc001udc.2	+	12	2175	c.2030delA	c.(2029-2031)CAAfs	p.Q677fs	CCDC62_uc010tah.1_Intron|CCDC62_uc001udf.2_Intron|CCDC62_uc001ude.2_Frame_Shift_Del_p.Q438fs	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	677						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GAGTCAGCTCAAAAAAATACC	0.353												
SUGT1	10910	broad.mit.edu	37	13	53254127	53254129	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:53254127_53254129delCAT	uc001vhc.2	+	13	1058_1060	c.833_835delCAT	c.(832-837)CCATCA>CCA	p.S281del	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_In_Frame_Del_p.S249del|SUGT1_uc010thb.1_In_Frame_Del_p.S193del|SUGT1_uc001vhd.2_In_Frame_Del_p.S138del	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	281	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AACCTATATCCATCATCATCTCC	0.315												
MYCBP2	23077	broad.mit.edu	37	13	77725048	77725048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77725048delT	uc001vkf.2	-	48	6929	c.6838delA	c.(6838-6840)ATGfs	p.M2280fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.M1684fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTAAAGACATTTTTTTCTGA	0.368												
PARP2	10038	broad.mit.edu	37	14	20824816	20824817	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:20824816_20824817insC	uc001vxc.2	+	13	1364_1365	c.1336_1337insC	c.(1336-1338)GCCfs	p.A446fs	PARP2_uc001vxd.2_Frame_Shift_Ins_p.A433fs|PARP2_uc001vxb.1_Frame_Shift_Ins_p.A446fs|PARP2_uc010tle.1_Frame_Shift_Ins_p.A196fs	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	446	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTTCGAATTGCCCCACCTGAA	0.460								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
CBLN3	643866	broad.mit.edu	37	14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24898055delG	uc001wpg.3	-	1	677	c.206delC	c.(205-207)CCTfs	p.P69fs	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		CACTCGCCCAGGGGGTGCCTC	0.677												
PSMA3	5684	broad.mit.edu	37	14	58718839	58718839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:58718839delC	uc001xdj.1	+	3	153	c.107delC	c.(106-108)ACAfs	p.T36fs	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Frame_Shift_Del_p.T36fs	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0						TGTTTCAGTACAGCTATTGGA	0.284												
RTN1	6252	broad.mit.edu	37	14	60072086	60072086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:60072086delT	uc001xen.1	-	5	2321	c.2112delA	c.(2110-2112)AAAfs	p.K704fs	RTN1_uc001xem.1_Frame_Shift_Del_p.K284fs|RTN1_uc001xek.1_Frame_Shift_Del_p.K136fs|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Frame_Shift_Del_p.K121fs	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	704	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAACTATACTTTTAAGGAAT	0.418												
SLC39A9	55334	broad.mit.edu	37	14	69890833	69890833	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:69890833delT	uc001xle.2	+	2	799	c.119delT	c.(118-120)GTTfs	p.V40fs	SLC39A9_uc001xld.3_RNA|SLC39A9_uc010aqx.2_Frame_Shift_Del_p.V40fs|SLC39A9_uc001xlf.3_Frame_Shift_Del_p.V40fs|SLC39A9_uc001xlg.3_RNA	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	40	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTGGTGACTGTTTTGGGTGCT	0.428												
NUMB	8650	broad.mit.edu	37	14	73789849	73789849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73789849delT	uc001xny.1	-	5	510	c.190delA	c.(190-192)AGAfs	p.R64fs	NUMB_uc010aro.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arp.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arq.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arr.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xoa.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xnz.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xob.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xod.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xoc.1_Frame_Shift_Del_p.R64fs|NUMB_uc010ars.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xof.1_Intron|NUMB_uc001xog.2_Frame_Shift_Del_p.R64fs|NUMB_uc001xoh.1_Frame_Shift_Del_p.R64fs	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	64	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTTTCAATCTTTTTACAGCA	0.353												
BTBD7	55727	broad.mit.edu	37	14	93760502	93760502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:93760502delA	uc001ybo.2	-	3	1190	c.864delT	c.(862-864)TTTfs	p.F288fs	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Frame_Shift_Del_p.F203fs|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Frame_Shift_Del_p.F203fs|BTBD7_uc001ybr.2_Frame_Shift_Del_p.F288fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	288	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATAAATTTCGAAAAAATGGGG	0.403												
DYNC1H1	1778	broad.mit.edu	37	14	102472436	102472436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:102472436delC	uc001yks.2	+	27	5809	c.5645delC	c.(5644-5646)ACCfs	p.T1882fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1882	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTGGTCCAGACCCCCCTCACT	0.483												
AHNAK2	113146	broad.mit.edu	37	14	105406621	105406621	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105406621delC	uc010axc.1	-	7	15287	c.15167delG	c.(15166-15168)GGTfs	p.G5056fs	AHNAK2_uc001ypx.2_Frame_Shift_Del_p.G4956fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5056						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAAGCTACCCCCTGCTGT	0.547												
AHNAK2	113146	broad.mit.edu	37	14	105419812	105419812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105419812delT	uc010axc.1	-	7	2096	c.1976delA	c.(1975-1977)AAGfs	p.K659fs	AHNAK2_uc001ypx.2_Frame_Shift_Del_p.K559fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	659						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATTTGTTCCTTTTTTAAGCG	0.423												
PACS2	23241	broad.mit.edu	37	14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105818792_105818794delCTT	uc001yqt.2	+	3	460_462	c.285_287delCTT	c.(283-288)ACCTTC>ACC	p.F96del	PACS2_uc001yqs.2_In_Frame_Del_p.F29del|PACS2_uc001yqv.2_In_Frame_Del_p.F96del|PACS2_uc001yqu.2_In_Frame_Del_p.F96del	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C15orf29	79768	broad.mit.edu	37	15	34445168	34445168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:34445168delT	uc001zhp.2	-	4	421	c.261delA	c.(259-261)AAAfs	p.K87fs	C15orf29_uc010ubz.1_5'UTR|C15orf29_uc010uca.1_Frame_Shift_Del_p.K87fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	87						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		CAGGGGACTGTTTTTTTCTGT	0.423												
RTF1	23168	broad.mit.edu	37	15	41770764	41770764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41770764delA	uc001zny.2	+	15	1771	c.1759delA	c.(1759-1761)AAAfs	p.K587fs		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	587					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TCACAACATGAAAAACCAACA	0.468												
MAP1A	4130	broad.mit.edu	37	15	43819801	43819801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:43819801delC	uc001zrt.2	+	4	6597	c.6130delC	c.(6130-6132)CCCfs	p.P2044fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2044						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCACTGTACCCCCAAGGCC	0.607												
IGDCC3	9543	broad.mit.edu	37	15	65621335	65621335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:65621335delG	uc002aos.2	-	14	2609	c.2357delC	c.(2356-2358)CCAfs	p.P786fs	IGDCC3_uc002aor.1_Frame_Shift_Del_p.P72fs	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	786	Poly-Pro.|Cytoplasmic (Potential).									ovary(3)	3						GCCTCCATCTGGGGGTGGTGG	0.697												
TMEM8A	58986	broad.mit.edu	37	16	426284	426285	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:426284_426285insC	uc002cgu.3	-	6	1204_1205	c.1075_1076insG	c.(1075-1077)GAGfs	p.E359fs	TMEM8A_uc002cgv.3_Frame_Shift_Ins_p.E166fs	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	359	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						GTCCATGTCCTCCCGCGTGACT	0.668												
CCDC78	124093	broad.mit.edu	37	16	774189	774189	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:774189delG	uc002cjg.2	-	10	1076	c.970delC	c.(970-972)CAAfs	p.Q324fs	CCDC78_uc002cjf.2_Frame_Shift_Del_p.Q173fs|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Frame_Shift_Del_p.Q83fs|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	324										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				AAAATAGCTTGGGGGTTCCCA	0.592												
IGFALS	3483	broad.mit.edu	37	16	1842147	1842147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1842147delG	uc002cmy.2	-	2	353	c.272delC	c.(271-273)CCGfs	p.P91fs	IGFALS_uc010uvn.1_Frame_Shift_Del_p.P129fs|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	91	LRR 1.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GAAGGCTGCCGGGGGGACGGA	0.682												
ZNF213	7760	broad.mit.edu	37	16	3188482	3188482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3188482delC	uc010uws.1	+	3	910	c.463delC	c.(463-465)CCCfs	p.P155fs	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Frame_Shift_Del_p.P155fs|ZNF213_uc010uwt.1_Frame_Shift_Del_p.P155fs	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CACGGGGCCTCCCCCGACGGT	0.677												
RNF40	9810	broad.mit.edu	37	16	30779458	30779458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30779458delC	uc002dzq.2	+	13	1709	c.1586delC	c.(1585-1587)ACCfs	p.T529fs	RNF40_uc010caa.2_Frame_Shift_Del_p.T529fs|RNF40_uc010cab.2_Frame_Shift_Del_p.T429fs|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Frame_Shift_Del_p.T529fs|RNF40_uc010vfb.1_Frame_Shift_Del_p.T221fs|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	529					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GCCCACTCCACCCCCAACCTG	0.617												
FBXL19	54620	broad.mit.edu	37	16	30941646	30941646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30941646delG	uc002eab.2	+	7	1260	c.1102delG	c.(1102-1104)GGGfs	p.G368fs	FBXL19_uc002dzz.1_Frame_Shift_Del_p.G56fs|FBXL19_uc002eaa.1_Frame_Shift_Del_p.G267fs	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	368							DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						GGAGAACCGTGGGGGGCGGCG	0.746												
MMP2	4313	broad.mit.edu	37	16	55527106	55527106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55527106delC	uc002ehz.3	+	9	1684	c.1373delC	c.(1372-1374)ACCfs	p.T458fs	MMP2_uc010vhd.1_Frame_Shift_Del_p.T382fs|MMP2_uc010ccc.2_Frame_Shift_Del_p.T408fs|MMP2_uc002eia.3_5'UTR	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	458	Required for inhibitor TIMP2 binding.|Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACCGGCCCCACCCCCACGCTG	0.582												
ZCCHC14	23174	broad.mit.edu	37	16	87445883	87445883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:87445883delG	uc002fjz.1	-	12	2060	c.2033delC	c.(2032-2034)ACAfs	p.T678fs	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Frame_Shift_Del_p.T454fs	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	678					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTGTTGGCTGTGTACAGAGC	0.522												
RHBDL3	162494	broad.mit.edu	37	17	30648240	30648240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:30648240delC	uc002hhe.1	+	9	1221	c.1207delC	c.(1207-1209)CCCfs	p.P403fs	RHBDL3_uc010csw.1_Frame_Shift_Del_p.P395fs|RHBDL3_uc010csx.1_Frame_Shift_Del_p.S369fs|RHBDL3_uc010csy.1_Frame_Shift_Del_p.P305fs|RHBDL3_uc002hhf.1_Frame_Shift_Del_p.P305fs	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	403					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				GCTGCCGCCTCCCCCCTGAGG	0.592												
NKIRAS2	28511	broad.mit.edu	37	17	40174474	40174474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40174474delG	uc002hyq.2	+	3	217	c.152delG	c.(151-153)CGGfs	p.R51fs	NKIRAS2_uc010wgd.1_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hyr.2_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hys.2_Frame_Shift_Del_p.R51fs|NKIRAS2_uc010wge.1_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hyt.2_Frame_Shift_Del_p.R51fs	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	51	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAGACAGACCGGGGGGTGCGA	0.567												
HELZ	9931	broad.mit.edu	37	17	65105425	65105425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:65105425delA	uc010wqk.1	-	29	4486	c.4299delT	c.(4297-4299)TTTfs	p.F1433fs	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Frame_Shift_Del_p.F1432fs|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTGCACTATTAAAAAAAGCAT	0.537												
ANKRD12	23253	broad.mit.edu	37	18	9263859	9263861	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:9263859_9263861delACT	uc002knv.2	+	10	5993_5995	c.5736_5738delACT	c.(5734-5739)AAACTA>AAA	p.L1913del	ANKRD12_uc002knw.2_In_Frame_Del_p.L1890del|ANKRD12_uc002knx.2_In_Frame_Del_p.L1890del	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1913						nucleus				ovary(2)|central_nervous_system(1)	3						TAAGGATGAAACTACGTTTGCAA	0.296												
AQP4	361	broad.mit.edu	37	18	24442217	24442217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:24442217delC	uc002kwa.2	-	2	439	c.376delG	c.(376-378)GCCfs	p.A126fs	AQP4_uc002kvz.2_Frame_Shift_Del_p.A104fs	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	126	Helical; (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAATGATGGCCCCCAGGCAC	0.557												
DSEL	92126	broad.mit.edu	37	18	65179868	65179869	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:65179868_65179869insT	uc002lke.1	-	2	3231_3232	c.2007_2008insA	c.(2005-2010)AAACGAfs	p.K669fs		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	659_660						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TGAGTCCATCGTTTTTTAAATT	0.391												
NWD1	284434	broad.mit.edu	37	19	16860457	16860457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:16860457delC	uc002neu.3	+	6	1426	c.1004delC	c.(1003-1005)ACCfs	p.T335fs	NWD1_uc002net.3_Frame_Shift_Del_p.T200fs|NWD1_uc002nev.3_Frame_Shift_Del_p.T129fs			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	335	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						AAGCAGCACACCCCCCTGGTA	0.617												
MLL4	9757	broad.mit.edu	37	19	36223858	36223858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36223858delC	uc010eei.2	+	29	6408	c.6408delC	c.(6406-6408)CTCfs	p.L2136fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2136					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGTCACTCCCCCCGGCGC	0.662												
ARHGEF1	9138	broad.mit.edu	37	19	42406477	42406479	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42406477_42406479delGAG	uc002orx.2	+	16	1577_1579	c.1468_1470delGAG	c.(1468-1470)GAGdel	p.E491del	ARHGEF1_uc002ory.2_In_Frame_Del_p.E458del|ARHGEF1_uc002orz.2_In_Frame_Del_p.E329del|ARHGEF1_uc002osa.2_In_Frame_Del_p.E506del|ARHGEF1_uc002osb.2_In_Frame_Del_p.E473del|ARHGEF1_uc002osc.2_In_Frame_Del_p.E245del|ARHGEF1_uc002osd.2_In_Frame_Del_p.E150del|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	491	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTACCTCATCGAGGAGATCGGAG	0.640												
POU2F2	5452	broad.mit.edu	37	19	42596301	42596302	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42596301_42596302insG	uc002osp.2	-	13	1386_1387	c.1319_1320insC	c.(1318-1320)CCGfs	p.P440fs	POU2F2_uc002osn.2_Frame_Shift_Ins_p.P424fs|POU2F2_uc002oso.2_Frame_Shift_Ins_p.P213fs|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Frame_Shift_Ins_p.P440fs	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	440					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				TGGTGGTGGCCGGGGGTGGGGG	0.569												
GRLF1	2909	broad.mit.edu	37	19	47424841	47424841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:47424841delC	uc010ekv.2	+	1	2909	c.2909delC	c.(2908-2910)TCCfs	p.S970fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	970					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GTGTTTAACTCCCCCCGGGCA	0.473												
SHANK1	50944	broad.mit.edu	37	19	51169796	51169796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51169796delG	uc002psx.1	-	22	5440	c.5421delC	c.(5419-5421)CCCfs	p.P1807fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.P1191fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1807					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCCTGCCGTGGGGGGTCCTG	0.711												
MZF1	7593	broad.mit.edu	37	19	59073814	59073816	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:59073814_59073816delGAG	uc002qto.2	-	6	2389_2391	c.1828_1830delCTC	c.(1828-1830)CTCdel	p.L610del	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_In_Frame_Del_p.L610del	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	610	C2H2-type 9.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGTGAGCTTGAGGCGCTGGCTG	0.670												
FAM82A1	151393	broad.mit.edu	37	2	38201322	38201323	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:38201322_38201323delGA	uc002rql.2	+	3	715_716	c.592_593delGA	c.(592-594)GAGfs	p.E198fs	FAM82A1_uc002rqn.1_Frame_Shift_Del_p.E376fs|FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E53fs|FAM82A1_uc002rqm.2_Frame_Shift_Del_p.E53fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	family with sequence similarity 82, member A1	198						cytoplasm|integral to membrane|microtubule|spindle pole	binding			ovary(1)	1						TGGCAAGTCGGAGAGTTTTGAA	0.376												
FOXN2	3344	broad.mit.edu	37	2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-	rs149269949		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:48602092delA	uc002rwh.1	+	7	1121	c.806delA	c.(805-807)CAAfs	p.Q269fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	269					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCATTGCAAAAAAAGAGG	0.383												
PELI1	57162	broad.mit.edu	37	2	64323400	64323401	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:64323400_64323401insA	uc002scs.3	-	5	4587_4588	c.548_549insT	c.(547-549)TTGfs	p.L183fs	PELI1_uc002sct.3_Frame_Shift_Ins_p.L183fs|PELI1_uc002scr.3_Frame_Shift_Ins_p.L4fs	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	183					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						CATTAGTGGTCAAGCCATCCAT	0.426												
FBXO48	554251	broad.mit.edu	37	2	68691370	68691370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:68691370delC	uc002seo.2	-	4	847	c.439delG	c.(439-441)GAAfs	p.E147fs		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	F-box protein 48	147											0						TCTAGAATTTCCCCCCATGTA	0.388												
ALMS1	7840	broad.mit.edu	37	2	73827831	73827831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:73827831delA	uc002sje.1	+	20	11809	c.11698delA	c.(11698-11700)AAAfs	p.K3900fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.K3856fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.K3286fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3898					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAACGGTGCCAAAAAACACAC	0.448												
MAP3K2	10746	broad.mit.edu	37	2	128096511	128096511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:128096511delT	uc002toj.1	-	2	185	c.120delA	c.(118-120)AAAfs	p.K40fs	MAP3K2_uc010flz.1_Frame_Shift_Del_p.K40fs	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	40					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TAAATACCTGTTTTTTTGGTG	0.333												
KIF5C	3800	broad.mit.edu	37	2	149861973	149861973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:149861973delA	uc010zbu.1	+	22	2808	c.2440delA	c.(2440-2442)AAAfs	p.K814fs	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Frame_Shift_Del_p.K96fs	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	814					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACCCGAGTTAAAAAAGTGAG	0.423												
RIF1	55183	broad.mit.edu	37	2	152319553	152319553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:152319553delA	uc002txm.2	+	30	3649	c.3519delA	c.(3517-3519)AGAfs	p.R1173fs	RIF1_uc002txl.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txn.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txo.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1173					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATGAAAGAAAAAAAGCTT	0.353												
SCN3A	6328	broad.mit.edu	37	2	165997164	165997165	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165997164_165997165insG	uc002ucx.2	-	13	2507_2508	c.2015_2016insC	c.(2014-2016)CCAfs	p.P672fs	SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTATCACCTCTGGGGGAAGTTG	0.475												
SCN9A	6335	broad.mit.edu	37	2	167055359	167055359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:167055359delT	uc010fpl.2	-	27	6098	c.5757delA	c.(5755-5757)AAAfs	p.K1919fs	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1930						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAGCCATATCTTTTTTATTGA	0.348												
SESTD1	91404	broad.mit.edu	37	2	179986628	179986628	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179986628delT	uc002uni.3	-	13	1461	c.1311delA	c.(1309-1311)AAAfs	p.K437fs	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	437	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACCTTGACCTTTTTCACGCA	0.418												
AOX1	316	broad.mit.edu	37	2	201469483	201469483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201469483delC	uc002uvx.2	+	9	835	c.734delC	c.(733-735)TCCfs	p.S245fs		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	245	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGTGGTTTTCCCCCGTGACC	0.463												
AOX1	316	broad.mit.edu	37	2	201477410	201477410	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201477410delT	uc002uvx.2	+	14	1443	c.1342delT	c.(1342-1344)TTTfs	p.F448fs	AOX1_uc010zhf.1_Frame_Shift_Del_p.F4fs|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	448					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATGAGAGTCTTTTTTGGAGA	0.473												
SLC4A11	83959	broad.mit.edu	37	20	3215425	3215425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3215425delA	uc002wig.2	-	2	300	c.252delT	c.(250-252)TTTfs	p.F84fs	SLC4A11_uc010zqe.1_Frame_Shift_Del_p.F111fs|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Frame_Shift_Del_p.F68fs	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	84	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TGACATTGACAAAAAAACGGA	0.587												
SLC24A3	57419	broad.mit.edu	37	20	19646521	19646521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:19646521delA	uc002wrl.2	+	8	898	c.701delA	c.(700-702)GAAfs	p.E234fs		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	234	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						ATTTATGATGAAAAAGTTTCC	0.279												
ADNP	23394	broad.mit.edu	37	20	49510942	49510943	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49510942_49510943insT	uc002xvt.1	-	5	653_654	c.308_309insA	c.(307-309)AATfs	p.N103fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.N103fs	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGAGAATCCTATTTTCAAAGTC	0.416												
ITSN1	6453	broad.mit.edu	37	21	35138206	35138206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:35138206delA	uc002yta.1	+	10	1084	c.816delA	c.(814-816)GGAfs	p.G272fs	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmg.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmi.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gmj.2_Frame_Shift_Del_p.G156fs|ITSN1_uc002ysy.2_Frame_Shift_Del_p.G272fs|ITSN1_uc002ysx.2_Frame_Shift_Del_p.G235fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.G272fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.G272fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Del_p.G206fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	272	EF-hand 2.|EH 2.|2 (Potential).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						ATCAAGATGGAAAACTTACAG	0.383												
LZTR1	8216	broad.mit.edu	37	22	21348214	21348216	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:21348214_21348216delAGG	uc002zto.2	+	13	1458_1460	c.1355_1357delAGG	c.(1354-1359)AAGGAG>AAG	p.E454del	LZTR1_uc002ztn.2_In_Frame_Del_p.E413del|LZTR1_uc011ahy.1_In_Frame_Del_p.E435del|LZTR1_uc010gsr.1_In_Frame_Del_p.E325del|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	454	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTTGTGCAGAAGGAGGAGTGCGT	0.645												
CHEK2	11200	broad.mit.edu	37	22	29115460	29115460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:29115460delA	uc003adu.1	-	5	678	c.606delT	c.(604-606)TTTfs	p.F202fs	CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Frame_Shift_Del_p.F111fs|CHEK2_uc010gvi.1_Frame_Shift_Del_p.F202fs|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Intron|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.F245fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.F6fs	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	202					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CAGTCAGATCAAAAAAGACAA	0.289			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
AP1B1	162	broad.mit.edu	37	22	29727880	29727880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:29727880delG	uc003afj.2	-	18	2519	c.2335delC	c.(2335-2337)CTCfs	p.L779fs	AP1B1_uc003afi.2_Frame_Shift_Del_p.L772fs|AP1B1_uc003afk.2_Frame_Shift_Del_p.L772fs|AP1B1_uc003afl.2_Frame_Shift_Del_p.L752fs|AP1B1_uc003afh.2_5'UTR|AP1B1_uc011ako.1_Frame_Shift_Del_p.L332fs	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	779					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TGGACCTGGAGGGGGGTGGCG	0.652												
TMEM43	79188	broad.mit.edu	37	3	14183281	14183281	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14183281delA	uc003byk.2	+	12	1443	c.1189delA	c.(1189-1191)AAAfs	p.K397fs		NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	397	Nuclear (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						GGTGCCAGCCAAAAAGTTGGA	0.642												
RBM15B	29890	broad.mit.edu	37	3	51430740	51430742	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51430740_51430742delAGG	uc003dbd.2	+	1	2010_2012	c.1910_1912delAGG	c.(1909-1914)AAGGAG>AAG	p.E638del		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	638					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAGCCGCAAGGAGAACCACTC	0.631												
GLT8D1	55830	broad.mit.edu	37	3	52731828	52731828	+	Frame_Shift_Del	DEL	C	C	-	rs115960994	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52731828delC	uc003dfi.3	-	4	377	c.238delG	c.(238-240)GCCfs	p.A80fs	GLT8D1_uc003dfj.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	80	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGCAATGGCCCCCCCAAGC	0.483												
CCDC66	285331	broad.mit.edu	37	3	56597857	56597857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:56597857delA	uc003dhz.2	+	4	335	c.248delA	c.(247-249)GAAfs	p.E83fs	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Frame_Shift_Del_p.E49fs|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Frame_Shift_Del_p.E83fs	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	83										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCAAAAGGTGAAAAAAATGGA	0.358												
DNAH12	201625	broad.mit.edu	37	3	57528532	57528532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:57528532delG	uc003dit.2	-	2	247	c.66delC	c.(64-66)CCCfs	p.P22fs	DNAH12_uc003diu.2_Frame_Shift_Del_p.P22fs	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	22	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						GATGGACAATGGGGGGTAACT	0.413												
ROBO1	6091	broad.mit.edu	37	3	78710235	78710235	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:78710235delA	uc003dqe.2	-	16	2473	c.2265delT	c.(2263-2265)TTTfs	p.F755fs	ROBO1_uc003dqb.2_Frame_Shift_Del_p.F716fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.F719fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.F719fs|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Frame_Shift_Del_p.F327fs|ROBO1_uc003dqf.1_Frame_Shift_Del_p.F434fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	755	Extracellular (Potential).|Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAAATTCATTAAAAAAAGGGC	0.398												
OR5K2	402135	broad.mit.edu	37	3	98216757	98216757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:98216757delC	uc011bgx.1	+	1	233	c.233delC	c.(232-234)ACCfs	p.T78fs		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TGTGCTATTACCCCCAAAATG	0.428												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
EIF5A2	56648	broad.mit.edu	37	3	170625513	170625513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:170625513delT	uc003fhd.2	-	2	213	c.83delA	c.(82-84)AACfs	p.N28fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	28					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CACGAAGCCGTTTTTGCGCAA	0.517												
TBL1XR1	79718	broad.mit.edu	37	3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTTTTCTCCATTTTTTGCAGA	0.418												
ABCC5	10057	broad.mit.edu	37	3	183685490	183685490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:183685490delA	uc003fmg.2	-	12	1991	c.1826delT	c.(1825-1827)TTAfs	p.L609fs	ABCC5_uc011bqt.1_Frame_Shift_Del_p.L137fs|ABCC5_uc010hxl.2_Frame_Shift_Del_p.L609fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	609	Helical; (Potential).|ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TACCTGGCCTAAAATGGCTGA	0.448												
DLG1	1739	broad.mit.edu	37	3	196857450	196857450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:196857450delT	uc003fxo.3	-	12	1402	c.1212delA	c.(1210-1212)AAAfs	p.K404fs	DLG1_uc011bub.1_Frame_Shift_Del_p.K288fs|DLG1_uc011buc.1_Frame_Shift_Del_p.K288fs|DLG1_uc011bud.1_Frame_Shift_Del_p.K87fs|DLG1_uc003fxn.3_Frame_Shift_Del_p.K404fs|DLG1_uc011bue.1_Frame_Shift_Del_p.K371fs|DLG1_uc010ial.2_Frame_Shift_Del_p.K404fs|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Frame_Shift_Del_p.K371fs|DLG1_uc010ian.2_Frame_Shift_Del_p.K271fs	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	404	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TACTTGTGGGTTTTGCCACTT	0.338												
OTOP1	133060	broad.mit.edu	37	4	4199303	4199303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:4199303delG	uc003ghp.1	-	5	1288	c.1258delC	c.(1258-1260)CGCfs	p.R420fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	420					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGTGTAGCGGGGGTGGCCC	0.572												
PTPN13	5783	broad.mit.edu	37	4	87691032	87691032	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:87691032delA	uc003hpz.2	+	29	5080	c.4600delA	c.(4600-4602)AAAfs	p.K1534fs	PTPN13_uc003hpy.2_Frame_Shift_Del_p.K1539fs|PTPN13_uc003hqa.2_Frame_Shift_Del_p.K1515fs|PTPN13_uc003hqb.2_Frame_Shift_Del_p.K1343fs|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1534	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAAGGGTTAAAAAGCTCTT	0.373												
MANBA	4126	broad.mit.edu	37	4	103645126	103645127	+	Splice_Site	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127insA	uc003hwg.2	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.1_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor						carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGCCATTTGCTAAAAAAAAGAA	0.282												
ZNF827	152485	broad.mit.edu	37	4	146700596	146700596	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:146700596delA	uc003ikn.2	-	9	2499	c.2451delT	c.(2449-2451)TTTfs	p.F817fs	ZNF827_uc003ikm.2_Frame_Shift_Del_p.F817fs|ZNF827_uc010iox.2_Frame_Shift_Del_p.F467fs|ZNF827_uc003ikl.2_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	817	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CGTCACAGGGAAAAAGCTGGT	0.493												
PLEKHG4B	153478	broad.mit.edu	37	5	171386	171386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:171386delG	uc003jak.2	+	14	2859	c.2809delG	c.(2809-2811)GTGfs	p.V937fs		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	937	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCGGCCCGTGCAGCGTGT	0.687												
LRRC14B	389257	broad.mit.edu	37	5	191707	191707	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:191707delC	uc003jal.1	+	1	82	c.54delC	c.(52-54)CACfs	p.H18fs		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	18										skin(1)	1						TGGTGTCCCACCCCCAGGTGG	0.642												
CTNND2	1501	broad.mit.edu	37	5	11384949	11384949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:11384949delG	uc003jfa.1	-	7	1150	c.1005delC	c.(1003-1005)CCCfs	p.P335fs	CTNND2_uc010itt.2_Frame_Shift_Del_p.P244fs|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	335					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ACTGCACGGTGGGGGGCGAGG	0.687												
MTMR12	54545	broad.mit.edu	37	5	32235098	32235100	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:32235098_32235100delGAA	uc003jhq.2	-	14	1650_1652	c.1480_1482delTTC	c.(1480-1482)TTCdel	p.F494del	MTMR12_uc010iuk.2_In_Frame_Del_p.F494del|MTMR12_uc010iul.2_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	494	Myotubularin phosphatase.|Interaction with MTM1.					cytoplasm	phosphatase activity			ovary(1)	1						GAGGTGAATTGAAGAAGAAGGTG	0.419												
MAP3K1	4214	broad.mit.edu	37	5	56177984	56177986	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:56177984_56177986delCTT	uc003jqw.3	+	14	3458_3460	c.2957_2959delCTT	c.(2956-2961)CCTTCT>CCT	p.S989del		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	989					cellular response to mechanical stimulus|innate immune response|MyD88-dependent 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	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTGTCAACCCCTTCTTCTTCTAC	0.458												
ACTBL2	345651	broad.mit.edu	37	5	56778450	56778450	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:56778450delG	uc003jrm.2	-	1	187	c.85delC	c.(85-87)CGGfs	p.R29fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AACACAGCCCGGGGGGCATCG	0.582												
LYSMD3	116068	broad.mit.edu	37	5	89814745	89814748	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89814745_89814748delTCTC	uc003kjr.2	-	3	957_960	c.809_812delGAGA	c.(808-813)AGAGAAfs	p.R270fs	LYSMD3_uc010jaz.1_Frame_Shift_Del_p.E112fs|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	270_271	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ATTTTCCATTTCTCTCTGCTGTGA	0.373												
APC	324	broad.mit.edu	37	5	112176242	112176243	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112176242_112176243delTT	uc010jby.2	+	16	5331_5332	c.4951_4952delTT	c.(4951-4953)TTTfs	p.F1651fs	APC_uc011cvt.1_Frame_Shift_Del_p.F1633fs|APC_uc003kpz.3_Frame_Shift_Del_p.F1651fs|APC_uc003kpy.3_Frame_Shift_Del_p.F1651fs|APC_uc010jbz.2_Frame_Shift_Del_p.F1368fs|APC_uc010jca.2_Frame_Shift_Del_p.F951fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1651	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.K1192fs*3(1)|p.?(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)		ACCTATAAACTTTTCCACAGCT	0.450		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)		
PCDHB14	56122	broad.mit.edu	37	5	140604247	140604247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140604247delT	uc003ljb.2	+	1	1170	c.1170delT	c.(1168-1170)CCTfs	p.P390fs	PCDHB14_uc011dal.1_Frame_Shift_Del_p.P237fs	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	390	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAACCTCCCTTTTTTCCTGA	0.443												
TCERG1	10915	broad.mit.edu	37	5	145843206	145843206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:145843206delG	uc003lob.2	+	5	1025	c.985delG	c.(985-987)GTGfs	p.V329fs	TCERG1_uc003loc.2_Frame_Shift_Del_p.V329fs|TCERG1_uc011dbt.1_Frame_Shift_Del_p.V329fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	329	Pro-rich.|Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCACACCTGTGCAAACCGT	0.507												
GRPEL2	134266	broad.mit.edu	37	5	148730613	148730613	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:148730613delT	uc003lqj.2	+	4	572	c.446delT	c.(445-447)CTTfs	p.L149fs	GRPEL2_uc011dca.1_Frame_Shift_Del_p.F122fs	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial precursor	149					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTGTTGCTTTTAGAAGCA	0.473												
SQSTM1	8878	broad.mit.edu	37	5	179250925	179250925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:179250925delC	uc003mkw.3	+	3	464	c.369delC	c.(367-369)CACfs	p.H123fs	SQSTM1_uc011dgr.1_Frame_Shift_Del_p.H39fs|SQSTM1_uc011dgs.1_Frame_Shift_Del_p.H39fs|SQSTM1_uc003mkv.3_Frame_Shift_Del_p.H123fs|SQSTM1_uc003mkx.2_Frame_Shift_Del_p.H39fs	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	123	ZZ-type.|Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATGGTGCACCCCAATGTGA	0.607									Paget_Disease_of_Bone			
BTN1A1	696	broad.mit.edu	37	6	26509183	26509183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26509183delC	uc003nif.3	+	7	1382	c.1362delC	c.(1360-1362)GGCfs	p.G454fs		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	454	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CTTTCTCTGGCCCCCTCCGGC	0.478												
HIST1H1B	3009	broad.mit.edu	37	6	27835239	27835241	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:27835239_27835241delCTT	uc003njx.2	-	1	119_121	c.67_69delAAG	c.(67-69)AAGdel	p.K23del		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	23					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTAGTTGCCTTCTTCTTAGCC	0.606												
BAT3	7917	broad.mit.edu	37	6	31610030	31610031	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31610030_31610031insA	uc003nvg.3	-	15	2417_2418	c.2103_2104insT	c.(2101-2106)TTTACCfs	p.F701fs	BAT3_uc003nvf.3_Frame_Shift_Ins_p.F695fs|BAT3_uc003nvh.3_Frame_Shift_Ins_p.F695fs|BAT3_uc003nvi.3_Frame_Shift_Ins_p.F695fs|BAT3_uc011dnw.1_Frame_Shift_Ins_p.F695fs|BAT3_uc011dnx.1_Frame_Shift_Ins_p.F569fs	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	701_702					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						ACCACTGAGGTAAAAAACTCCG	0.634												
CAPN11	11131	broad.mit.edu	37	6	44145055	44145057	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44145055_44145057delTGT	uc003owt.1	+	12	1352_1354	c.1314_1316delTGT	c.(1312-1317)AATGTT>AAT	p.V441del	CAPN11_uc011dvn.1_In_Frame_Del_p.V95del	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	441	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAGGGCAATGTTGTGGTCTGC	0.601												
ENPP5	59084	broad.mit.edu	37	6	46135796	46135796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46135796delA	uc003oxz.1	-	2	412	c.204delT	c.(202-204)TTTfs	p.F68fs	ENPP5_uc003oya.1_Frame_Shift_Del_p.F68fs|ENPP5_uc011dvz.1_Intron|ENPP5_uc010jzc.1_Frame_Shift_Del_p.F68fs	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	68						extracellular region|integral to membrane	hydrolase activity				0						TTTTTGTAATAAAAACATTAG	0.348												
FAM135A	57579	broad.mit.edu	37	6	71235557	71235558	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:71235557_71235558insT	uc003pfj.2	+	13	2903_2904	c.2770_2771insT	c.(2770-2772)GTTfs	p.V924fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.V728fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.V711fs|FAM135A_uc003pfl.2_Frame_Shift_Ins_p.V591fs|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Frame_Shift_Ins_p.V295fs|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	924										central_nervous_system(1)	1						TTTACAATTTGTTTTTTCAGAT	0.371												
IMPG1	3617	broad.mit.edu	37	6	76751759	76751760	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:76751759_76751760insT	uc003pik.1	-	2	281_282	c.151_152insA	c.(151-153)ATGfs	p.M51fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	51					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CATTTTGTACATTTTTTCAGTA	0.356												
PDSS2	57107	broad.mit.edu	37	6	107780431	107780431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:107780431delG	uc003prt.2	-	1	349	c.59delC	c.(58-60)CCGfs	p.P20fs	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Frame_Shift_Del_p.P20fs|PDSS2_uc003pru.2_Frame_Shift_Del_p.P20fs|PDSS2_uc003prv.2_Frame_Shift_Del_p.P20fs	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	20					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CAGGCGACGCGGGGAACCCGA	0.617											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXO3	2309	broad.mit.edu	37	6	108985249	108985249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:108985249delG	uc003psk.2	+	3	1529	c.1213delG	c.(1213-1215)GGGfs	p.G405fs	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Frame_Shift_Del_p.G405fs|FOXO3_uc011ean.1_Frame_Shift_Del_p.G185fs|FOXO3_uc010kdj.1_Frame_Shift_Del_p.G185fs	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	405					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATCGCCCACTGGGGGACTCAT	0.587												
CLVS2	134829	broad.mit.edu	37	6	123376954	123376954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:123376954delT	uc003pzi.1	+	5	1548	c.679delT	c.(679-681)TTTfs	p.F227fs		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	227	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TTTATAGATATTTTTGCATGG	0.438												
EYA4	2070	broad.mit.edu	37	6	133846386	133846386	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:133846386delA	uc003qec.3	+	19	2291	c.1833delA	c.(1831-1833)GCAfs	p.A611fs	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Frame_Shift_Del_p.A588fs|EYA4_uc011ecs.1_Frame_Shift_Del_p.A617fs|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	611					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAGGCAGCAAAAAAGGTAA	0.398												
RSPH3	83861	broad.mit.edu	37	6	159399331	159399331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:159399331delT	uc003qrx.2	-	7	1523	c.1333delA	c.(1333-1335)ACCfs	p.T445fs	RSPH3_uc010kju.2_Frame_Shift_Del_p.T349fs	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	445										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TATTCCATGGTTTTTTCAACT	0.294												
C7orf50	84310	broad.mit.edu	37	7	1049694	1049694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1049694delT	uc003sju.2	-	3	285	c.215delA	c.(214-216)AAGfs	p.K72fs	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.K72fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.K72fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	72							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTTCCGTTCCTTTTTCAGCTT	0.647												
TNRC18	84629	broad.mit.edu	37	7	5391519	5391519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5391519delA	uc003soi.3	-	17	5750	c.5401delT	c.(5401-5403)TGTfs	p.C1801fs	TNRC18_uc003soj.2_Frame_Shift_Del_p.C183fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1801							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGCAGCAGACAAAACGGCTGC	0.602												
NAMPT	10135	broad.mit.edu	37	7	105908966	105908966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105908966delT	uc003vdq.2	-	6	995	c.687delA	c.(685-687)AAAfs	p.K229fs	NAMPT_uc003vdr.1_Frame_Shift_Del_p.K229fs|NAMPT_uc011klu.1_Frame_Shift_Del_p.K142fs	NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	229					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						TTCCATAATATTTTTTAATTA	0.358												
MLL3	58508	broad.mit.edu	37	7	151921130	151921132	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:151921130_151921132delTCT	uc003wla.2	-	20	3510_3512	c.3291_3293delAGA	c.(3289-3294)GAAGAT>GAT	p.E1097del	MLL3_uc003wkz.2_In_Frame_Del_p.E158del	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1097	PHD-type 6.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGAATAAGATCTTCTTCTCTAT	0.360			N		medulloblastoma							
SOX7	83595	broad.mit.edu	37	8	10583646	10583646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:10583646delG	uc003wtf.2	-	2	848	c.769delC	c.(769-771)CTGfs	p.L257fs	SOX7_uc011kwz.1_Frame_Shift_Del_p.L309fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	257					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		AGGGAGCCCAGGGGGTGGCTA	0.687												
OR2S2	56656	broad.mit.edu	37	9	35957386	35957386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35957386delT	uc011lpi.1	-	1	766	c.710delA	c.(709-711)AAGfs	p.K237fs		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAAGACCTTTTTCCTCCC	0.507												
TMC1	117531	broad.mit.edu	37	9	75404223	75404223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:75404223delA	uc004aiz.1	+	15	1754	c.1214delA	c.(1213-1215)GAAfs	p.E405fs	TMC1_uc010moz.1_Frame_Shift_Del_p.E363fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Del_p.E259fs|TMC1_uc010mpa.1_Frame_Shift_Del_p.E259fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	405	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GGGTGGTGGGAAAAAAATGAA	0.428												
CASK	8573	broad.mit.edu	37	X	41469154	41469159	+	Splice_Site	DEL	TACATC	TACATC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:41469154_41469159delTACATC	uc004dfl.3	-	12	1201	c.1155_splice	c.e12+1	p.D385_splice	CASK_uc004dfk.3_Splice_Site_p.D200_splice|CASK_uc004dfm.3_Splice_Site_p.D385_splice|CASK_uc004dfn.3_Splice_Site_p.D379_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						AAGACAGACTTACATCTAGTAGTGTG	0.277												
MAGEE2	139599	broad.mit.edu	37	X	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-	rs61732441	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587												
TAF9B	51616	broad.mit.edu	37	X	77387116	77387118	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:77387116_77387118delATC	uc004eda.2	-	7	816_818	c.745_747delGAT	c.(745-747)GATdel	p.D249del		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	249	Poly-Asp.				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CTTACATAATATCATTGTCATCA	0.355												
TCEAL1	9338	broad.mit.edu	37	X	102884959	102884973	+	In_Frame_Del	DEL	TCGGAGGAGCAGTCC	TCGGAGGAGCAGTCC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:102884959_102884973delTCGGAGGAGCAGTCC	uc004eks.2	+	3	289_303	c.115_129delTCGGAGGAGCAGTCC	c.(115-129)TCGGAGGAGCAGTCCdel	p.SEEQS39del	TCEAL1_uc004ekt.2_In_Frame_Del_p.SEEQS39del|TCEAL1_uc004eku.2_In_Frame_Del_p.SEEQS39del	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	48_52	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.S39S(1)		ovary(1)	1						GGAGCAGTCTTCGGAGGAGCAGTCCTCGGAGGAGG	0.614												
PARK7	11315	broad.mit.edu	37	1	8025476	8025477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:8025475_8025476C>CA	uc001aou.4	+	2	287_288	c.182_183C>CA	c.(181-183)gcafs	p.A61fs	PARK7_uc001aox.4_Frame_Shift_Ins_p.A61fs|PARK7_uc001aov.4_Frame_Shift_Ins_p.A61fs	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	61					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGATGCAAAAAAAGAGG	0.421												
CLCN6	1185	broad.mit.edu	37	1	11894024	11894024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11894023_11894023CT>C	uc001ate.4	+	14	1575	c.1462_1462CT>C	c.(1462-1464)cttfs	p.L488fs	CLCN6_uc010oat.2_Frame_Shift_Del_p.L204fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.L466fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	488					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAAGTGGCCTTTTTGTGCC	0.488												
PADI3	51702	broad.mit.edu	37	1	17603075	17603075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:17603074_17603074GC>G	uc001bai.3	+	11	1408	c.1368_1368GC>G	c.(1366-1368)cagfs	p.Q456fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	456					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAGGTGCAGCCCCCCGTGG	0.567												
MAN1C1	57134	broad.mit.edu	37	1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGAC	0.639												
RPS6KA1	6195	broad.mit.edu	37	1	26885311	26885312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:26885310_26885311T>TC	uc001bmr.1	+	13	1260_1261	c.1097_1098T>TC	c.(1096-1098)atcfs	p.I366fs	RPS6KA1_uc010ofe.1_Frame_Shift_Ins_p.I274fs|RPS6KA1_uc010off.1_Frame_Shift_Ins_p.I350fs|RPS6KA1_uc001bms.1_Frame_Shift_Ins_p.I375fs|RPS6KA1_uc009vsl.1_Frame_Shift_Ins_p.I209fs	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	366	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673												
ARID1A	8289	broad.mit.edu	37	1	27057937	27057938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:27057936_27057937G>GC	uc001bmv.1	+	2	2017_2018	c.1644_1645G>GC	c.(1642-1647)cagcccfs	p.Q548fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q165fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	548					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y551fs*72(1)|p.Q548*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ZMYM4	9202	broad.mit.edu	37	1	35836080	35836080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35836079_35836079TA>T	uc001byt.3	+	6	1112	c.1032_1032TA>T	c.(1030-1032)tgtfs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Del_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Del_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCC	0.478												
CSF3R	1441	broad.mit.edu	37	1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637												
RLF	6018	broad.mit.edu	37	1	40704624	40704624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:40704623_40704623GT>G	uc001cfc.4	+	7	4280	c.4249_4249GT>G	c.(4249-4251)gttfs	p.V1417fs	RLF_uc001cfd.4_Frame_Shift_Del_p.V1108fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1417					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTGCCCTGCTGTTTTTTATAC	0.383												
KIAA0494	9813	broad.mit.edu	37	1	47152515	47152515	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:47152514_47152514CT>C	uc001cqk.4	-	7	1993	c.1016_1016AG>G	c.(1015-1017)agafs	p.R339fs	KIAA0494_uc010omh.1_Frame_Shift_Del_p.R275fs|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Frame_Shift_Del_p.R131fs	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	339							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CAAAGACTGTCTTTTCAGAGT	0.368												
FAM151A	338094	broad.mit.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592												
SH3GLB1	51100	broad.mit.edu	37	1	87188335	87188337	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:87188334_87188336AAGG>A	uc001dly.3	+	3	785_787	c.455_457AAGG>A	c.(454-459)gaagga>gAga	p.G153del	SH3GLB1_uc001dlw.3_In_Frame_Del_p.G153del|SH3GLB1_uc001dlz.3_In_Frame_Del_p.G53del|SH3GLB1_uc001dlx.3_In_Frame_Del_p.G153del	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	153	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AACTTTATAGAAGGAGATTACAA	0.291												
BCL9	607	broad.mit.edu	37	1	147090982	147090982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:147090981_147090981GC>G	uc001epq.3	+	7	1760	c.1020_1020GC>G	c.(1018-1020)gagfs	p.E340fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.E266fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	340	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGTGGCGAGCCCCCCACAC	0.592			T	"""IGH@, IGL@"""	B-ALL							
GJA5	2702	broad.mit.edu	37	1	147230513	147230513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:147230512_147230512AT>A	uc021ovl.1	-	0	835	c.835_835AT>T	c.(835-837)ttcfs	p.F279fs	GJA5_uc001eps.1_Frame_Shift_Del_p.F279fs|GJA5_uc001ept.1_Frame_Shift_Del_p.F279fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	279					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGATTGAAGAATTTTCCCCCA	0.542												
ADAMTSL4	54507	broad.mit.edu	37	1	150526846	150526847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150526845_150526846G>GC	uc009wlw.3	+	5	1294_1295	c.1136_1137G>GC	c.(1135-1137)tgcfs	p.C379fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.C379fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	379					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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)			CCGCAGCCCTGCCCCCCTGAGC	0.639												
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158653210_158653210GT>G	uc001fst.1	-	2	540	c.341_341AC>C	c.(340-342)acafs	p.T114fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	114					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	p.T114A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTTCCCTTGTTTTTTCCAG	0.383												
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582												
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGT	0.473												
CEP170	9859	broad.mit.edu	37	1	243328300	243328301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:243328299_243328300A>AT	uc021plo.1	-	12	3370_3371	c.2962_2963T>AT	c.(2962-2964)atgfs	p.M988fs	CEP170_uc021plp.1_Frame_Shift_Ins_p.M890fs|CEP170_uc021plq.1_Frame_Shift_Ins_p.M890fs|CEP170_uc001hzv.1_Frame_Shift_Ins_p.M366fs	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	988	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTCTTTTCCATTTTTTCCCTA	0.411												
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATG	0.368												
OR2T4	127074	broad.mit.edu	37	1	248525058	248525059	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248525057_248525058C>CT	uc001ieh.1	+	0	175_176	c.175_176C>CT	c.(175-177)cttfs	p.L59fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCAGCACTACTTTGTGTGGTC	0.490												
PELI1	57162	broad.mit.edu	37	2	64323401	64323402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:64323400_64323401C>CA	uc002scs.4	-	4	4587_4588	c.548_549G>TG	c.(547-549)ttgfs	p.L183fs	PELI1_uc002sct.4_Frame_Shift_Ins_p.L183fs|PELI1_uc002scr.4_Frame_Shift_Ins_p.L4fs	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	183					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CATTAGTGGTCAAGCCATCCAT	0.426												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EIF5B	9669	broad.mit.edu	37	2	100015270	100015271	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100015269_100015270C>CA	uc002tab.3	+	22	3636_3637	c.3452_3453C>CA	c.(3451-3453)gcafs	p.A1151fs	EIF5B_uc010yvq.2_Frame_Shift_Ins_p.A133fs	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1151					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGGATGTTGCAAAAAAAGGAC	0.312												
CCDC148	130940	broad.mit.edu	37	2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:159077216_159077216AT>A	uc002tzq.3	-	10	1575	c.1261_1261AT>T	c.(1261-1263)tacfs	p.Y421fs	CCDC148_uc002tzr.3_Frame_Shift_Del_p.Y269fs|CCDC148_uc010foh.3_Frame_Shift_Del_p.Y134fs|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	421	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGGCCCAGTATTTTTTTATC	0.318												
SCN3A	6328	broad.mit.edu	37	2	165997165	165997166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165997164_165997165T>TG	uc002ucx.3	-	12	2507_2508	c.2015_2016A>CA	c.(2014-2016)ccafs	p.P672fs	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P671P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTATCACCTCTGGGGGAAGTTG	0.475												
STAT4	6775	broad.mit.edu	37	2	191898701	191898702	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:191898700_191898701C>CA	uc002usm.2	-	18	1966_1967	c.1651_1652G>TG	c.(1651-1653)tggfs	p.W551fs	STAT4_uc002usn.2_Frame_Shift_Ins_p.W551fs|STAT4_uc010zgk.1_Frame_Shift_Ins_p.W396fs|STAT4_uc002uso.2_Frame_Shift_Ins_p.W551fs	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	551					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAAT	0.287												
STK25	10494	broad.mit.edu	37	2	242438541	242438541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:242438540_242438540TC>T	uc002wbm.3	-	5	906	c.635_635GA>A	c.(634-636)gagfs	p.E212fs	STK25_uc002wbl.3_Frame_Shift_Del_p.E31fs|STK25_uc002wbn.3_Frame_Shift_Del_p.E212fs|STK25_uc002wbo.3_Frame_Shift_Del_p.E135fs|STK25_uc010zos.2_Frame_Shift_Del_p.E118fs|STK25_uc010zot.2_Frame_Shift_Del_p.E138fs|STK25_uc002wbp.3_Frame_Shift_Del_p.E212fs|STK25_uc010fzo.3_Frame_Shift_Del_p.E135fs|STK25_uc010zou.2_Frame_Shift_Del_p.E118fs|STK25_uc010zov.2_Frame_Shift_Del_p.E118fs	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	212	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GTTTGGAGGCTCCCCCTTGGC	0.617												
ZNF621	285268	broad.mit.edu	37	3	40574091	40574092	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40574090_40574091CTT>C	uc003ckm.2	+	4	1045_1046	c.829_830CTT>C	c.(829-831)cttfs	p.L277fs	ZNF621_uc003ckn.2_Frame_Shift_Del_p.L277fs|ZNF621_uc003cko.2_Frame_Shift_Del_p.L242fs|ZNF621_uc011aze.1_Frame_Shift_Del_p.L269fs	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTGTAGGTCACTTTTTATTGTC	0.436												
CYP8B1	1582	broad.mit.edu	37	3	42916909	42916909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42916908_42916908TC>T	uc003cmh.3	-	0	726	c.401_401GA>A	c.(400-402)gatfs	p.D134fs	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	134					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTTCAAGCCATCCCCCCTCAG	0.502												
SETD2	29072	broad.mit.edu	37	3	47103666	47103666	+	Frame_Shift_Del	DEL	T	T	-	rs36092203		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47103665_47103665CT>C	uc003cqv.3	-	14	6568	c.6482_6482AG>G	c.(6481-6483)aggfs	p.R2161fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.R2094fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2094	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTCATCTGGCCTTTTTGTTCC	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma							
PTPN23	25930	broad.mit.edu	37	3	47452322	47452322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47452321_47452321AC>A	uc003crf.1	+	19	3129	c.3033_3033AC>A	c.(3031-3033)ccafs	p.P1011fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.P976fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.P881fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1011	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.L1014fs*68(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGCCGCCACCCCCCCTAC	0.687												
SMARCC1	6599	broad.mit.edu	37	3	47677559	47677559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47677558_47677558AT>A	uc003crq.2	-	22	2563	c.2445_2445AT>T	c.(2443-2445)aatfs	p.N815fs	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Frame_Shift_Del_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	815	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTTTTCACTATTTTTTTCAT	0.358												
DNAH1	25981	broad.mit.edu	37	3	52378637	52378639	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52378636_52378638AAGG>A	uc011bef.2	+	8	1678_1680	c.1417_1419AAGG>A	c.(1417-1419)aag>A	p.K473del	DNAH1_uc003ddt.1_In_Frame_Del_p.K473del	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCCCAAGAAGGAGGAGGAGC	0.596												
ROBO2	6092	broad.mit.edu	37	3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(2)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431												
KIAA1407	57577	broad.mit.edu	37	3	113724812	113724813	+	Splice_Site	DEL	GA	GA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:113724811_113724812TGA>T	uc003eax.3	-	10	1561	c.1414_splice	c.e10-1	p.E472_splice	KIAA1407_uc011bin.1_Splice_Site|KIAA1407_uc011bio.1_Splice_Site_p.E450_splice|KIAA1407_uc011bip.1_Intron	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	472										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCAGTCTCCTGAGAGAGAGAA	0.460												
SERPINI2	5276	broad.mit.edu	37	3	167189546	167189546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:167189545_167189545AT>A	uc003fes.1	-	1	179	c.108_108AT>T	c.(106-108)aatfs	p.N36fs	SERPINI2_uc003fer.1_Frame_Shift_Del_p.N26fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.N26fs	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	26					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.Q35Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAAATTCGGTATTTTTTTGAG	0.363												
TMEM41A	90407	broad.mit.edu	37	3	185212518	185212519	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:185212517_185212518G>GA	uc003fpj.2	-	3	563_564	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446												
HGFAC	3083	broad.mit.edu	37	4	3449219	3449219	+	Splice_Site	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3449218_3449218GC>G	uc003ghc.3	+	11	1359	c.1356_splice	c.e11-1	p.S452_splice	HGFAC_uc010icw.3_Splice_Site_p.S459_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	452	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R455fs*91(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTTGCACAGCCCCCCCAGG	0.677												
UGT2B7	7364	broad.mit.edu	37	4	69962871	69962871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:69962870_69962870TA>T	uc003heg.4	+	0	678	c.632_632TA>T	c.(631-633)gtafs	p.V211fs	UGT2B7_uc010ihq.3_Frame_Shift_Del_p.V211fs	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	211					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGAGAGGGTAAAAAATATG	0.333												
MANBA	4126	broad.mit.edu	37	4	103645127	103645128	+	Splice_Site	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127T>TA	uc003hwg.3	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.2_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	91					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGCCATTTGCTAAAAAAAAGAA	0.282												
CYP2U1	113612	broad.mit.edu	37	4	108870643	108870643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:108870642_108870642TA>T	uc003hyp.3	+	3	1508	c.1425_1425TA>T	c.(1423-1425)attfs	p.I475fs	CYP2U1_uc011cfi.2_Frame_Shift_Del_p.I266fs	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	475					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GACAACTAATTAAAAAAGAAA	0.338												
CCDC110	256309	broad.mit.edu	37	4	186379967	186379968	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186379966_186379967G>GT	uc003ixu.4	-	5	1850_1851	c.1774_1775C>AC	c.(1774-1776)acafs	p.T592fs	CCDC110_uc003ixv.4_Frame_Shift_Ins_p.T555fs|CCDC110_uc011ckt.1_Frame_Shift_Ins_p.T592fs	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	592						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAGCTGGTGTGTTTTTTTCTCT	0.307												
SORBS2	8470	broad.mit.edu	37	4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACC	0.353												
COL4A3BP	10087	broad.mit.edu	37	5	74696125	74696125	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACTCTGTGACTAAAAAAACAT	0.368												
PAPD4	167153	broad.mit.edu	37	5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302												
AFF4	27125	broad.mit.edu	37	5	132232627	132232627	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:132232626_132232626GT>G	uc003kyd.3	-	10	2104	c.1696_1696AC>C	c.(1696-1698)caafs	p.Q566fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.Q244fs|AFF4_uc003kye.1_Frame_Shift_Del_p.Q566fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	566					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTTGGGTTGTTTTTTGCCT	0.512												
BRD8	10902	broad.mit.edu	37	5	137505021	137505022	+	Frame_Shift_Ins	INS	-	-	G	rs150525307	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137505020_137505021C>CG	uc003lcf.1	-	7	587_588	c.532_533G>CG	c.(532-534)cggfs	p.R178fs	BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Frame_Shift_Ins_p.R34fs|BRD8_uc003lcg.3_Frame_Shift_Ins_p.R178fs|BRD8_uc003lci.3_Frame_Shift_Ins_p.R178fs|BRD8_uc011cym.2_Frame_Shift_Ins_p.R162fs|BRD8_uc011cyn.1_Frame_Shift_Ins_p.R137fs|BRD8_uc010jes.1_Frame_Shift_Ins_p.R45fs	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	178					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R178Q(2)|p.R178fs*20(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTAACCTCCGGGGGGGTGTT	0.441												
PCDH1	5097	broad.mit.edu	37	5	141242815	141242815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141242814_141242814TG>T	uc003llp.3	-	2	3199	c.3082_3082CA>A	c.(3082-3084)aaafs	p.K1028fs	PCDH1_uc011dbf.2_Frame_Shift_Del_p.K1006fs|PCDH1_uc003llq.3_Frame_Shift_Del_p.K1028fs	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	1028					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTG	0.637												
LARP1	23367	broad.mit.edu	37	5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644												
MRPL22	29093	broad.mit.edu	37	5	154339601	154339602	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:154339600_154339601TTA>T	uc003lvy.4	+	5	438_439	c.400_401TTA>T	c.(400-402)ttafs	p.L134fs	MRPL22_uc003lvz.4_Frame_Shift_Del_p.L54fs	NM_014180	NP_001014990	Q9NWU5	RM22_HUMAN	Homo sapiens mitochondrial ribosomal protein L22 (MRPL22), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGTCCAATTTATATATAGGT	0.312												
STK10	6793	broad.mit.edu	37	5	171517345	171517346	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:171517344_171517345G>GT	uc003mbo.1	-	9	1876_1877	c.1576_1577C>AC	c.(1576-1578)accfs	p.T526fs		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515												
HIVEP1	3096	broad.mit.edu	37	6	12120206	12120207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:12120205_12120206G>GA	uc003nac.3	+	3	356_357	c.177_178G>GA	c.(175-180)ctgaaafs	p.L59fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	59					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGAATCACCTGAAAAAAATACC	0.396												
C6orf62	81688	broad.mit.edu	37	6	24718771	24718773	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24718770_24718772TCTC>T	uc003nel.3	-	0	632_634	c.125_127GAGA>A	c.(124-129)gagaag>gAag	p.K46del		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	46						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAAATTACCTTCTCCTTGAATAC	0.300												
TAP1	6890	broad.mit.edu	37	6	32818901	32818902	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:32818900_32818901CCT>C	uc003ocg.3	-	3	1205_1206	c.1050_1051AGG>G	c.(1048-1053)gaggacfs	p.E350fs	TAP1_uc011dqi.2_Frame_Shift_Del_p.E89fs	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	350	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GTGGACGTGTCCTCTGTTACCC	0.510												
SLC39A7	7922	broad.mit.edu	37	6	33169558	33169558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33169557_33169557AT>A	uc003odf.3	+	2	564	c.447_447AT>A	c.(445-447)ccafs	p.P149fs	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Frame_Shift_Del_p.P149fs|SLC39A7_uc011dqv.2_Frame_Shift_Del_p.P24fs|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	149						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAGCAGCTCCATTTTTTGTCC	0.552												
B3GALT4	8705	broad.mit.edu	37	6	33245224	33245226	+	In_Frame_Del	DEL	CTT	CTT	-	rs148070574		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33245223_33245225CCTT>C	uc003odr.3	+	0	307_309	c.27_29CCTT>C	c.(25-30)ctcctt>ctCt	p.9_10LL>L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	9					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCCGGCGCCTCCTTCTCGCCGCT	0.680												
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:34951142_34951142AC>A	uc003ojx.4	+	6	1094	c.952_952AC>A	c.(952-954)accfs	p.T318fs	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGATAAAACCCCCCCACC	0.423												
PRICKLE4	29964	broad.mit.edu	37	6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41752758_41752758AG>A	uc011duf.1	+	4	574	c.326_326AG>A	c.(325-327)cagfs	p.Q109fs	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	69	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGACAGGGGGTAGCC	0.617												
LMBRD1	55788	broad.mit.edu	37	6	70500357	70500358	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:70500356_70500357C>CA	uc003pfa.3	-	1	353_354	c.77_78G>TG	c.(76-78)ttgfs	p.L26fs	LMBRD1_uc003pez.3_5'UTR|LMBRD1_uc010kal.3_5'UTR|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	26					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGCAGAATGCCAAAATAGCCTG	0.361												
FAM135A	57579	broad.mit.edu	37	6	71235558	71235559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:71235557_71235558G>GT	uc003pfj.3	+	12	2903_2904	c.2770_2771G>GT	c.(2770-2772)gttfs	p.V924fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.V728fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.V711fs|FAM135A_uc003pfl.3_Frame_Shift_Ins_p.V591fs|FAM135A_uc003pfn.3_Intron|FAM135A_uc003pfo.1_Frame_Shift_Ins_p.V295fs|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	924										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTACAATTTGTTTTTTCAGAT	0.371												
SLC17A5	26503	broad.mit.edu	37	6	74304881	74304881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:74304880_74304880CA>C	uc003phn.4	-	10	1536	c.1408_1408TG>G	c.(1408-1410)ggtfs	p.G470fs	SLC17A5_uc010kax.3_Frame_Shift_Del_p.G129fs|SLC17A5_uc010kay.3_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	470					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATGGCACCAAAAACATTA	0.368												
IMPG1	3617	broad.mit.edu	37	6	76751760	76751761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:76751759_76751760A>AT	uc003pik.1	-	1	281_282	c.151_152T>AT	c.(151-153)atgfs	p.M51fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	51					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.M51I(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CATTTTGTACATTTTTTCAGTA	0.356												
ELOVL4	6785	broad.mit.edu	37	6	80629257	80629257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:80629256_80629256CA>C	uc003pja.4	-	4	869	c.550_550TG>G	c.(550-552)ggafs	p.G184fs	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	184					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AACTGGGCTCCAAAAAATGCT	0.328												
RNGTT	8732	broad.mit.edu	37	6	89554159	89554159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:89554158_89554158AT>A	uc003pmr.2	-	10	1407	c.1187_1187AT>T	c.(1186-1188)atgfs	p.M396fs	RNGTT_uc003pms.2_Frame_Shift_Del_p.M396fs|RNGTT_uc011dzu.1_Frame_Shift_Del_p.M336fs|RNGTT_uc003pmt.2_Frame_Shift_Del_p.M396fs	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	396	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCCAGTCTTCATTTTTTCGTG	0.348												
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:158508008_158508009A>AC	uc003qqx.2	+	22	3436_3437	c.3330_3331A>AC	c.(3328-3333)agacccfs	p.R1110fs	SYNJ2_uc003qqw.2_Frame_Shift_Ins_p.R1110fs|SYNJ2_uc003qqy.2_Frame_Shift_Ins_p.R873fs|SYNJ2_uc003qqz.2_Frame_Shift_Ins_p.R727fs|SYNJ2_uc003qra.2_Frame_Shift_Ins_p.R453fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1110	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634												
MICALL2	79778	broad.mit.edu	37	7	1478544	1478544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1478543_1478543AG>A	uc003skj.4	-	9	2202	c.2055_2055CT>T	c.(2053-2055)cctfs	p.P685fs	MICALL2_uc003ski.4_Frame_Shift_Del_p.P172fs	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	685						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTTCCTGGCCAGGGGGCTCCG	0.667												
PAPOLB	56903	broad.mit.edu	37	7	4901238	4901238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:4901237_4901237AT>A	uc003snk.3	-	0	389	c.205_205AT>T	c.(205-207)ttafs	p.L69fs	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	68					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity	p.L68V(2)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGATTATTTAATTTTTCCAAA	0.448												
SLC29A4	222962	broad.mit.edu	37	7	5334519	5334520	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5334518_5334519C>CG	uc003sod.3	+	5	733_734	c.572_573C>CG	c.(571-573)acgfs	p.T191fs	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Frame_Shift_Ins_p.T191fs|SLC29A4_uc003soe.3_Frame_Shift_Ins_p.T177fs	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	191					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TACGGGTACACGGGGATGCTGC	0.594												
CBX3	11335	broad.mit.edu	37	7	26245999	26245999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:26245998_26245998GA>G	uc003sxt.3	+	2	414	c.35_35GA>G	c.(34-36)ggafs	p.G12fs	CBX3_uc003sxu.3_Frame_Shift_Del_p.G12fs|CBX3_uc003sxv.3_Frame_Shift_Del_p.G12fs	NM_007276	NP_057671	Q13185	CBX3_HUMAN	Homo sapiens chromobox homolog 3 (CBX3), transcript variant 1, mRNA.	12					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	p.G12G(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						CAAAAAATGGGAAAAAAACAG	0.318												
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
MTERF	7978	broad.mit.edu	37	7	91502949	91502949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:91502948_91502948CT>C	uc003ulc.1	-	2	1236	c.1160_1160AG>G	c.(1159-1161)agafs	p.R387fs	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Frame_Shift_Del_p.R367fs|MTERF_uc010leu.1_Frame_Shift_Del_p.R367fs	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	387	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGCTTCATATCTTTTTTTACT	0.318												
RELN	5649	broad.mit.edu	37	7	103124101	103124102	+	Splice_Site	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:103124100_103124101A>AG	uc022ajr.1	-	62	10341	c.10181_splice	c.e62+1	p.L3394_splice	RELN_uc022ajq.1_Splice_Site_p.L3394_splice|RELN_uc010liz.3_Splice_Site_p.L3394_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3394					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCCACTTACAGGGGGACATTG	0.490												
RINT1	60561	broad.mit.edu	37	7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105182901_105182901TA>T	uc003vda.1	+	3	551	c.320_320TA>T	c.(319-321)ttafs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	107					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGAAGTGCCTTAAAAAATGCA	0.353												
CFTR	1080	broad.mit.edu	37	7	117120192	117120192	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:117120191_117120191CT>C	uc003vjd.3	+	0	175	c.43_43CT>C	c.(43-45)cttfs	p.L15fs	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	15					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTCTCCAAACTTTTTTTCAG	0.567									Cystic Fibrosis			
C7orf58	79974	broad.mit.edu	37	7	120911388	120911388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:120911387_120911387CA>C	uc003vjq.4	+	21	3218	c.2771_2771CA>C	c.(2770-2772)gcafs	p.A924fs		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	924						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGATACTGCAAAAAAACAT	0.353												
JHDM1D	80853	broad.mit.edu	37	7	139790972	139790972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:139790971_139790971CT>C	uc003vvm.3	-	19	2753	c.2749_2749AG>G	c.(2749-2751)ggafs	p.G917fs	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	917					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGA	0.433												
GIMAP7	168537	broad.mit.edu	37	7	150217889	150217889	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150217888_150217888GT>G	uc003whk.3	+	1	956	c.826_826GT>G	c.(826-828)gttfs	p.V276fs	GIMAP7_uc022apu.1_Frame_Shift_Del_p.V276fs	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	276							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTTAAAGATGTTTTTAATAG	0.249												
MTUS1	57509	broad.mit.edu	37	8	17611619	17611619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:17611618_17611618CT>C	uc003wxv.3	-	1	2173	c.1699_1699AG>G	c.(1699-1701)gcafs	p.A567fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Del_p.A567fs|MTUS1_uc010lsz.3_Frame_Shift_Del_p.A567fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	567						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGAATTTCTGCTTTTTTGTCT	0.403												
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Splice_Site	INS	-	-	GT	rs149538549	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAACTTCCAGGTGTGTGTGTG	0.545												
MCM4	4173	broad.mit.edu	37	8	48883979	48883979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:48883978_48883978TA>T	uc003xqk.2	+	12	2704	c.1878_1878TA>T	c.(1876-1878)cctfs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Del_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Del_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTGGAATCCTAAAAAAACAA	0.408												
ASPH	444	broad.mit.edu	37	8	62593555	62593555	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:62593554_62593554CA>C	uc003xuj.3	-	2	564	c.295_295TG>G	c.(295-297)gatfs	p.D99fs	ASPH_uc011leg.2_Frame_Shift_Del_p.D70fs|ASPH_uc003xuo.2_Frame_Shift_Del_p.D99fs|ASPH_uc003xul.3_Frame_Shift_Del_p.D85fs|ASPH_uc011lei.2_Frame_Shift_Del_p.D85fs|ASPH_uc011lej.2_Frame_Shift_Del_p.D85fs|ASPH_uc011leh.2_Frame_Shift_Del_p.D85fs|ASPH_uc003xum.3_Frame_Shift_Del_p.D99fs|ASPH_uc003xun.3_Frame_Shift_Del_p.D99fs|ASPH_uc011lek.2_Frame_Shift_Del_p.D99fs|ASPH_uc011lel.2_Frame_Shift_Del_p.D85fs|ASPH_uc011lem.2_Frame_Shift_Del_p.D70fs|ASPH_uc003xur.3_Frame_Shift_Del_p.D114fs	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	99					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCATCCACATCAAAATCTCCA	0.294												
JPH1	56704	broad.mit.edu	37	8	75233270	75233270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:75233269_75233269TC>T	uc003yae.3	-	0	294	c.254_254GA>A	c.(253-255)gagfs	p.E85fs	JPH1_uc003yaf.3_Frame_Shift_Del_p.E85fs|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	85	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGTGACCACTCCCCCCGGTA	0.667												
RUNX1T1	862	broad.mit.edu	37	8	93027002	93027002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:93027001_93027001AG>A	uc022axs.1	-	3	638	c.451_451CT>T	c.(451-453)tcafs	p.S151fs	RUNX1T1_uc003yfc.2_Frame_Shift_Del_p.S65fs|RUNX1T1_uc010mam.3_Frame_Shift_Del_p.S65fs|RUNX1T1_uc003yfe.2_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yfd.3_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axo.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc010mao.3_Frame_Shift_Del_p.S65fs|RUNX1T1_uc011lgi.2_Frame_Shift_Del_p.S103fs|RUNX1T1_uc022axp.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axq.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axr.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axt.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axu.1_Frame_Shift_Del_p.S72fs|RUNX1T1_uc022axv.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc003yfb.2_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yff.1_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yfg.2_Frame_Shift_Del_p.S55fs	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	92	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGGTGGTGAGGGGGCGCCA	0.517												
KCNS2	3788	broad.mit.edu	37	8	99441332	99441332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99441331_99441331TG>T	uc003yin.3	+	1	1474	c.1124_1124TG>T	c.(1123-1125)gtgfs	p.V375fs	KCNS2_uc022azb.1_Frame_Shift_Del_p.V375fs	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	375						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ATGACCACAGTGGGGTACGGG	0.612												
VPS13B	157680	broad.mit.edu	37	8	100523709	100523710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:100523708_100523709C>CA	uc003yiv.3	+	28	4787_4788	c.4676_4677C>CA	c.(4675-4677)ccafs	p.P1559fs	VPS13B_uc003yiw.3_Frame_Shift_Ins_p.P1534fs|VPS13B_uc003yix.1_Frame_Shift_Ins_p.P1029fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1559					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTTTATTCCAAAAACAGAAG	0.347												
TNFRSF11B	4982	broad.mit.edu	37	8	119936627	119936627	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:119936626_119936626AT>A	uc003yon.4	-	4	1516	c.1193_1193AT>T	c.(1192-1194)atafs	p.I398fs		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	398					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TAAGCAGCTTATTTTTACTGA	0.393												
COL14A1	7373	broad.mit.edu	37	8	121256240	121256240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:121256239_121256239GA>G	uc003yox.3	+	19	2736	c.2471_2471GA>G	c.(2470-2472)ggafs	p.G824fs	COL14A1_uc003yoy.3_Frame_Shift_Del_p.G502fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	824	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G824R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCGCTCCTGGAAAAACCTGT	0.468												
RNF139	11236	broad.mit.edu	37	8	125498553	125498554	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:125498552_125498553TAC>T	uc003yrc.3	+	1	1005_1006	c.662_663TAC>T	c.(661-663)ttafs	p.L221fs		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	221					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTACGGATTACAGTTATTGA	0.391												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398												
HAUS6	54801	broad.mit.edu	37	9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-	rs34558496		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATGGATCACTTTTTTTAGC	0.373												
DDX58	23586	broad.mit.edu	37	9	32481357	32481357	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:32481356_32481356TA>T	uc003zra.3	-	10	1778	c.1620_1620TA>A	c.(1618-1620)ttafs	p.L540fs	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Frame_Shift_Del_p.L495fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.L337fs|DDX58_uc010mji.3_Frame_Shift_Del_p.L469fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	540					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GTGAAGTGTATAAAAACAGGG	0.428												
CA9	768	broad.mit.edu	37	9	35680775	35680777	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35680774_35680776GCCT>G	uc003zxo.4	+	9	1304_1306	c.1262_1264GCCT>G	c.(1261-1266)ggcctc>gGtc	p.L423del		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	423					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGTTTTTGGCCTCCTTTTTGC	0.557												
FAM75A3	727830	broad.mit.edu	37	9	40705699	40705700	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:40705698_40705699G>GA	uc010mmj.3	+	3	3384_3385	c.3355_3356G>GA	c.(3355-3357)gaafs	p.E1119fs		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	1119						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCCCAACTTAGAAAAACATGAA	0.480												
C9orf43	257169	broad.mit.edu	37	9	116191655	116191656	+	Frame_Shift_Ins	INS	-	-	G	rs41276815		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:116191654_116191655T>TG	uc004bhp.3	+	13	1820_1821	c.1374_1375T>TG	c.(1372-1377)tctgggfs	p.S458fs	C9orf43_uc004bho.4_Frame_Shift_Ins_p.S458fs	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	458										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						ACCAGTCCTCTGGGGCAGAGTG	0.525												
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527												
ERCC6	2074	broad.mit.edu	37	10	50678501	50678501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:50678500_50678500CA>C	uc001jhs.4	-	17	3660	c.3506_3506TG>G	c.(3505-3507)tggfs	p.W1169fs	ERCC6_uc009xod.3_Frame_Shift_Del_p.W329fs|ERCC6_uc010qgr.2_Frame_Shift_Del_p.W539fs|ERCC6_uc001jhr.4_Frame_Shift_Del_p.W537fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1169					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTATTCTCCCAAAAAGCTTC	0.378								Direct reversal of damage;Nucleotide excision repair (NER)				
TTC18	118491	broad.mit.edu	37	10	75113422	75113422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75113421_75113421AT>A	uc009xrc.3	-	2	264	c.143_143AT>T	c.(142-144)attfs	p.I48fs	TTC18_uc001jty.3_Frame_Shift_Del_p.I48fs|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	48							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGAAACAGTAATTTTTGCAGA	0.408												
IDE	3416	broad.mit.edu	37	10	94297296	94297296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:94297295_94297295CT>C	uc001kia.3	-	1	187	c.111_111AG>G	c.(109-111)aagfs	p.K37fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	37					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCTGTAAGTCTTTTTTTGGA	0.343												
NFKB2	4791	broad.mit.edu	37	10	104158163	104158163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104158162_104158162AC>A	uc001kvb.3	+	10	1138	c.873_873AC>A	c.(871-873)acafs	p.T291fs	NFKB2_uc001kva.3_Frame_Shift_Del_p.T291fs|NFKB2_uc010qqk.1_Frame_Shift_Del_p.T291fs|NFKB2_uc001kvd.3_Frame_Shift_Del_p.T291fs|NFKB2_uc009xxc.3_Frame_Shift_Del_p.T291fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	291	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGTTCCGGACACCCCCCTATC	0.572			T	IGH@	B-NHL							
SORCS3	22986	broad.mit.edu	37	10	106865213	106865213	+	Frame_Shift_Del	DEL	T	T	-	rs138506167		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:106865212_106865212CT>C	uc001kyi.1	+	6	1378	c.1151_1151CT>C	c.(1150-1152)cctfs	p.P384fs		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	384						integral to membrane	neuropeptide receptor activity	p.P384L(2)|p.G383W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTGGGCCTTTTGCCCGC	0.473												
KCNK18	338567	broad.mit.edu	37	10	118969177	118969177	+	Frame_Shift_Del	DEL	C	C	-	rs139101102		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118969176_118969176GC>G	uc010qsr.2	+	2	521	c.521_521GC>G	c.(520-522)cgcfs	p.R174fs		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	174						integral to membrane|plasma membrane		p.R174H(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTTTACCCGCCCCCTCCTC	0.507												
CHST15	51363	broad.mit.edu	37	10	125805498	125805499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:125805497_125805498T>TC	uc001lhn.3	-	1	965_966	c.231_232A>GA	c.(229-234)gggaagfs	p.G77fs	CHST15_uc001lhm.3_Frame_Shift_Ins_p.G77fs|CHST15_uc010que.2_Frame_Shift_Ins_p.G77fs|CHST15_uc001lho.3_Frame_Shift_Ins_p.G77fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	77					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTACATCGCTTCCCCTTTTTGA	0.465												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs143767864	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587												
PLEKHA7	144100	broad.mit.edu	37	11	16816067	16816067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:16816066_16816066AG>A	uc010rcu.1	-	18	2729	c.2714_2714CT>T	c.(2713-2715)cttfs	p.L905fs	PLEKHA7_uc001mmo.3_Frame_Shift_Del_p.L905fs|PLEKHA7_uc001mmm.3_5'Flank|PLEKHA7_uc010rcv.2_Frame_Shift_Del_p.L479fs|PLEKHA7_uc001mmn.3_Frame_Shift_Del_p.L613fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	905	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGTGACTGAAGGGGGGATGT	0.547												
PIK3C2A	5286	broad.mit.edu	37	11	17190949	17190949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17190948_17190948GT>G	uc001mmq.4	-	0	406	c.341_341AC>C	c.(340-342)acafs	p.T114fs	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Frame_Shift_Del_p.T114fs|PIK3C2A_uc009ygv.1_Frame_Shift_Del_p.T114fs	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	114	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAATACAGGTGTTTTTTTAGT	0.408												
SPTY2D1	144108	broad.mit.edu	37	11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:18636366_18636366CG>C	uc001moy.3	-	2	1671	c.1455_1455CG>G	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.P485fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	485	Ser-rich.							p.P485P(2)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CAGACCGCCCCGGGGGGCCCA	0.602												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
OR4C3	256144	broad.mit.edu	37	11	48346882	48346882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:48346881_48346881AT>A	uc010rhv.2	+	0	389	c.389_389AT>A	c.(388-390)catfs	p.H130fs		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGA	0.458												
SLC22A6	9356	broad.mit.edu	37	11	62752081	62752081	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:62752080_62752080AG>A	uc001nwk.3	-	0	416	c.83_83CT>T	c.(82-84)ctgfs	p.L28fs	SLC22A6_uc001nwl.3_Frame_Shift_Del_p.L28fs|SLC22A6_uc001nwj.3_Frame_Shift_Del_p.L28fs|SLC22A6_uc001nwm.3_Frame_Shift_Del_p.L28fs	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	28					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CATCAGGAGCAGGGGGAGGAC	0.642												
RCOR2	283248	broad.mit.edu	37	11	63680346	63680346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:63680345_63680345CG>C	uc001nyc.3	-	8	1354	c.966_966CG>G	c.(964-966)ccgfs	p.P322fs		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCATACCTCCGGGGGGCGTA	0.572												
NUMA1	4926	broad.mit.edu	37	11	71716313	71716314	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:71716312_71716313T>TG	uc001orl.1	-	22	5967_5968	c.5795_5796A>CA	c.(5794-5796)ccafs	p.P1932fs	NUMA1_uc001orj.2_Frame_Shift_Ins_p.P114fs|NUMA1_uc009ysw.1_Frame_Shift_Ins_p.P1499fs|NUMA1_uc001ork.1_Frame_Shift_Ins_p.P796fs|NUMA1_uc001orm.1_Frame_Shift_Ins_p.P1918fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1932					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTTCAGATGTGGGGGGCACAC	0.609			T	RARA	APL							
CEP164	22897	broad.mit.edu	37	11	117280511	117280511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:117280510_117280510AC>A	uc001prc.3	+	29	4072	c.3925_3925AC>A	c.(3925-3927)accfs	p.T1309fs	CEP164_uc001prb.3_Frame_Shift_Del_p.T1304fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.T734fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1309					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCCTAAGAGCACCCCCACCCC	0.662												
BCL9L	283149	broad.mit.edu	37	11	118779296	118779296	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118779295_118779295AG>A	uc001pug.3	-	1	1061	c.96_96CT>T	c.(94-96)cctfs	p.P32fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P27fs|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	32					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCTGGGGCAGGGGGGCAAT	0.587												
ATF7IP	55729	broad.mit.edu	37	12	14650648	14650649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:14650647_14650648G>GC	uc001rbw.3	+	14	3611_3612	c.3453_3454G>GC	c.(3451-3456)ctgcccfs	p.L1151fs	ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.L1150fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.L1151fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.L1151fs	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1151					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACAGCGTCTGCCCCCAGAAGC	0.530												
ALG10	84920	broad.mit.edu	37	12	34179326	34179326	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:34179325_34179325CT>C	uc001rlm.3	+	2	1216	c.897_897CT>C	c.(895-897)ctcfs	p.L299fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	299					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.L299F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTACTCTCTTTTTTTCCT	0.348												
LRRIQ1	84125	broad.mit.edu	37	12	85638604	85638604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:85638603_85638603CT>C	uc001tac.3	+	26	5164	c.5053_5053CT>C	c.(5053-5055)cttfs	p.L1685fs		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1685										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGATTTAGACCTTTTTTCCAT	0.403												
ALDH2	217	broad.mit.edu	37	12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma							
PSPC1	55269	broad.mit.edu	37	13	20277357	20277358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20277356_20277357C>CT	uc021rgx.1	-	9	1667_1668	c.1530_1531G>AG	c.(1528-1533)caagggfs	p.Q510fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	510	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AAGTTGCCCCCTTGACTTCCTC	0.455												
MTUS2	23281	broad.mit.edu	37	13	29599621	29599622	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:29599620_29599621T>TG	uc001usl.4	+	0	873_874	c.815_816T>TG	c.(814-816)gtgfs	p.V272fs		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	262						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACCCAAACAGTGGGGGCACATG	0.515												
ZC3H13	23091	broad.mit.edu	37	13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCA	0.373												
KLHL1	57626	broad.mit.edu	37	13	70681728	70681728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:70681727_70681727TC>T	uc001vip.3	-	0	899	c.105_105GA>A	c.(103-105)ggafs	p.G35fs	KLHL1_uc010thm.2_Frame_Shift_Del_p.G35fs|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	35					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAGGCAGCCTCCCCCCGCCG	0.617												
UGGT2	55757	broad.mit.edu	37	13	96589179	96589179	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:96589178_96589178CA>C	uc001vmt.3	-	17	2147	c.1977_splice	c.e17+1	p.L659_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	659					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTACCTACCAAAAAAACTT	0.239												
TPP2	7174	broad.mit.edu	37	13	103317270	103317270	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:103317269_103317269TA>T	uc001vpi.4	+	25	3429	c.3326_3326TA>T	c.(3325-3327)atafs	p.I1109fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1109					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGCTACTATAAAAAAGTAC	0.343												
LIG4	3981	broad.mit.edu	37	13	108863111	108863112	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:108863110_108863111C>CT	uc001vqn.3	-	1	779_780	c.506_507G>AG	c.(505-507)aagfs	p.K169fs	LIG4_uc001vqo.3_Frame_Shift_Ins_p.K169fs|LIG4_uc010agf.3_Frame_Shift_Ins_p.K169fs|LIG4_uc001vqp.3_Frame_Shift_Ins_p.K169fs|LIG4_uc010agg.1_Frame_Shift_Ins_p.K102fs|LIG4_uc021rmk.1_Frame_Shift_Ins_p.K169fs	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	169					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GAAGAAGGCTCTTTTTTATTAG	0.351								Non-homologous end-joining				
PARP2	10038	broad.mit.edu	37	14	20824817	20824818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:20824816_20824817G>GC	uc001vxc.3	+	12	1364_1365	c.1336_1337G>GC	c.(1336-1338)gccfs	p.A446fs	PARP2_uc001vxb.1_Frame_Shift_Ins_p.A446fs|PARP2_uc001vxd.3_Frame_Shift_Ins_p.A433fs|PARP2_uc010tle.2_Frame_Shift_Ins_p.A196fs	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	446	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTTCGAATTGCCCCACCTGAA	0.460								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA				
TGM1	7051	broad.mit.edu	37	14	24729847	24729848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24729846_24729847G>GC	uc001wod.3	-	3	690_691	c.566_567C>GC	c.(565-567)ggcfs	p.G189fs	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	189					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCCTCCACTGCCCCCCTTGCC	0.589												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
RAB15	376267	broad.mit.edu	37	14	65417872	65417873	+	Splice_Site	DEL	GA	GA	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:65417871_65417872TGA>T	uc021rut.1	-	4	328	c.247_splice	c.e4-1	p.G83_splice	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Splice_Site_p.G83_splice|RAB15_uc021rur.1_Splice_Site|RAB15_uc021rus.1_Splice_Site			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		AAATATCCCCTGAGAGAGAGAG	0.510												
C14orf102	55051	broad.mit.edu	37	14	90783061	90783061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:90783060_90783060CT>C	uc001xyi.2	-	2	502	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	90	Lys-rich.|Poly-Lys.						protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ctgatgcttcctttttttctt	0.398												
GABRB3	2562	broad.mit.edu	37	15	26828515	26828515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:26828514_26828514AG>A	uc001zbb.3	-	5	780	c.677_677CT>T	c.(676-678)ctgfs	p.L226fs	GABRB3_uc021sgg.1_Frame_Shift_Del_p.L99fs|GABRB3_uc021sgh.1_Frame_Shift_Del_p.L85fs|GABRB3_uc001zaz.3_Frame_Shift_Del_p.L170fs|GABRB3_uc001zba.3_Frame_Shift_Del_p.L170fs	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	170					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGCTCGTCCAGGGGGTATCT	0.428												
SEMA6D	80031	broad.mit.edu	37	15	48054512	48054512	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:48054511_48054511TA>T	uc010bek.3	+	7	1013	c.653_653TA>T	c.(652-654)atafs	p.I218fs	SEMA6D_uc001zvw.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvx.1_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvy.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvz.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwa.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwb.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwc.3_Frame_Shift_Del_p.I218fs	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	218	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCAAATGGATAAAAGGTACC	0.512												
FBN1	2200	broad.mit.edu	37	15	48797224	48797225	+	Splice_Site	INS	-	-	AC			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:48797223_48797224A>AAC	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCTTACCAACACACACACG	0.490												
WDR72	256764	broad.mit.edu	37	15	54025295	54025295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:54025294_54025294TG>T	uc002acj.2	-	1	95	c.53_53CA>A	c.(52-54)cacfs	p.H18fs	WDR72_uc010bfi.1_Frame_Shift_Del_p.H18fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	18										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGTGATGCTGTGGGGAGGGGC	0.512												
VPS13C	54832	broad.mit.edu	37	15	62261614	62261616	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:62261613_62261615ATCT>A	uc002agz.3	-	27	2885_2887	c.2794_2796AGAT>T	c.(2794-2796)gat>T	p.D932del	VPS13C_uc002aha.3_In_Frame_Del_p.D889del|VPS13C_uc002ahb.2_In_Frame_Del_p.D932del|VPS13C_uc002ahc.2_In_Frame_Del_p.D889del	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	932					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAGAATTGTATCTTCTTCTTTC	0.291												
NEIL1	79661	broad.mit.edu	37	15	75641567	75641567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:75641566_75641566GC>G	uc002bae.3	+	1	731	c.578_578GC>G	c.(577-579)ggcfs	p.G193fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.G107fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	107					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCCCCGCCTGGCCCCCGGCTC	0.697								Base excision repair (BER), DNA glycosylases				
AKAP13	11214	broad.mit.edu	37	15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547												
TMEM8A	58986	broad.mit.edu	37	16	426285	426286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:426284_426285T>TC	uc002cgu.4	-	5	1204_1205	c.1075_1076A>GA	c.(1075-1077)gagfs	p.E359fs	TMEM8A_uc002cgv.4_Frame_Shift_Ins_p.E166fs	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	359					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GTCCATGTCCTCCCGCGTGACT	0.668												
SRRM2	23524	broad.mit.edu	37	16	2813626	2813627	+	Frame_Shift_Del	DEL	CT	CT	-	rs144062030	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2813625_2813626CCT>C	uc002crk.3	+	10	3645_3646	c.3096_3097CCT>C	c.(3094-3099)tccctcfs	p.S1032fs	SRRM2_uc002crj.1_Frame_Shift_Del_p.S936fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.S1032fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.S936fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCCTGGATCCCTCTCTCTCTG	0.480												
NTAN1	123803	broad.mit.edu	37	16	15131931	15131932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:15131930_15131931A>AT	uc002ddd.3	-	9	895_896	c.890_891T>AT	c.(889-891)aatfs	p.N297fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Ins_p.N192fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	297						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						AGCCATCTTCATTTTTTTTGTA	0.386												
SETD1A	9739	broad.mit.edu	37	16	30982809	30982810	+	In_Frame_Ins	INS	-	-	TCC	rs141132338	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30982808_30982809A>ATCC	uc002ead.1	+	12	3812_3813	c.3126_3127A>ATCC	c.(3124-3129)tcatcc>tcATCCcc	p.1042_1043SS>SS		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1042	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCAGctcctcatcctcctcctc	0.545												
ZNF646	9726	broad.mit.edu	37	16	31089231	31089231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:31089230_31089230GC>G	uc002eap.3	+	1	1874	c.1585_1585GC>G	c.(1585-1587)gccfs	p.A529fs	ZNF646_uc021tgu.1_Frame_Shift_Del_p.A529fs	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCTGAGGGTGCCCCCAGCCA	0.617												
KCNG4	93107	broad.mit.edu	37	16	84270892	84270893	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84270891_84270892G>GC	uc010voc.2	-	1	321_322	c.200_201C>GC	c.(199-201)ggcfs	p.G67fs	KCNG4_uc002fhu.1_Frame_Shift_Ins_p.G67fs	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	67						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GATACCTCCTGCCCCCCACGTT	0.629												
DNAH9	1770	broad.mit.edu	37	17	11775064	11775064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:11775063_11775063TC>T	uc002gne.3	+	51	10270	c.10202_10202TC>T	c.(10201-10203)ctcfs	p.L3401fs	DNAH9_uc010coo.3_Frame_Shift_Del_p.L2695fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3401					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGGCAGAGCCTCCTGGACAGA	0.483												
ATAD5	79915	broad.mit.edu	37	17	29185289	29185289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:29185288_29185288TA>T	uc002hfs.1	+	8	3246	c.2903_2903TA>T	c.(2902-2904)ctafs	p.L968fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.L865fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	968					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCCTTACTCCTAAAAAAACAA	0.308												
COIL	8161	broad.mit.edu	37	17	55028118	55028119	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:55028117_55028118G>GT	uc002iuu.3	-	1	516_517	c.485_486C>AC	c.(484-486)aacfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
BAHCC1	57597	broad.mit.edu	37	17	79411726	79411726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:79411725_79411725GC>G	uc002kaf.2	+	6	2358	c.2358_2358GC>G	c.(2356-2358)ctgfs	p.L786fs	BAHCC1_uc002kae.2_Frame_Shift_Del_p.L47fs	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	848							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCAGAACCTGCCCCCCGGCT	0.706												
CEP76	79959	broad.mit.edu	37	18	12678444	12678444	+	Splice_Site	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:12678443_12678443TA>T	uc002kri.3	-	10	1446	c.1290_splice	c.e10-1	p.R430_splice	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Splice_Site_p.R252_splice|CEP76_uc010wzz.2_Splice_Site_p.R355_splice	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	430					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGATGTACCtaaaaaaatta	0.333												
ZBTB7C	201501	broad.mit.edu	37	18	45566519	45566520	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:45566518_45566519G>GC	uc010dnv.3	-	2	1462_1463	c.1026_1027C>GC	c.(1024-1029)gggcctfs	p.G342fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.G369fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.G328fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.G329fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	320						intracellular	nucleic acid binding|zinc ion binding	p.L343L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624												
ZBTB7C	201501	broad.mit.edu	37	18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:45567075_45567075TC>T	uc010dnv.3	-	2	906	c.470_470GA>A	c.(469-471)gagfs	p.E157fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtc	0.577												
DSEL	92126	broad.mit.edu	37	18	65179869	65179870	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:65179868_65179869G>GT	uc002lke.1	-	1	3231_3232	c.2007_2008C>AC	c.(2005-2010)aaacgafs	p.K669fs	DSEL_uc021ulg.1_Frame_Shift_Ins_p.K669fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	659						integral to membrane	isomerase activity|sulfotransferase activity	p.R670Q(1)|p.R670L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAGTCCATCGTTTTTTAAATT	0.391												
MUC16	94025	broad.mit.edu	37	19	9071463	9071463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:9071462_9071462AG>A	uc002mkp.3	-	2	16188	c.15984_15984CT>T	c.(15982-15984)cctfs	p.P5328fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5330	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCTTCCACAGGGGGAGTTG	0.537												
MAN2B1	4125	broad.mit.edu	37	19	12759984	12759984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12759983_12759983GC>G	uc002mub.2	-	19	2479	c.2403_2403GC>C	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Del_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGGCTGCTGCCCCCCTGGG	0.622												
CEACAM4	1089	broad.mit.edu	37	19	42133320	42133321	+	Frame_Shift_Ins	INS	-	-	G	rs144781407	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42133319_42133320A>AG	uc010xwd.1	-	0	123_124	c.12_13T>CT	c.(10-15)ccctcafs	p.P4fs	CEACAM4_uc002orh.1_Frame_Shift_Ins_p.P4fs	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	4						integral to plasma membrane|membrane fraction		p.S5fs*15(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGAGCGGCTGAGGGGGGGCCCA	0.658												
ZIM3	114026	broad.mit.edu	37	19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57646386_57646386GT>G	uc002qnz.1	-	4	1705	c.1319_1319AC>C	c.(1318-1320)accfs	p.T440fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGTATGGGTTTTTTTATG	0.408												
ZNF341	84905	broad.mit.edu	37	20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:32336862_32336862GC>G	uc002wzy.3	+	3	493	c.473_473GC>G	c.(472-474)ggcfs	p.G158fs	ZNF341_uc002wzx.3_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.3_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	158	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATGCCCCAGGGCCCCCCACCT	0.537												
SPAG4	6676	broad.mit.edu	37	20	34207646	34207646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:34207645_34207645GC>G	uc002xdb.1	+	9	1171	c.1054_1054GC>G	c.(1054-1056)gccfs	p.A352fs	SPAG4_uc010zvi.1_Frame_Shift_Del_p.A275fs	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	352	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGA	0.627												
C20orf132	140699	broad.mit.edu	37	20	35742484	35742485	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:35742483_35742484G>GT	uc010zvu.2	-	20	2691_2692	c.2600_2601C>AC	c.(2599-2601)aacfs	p.N867fs	C20orf132_uc002xgk.3_Frame_Shift_Ins_p.N499fs	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TCTTATCTGGGTTTTTTACAGA	0.460												
PIGT	51604	broad.mit.edu	37	20	44045332	44045335	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:44045331_44045334CTGAG>C	uc002xoh.2	+	1	452_455	c.362_365CTGAG>C	c.(361-366)actgatfs	p.T121fs	PIGT_uc010ghb.2_Intron|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Intron|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.T121fs|PIGT_uc010ghf.2_Intron|PIGT_uc010zwz.2_Intron|PIGT_uc010zww.2_Intron|PIGT_uc010zwy.2_Intron|PIGT_uc002xoj.2_Frame_Shift_Del_p.T121fs|PIGT_uc010zwu.2_Intron|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Intron|PIGT_uc010zwx.2_5'UTR|PIGT_uc010zxa.2_5'UTR|PIGT_uc002xol.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	121					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GACACTGTCACTGAGTGAGTGCAC	0.583												
PIGT	51604	broad.mit.edu	37	20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572												
ADNP	23394	broad.mit.edu	37	20	49510943	49510944	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49510942_49510943A>AT	uc002xvt.1	-	4	653_654	c.308_309T>AT	c.(307-309)aatfs	p.N103fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.N103fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E102Q(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGAGAATCCTATTTTCAAAGTC	0.416												
ZNF217	7764	broad.mit.edu	37	20	52188288	52188288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:52188287_52188287GT>G	uc002xwq.4	-	3	3485	c.3143_3143AC>C	c.(3142-3144)actfs	p.T1048fs		NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	1048					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTGAATCAAGTTTTTTTGTC	0.418												
CDH4	1002	broad.mit.edu	37	20	60511828	60511828	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60511827_60511827AC>A	uc002ybn.2	+	15	2665	c.2577_2577AC>A	c.(2575-2577)gcafs	p.A859fs	CDH4_uc002ybr.2_Frame_Shift_Del_p.A822fs|CDH4_uc002ybp.2_Frame_Shift_Del_p.A785fs	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	859					adherens junction organization|cell junction assembly		calcium ion binding	p.T858K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCCCACGGCACCCCCCTATG	0.642												
RTEL1	51750	broad.mit.edu	37	20	62321727	62321729	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62321726_62321728CCTT>C	uc021wge.1	+	24	2515_2517	c.2345_2347CCTT>C	c.(2344-2349)cccttc>cCtc	p.F784del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.F784del|RTEL1_uc011abd.2_In_Frame_Del_p.F808del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_In_Frame_Del_p.F561del|RTEL1_uc002yfx.1_In_Frame_Del_p.F29del	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	784					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCGCCTGGCCCCTTCTTCTCCAC	0.665												
CXorf59	286464	broad.mit.edu	37	X	36117910	36117910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:36117909_36117909GA>G	uc004ddk.1	+	6	951	c.765_765GA>G	c.(763-765)aagfs	p.K255fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	255						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						GTACACCTAAGAAAAAATGTT	0.313												
USP11	8237	broad.mit.edu	37	X	47104301	47104302	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:47104300_47104301C>CA	uc004dhp.3	+	14	2192_2193	c.2192_2193C>CA	c.(2191-2193)acafs	p.T731fs	USP11_uc004dhq.3_Frame_Shift_Ins_p.T457fs	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	731					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGCGACCGCACAACCTCCCCTG	0.589