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	900527	900527	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:900527C>T	uc001aca.1	+	12	1992	c.1885C>T	c.(1885-1887)CCG>TCG	p.P629S	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	629	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)		CAATTTCCCGCCGCCATCCTC	0.652												
UBE2J2	118424	broad.mit.edu	37	1	1192407	1192407	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1192407G>T	uc001adn.2	-	5	689	c.379C>A	c.(379-381)CCC>ACC	p.P127T	UBE2J2_uc001adm.2_Missense_Mutation_p.P92T|UBE2J2_uc001ado.2_Missense_Mutation_p.P143T|UBE2J2_uc001adp.2_Missense_Mutation_p.P127T|UBE2J2_uc001adq.2_Missense_Mutation_p.P75T|UBE2J2_uc001adr.2_Missense_Mutation_p.P75T|UBE2J2_uc001ads.2_Missense_Mutation_p.P75T	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	127	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				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;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)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCCAGGGTGGGGCCCTTCTCC	0.592												
TAS1R3	83756	broad.mit.edu	37	1	1266841	1266841	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1266841G>A	uc010nyk.1	+	1	116	c.116G>A	c.(115-117)GGG>GAG	p.G39E		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	39	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTGCTGGGGGGGCTGTTCCCC	0.697												
ATAD3C	219293	broad.mit.edu	37	1	1403815	1403815	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:1403815G>A	uc001aft.2	+	12	2136	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	381							ATP binding|nucleoside-triphosphatase activity				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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATGATGGACGCCTGCGTGCA	0.657												
PLCH2	9651	broad.mit.edu	37	1	2411682	2411682	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:2411682C>T	uc001aji.1	+	4	850	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PLCH2_uc010nyz.1_5'UTR|PLCH2_uc009vle.1_5'UTR|PLCH2_uc001ajj.1_5'UTR|PLCH2_uc001ajk.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	192	Potential.|EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGAGCATTGGCGAGGTCCTGC	0.627												
PRDM16	63976	broad.mit.edu	37	1	3322195	3322195	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:3322195C>T	uc001akf.2	+	8	1249	c.1169C>T	c.(1168-1170)ACG>ATG	p.T390M	PRDM16_uc001akc.2_Missense_Mutation_p.T390M|PRDM16_uc001akd.2_Missense_Mutation_p.T390M|PRDM16_uc001ake.2_Missense_Mutation_p.T390M|PRDM16_uc009vlh.2_Missense_Mutation_p.T91M	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	390					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)		ATCCACAGCACGGTGAAGCCT	0.701			T	EVI1	MDS|AML							
MEGF6	1953	broad.mit.edu	37	1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	rs115175505	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:3428675C>T	uc001akl.2	-	8	1098	c.871G>A	c.(871-873)GCA>ACA	p.A291T	MEGF6_uc001akk.2_Missense_Mutation_p.A186T	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	291	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)		GCCAGCCCTGCGGCACATTCG	0.652												
GPR153	387509	broad.mit.edu	37	1	6313841	6313841	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:6313841C>T	uc001amp.1	-	3	983	c.723G>A	c.(721-723)CAG>CAA	p.Q241Q		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	241	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGCCCGTGGTCTGCAGAGAGG	0.662												
NOL9	79707	broad.mit.edu	37	1	6592755	6592755	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:6592755G>A	uc001ans.2	-	8	1322	c.1303C>T	c.(1303-1305)CGC>TGC	p.R435C	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	435					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGAGCGGAACTGAACC	0.493												
RERE	473	broad.mit.edu	37	1	8418690	8418690	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:8418690C>T	uc001ape.2	-	21	4715	c.3905G>A	c.(3904-3906)CGG>CAG	p.R1302Q	RERE_uc001apf.2_Missense_Mutation_p.R1302Q|RERE_uc001apd.2_Missense_Mutation_p.R748Q	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1302	Arg/Glu-rich (mixed charge).				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)		CCGGAGCTCCCGCTCGCGGAT	0.667												
UBIAD1	29914	broad.mit.edu	37	1	11345830	11345830	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11345830C>A	uc001asg.2	+	2	993	c.659C>A	c.(658-660)CCC>CAC	p.P220H		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	220	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TATGCCATCCCCCTCGCCCTC	0.612												
MTHFR	4524	broad.mit.edu	37	1	11850909	11850909	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11850909T>G	uc001atc.1	-	12	1983	c.1799A>C	c.(1798-1800)GAG>GCG	p.E600A	MTHFR_uc001atb.1_Missense_Mutation_p.E623A	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	600					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGACTCCTCCTCATACAGCTT	0.443												
VPS13D	55187	broad.mit.edu	37	1	12337952	12337952	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:12337952G>A	uc001atv.2	+	19	4448	c.4307G>A	c.(4306-4308)TGC>TAC	p.C1436Y	VPS13D_uc001atw.2_Missense_Mutation_p.C1436Y|VPS13D_uc001atx.2_Missense_Mutation_p.C624Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1436					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTTGAATTGCACCCAGTTG	0.493												
HMGCL	3155	broad.mit.edu	37	1	24140703	24140703	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:24140703C>T	uc001bib.2	-	5	518	c.474G>A	c.(472-474)CAG>CAA	p.Q158Q	HMGCL_uc010oec.1_Intron|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.Q133Q|HMGCL_uc009vqs.1_Intron|HMGCL_uc001bid.1_Silent_p.Q158Q	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	158					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TATTGGCTGACTGCGCTGCCT	0.498												
LDLRAP1	26119	broad.mit.edu	37	1	25893405	25893405	+	Silent	SNP	C	C	T	rs147242385		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:25893405C>T	uc001bkl.3	+	9	963	c.849C>T	c.(847-849)TAC>TAT	p.Y283Y	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Silent_p.Y113Y	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	283					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGCATTACGCCCAGTGCC	0.642												
ARID1A	8289	broad.mit.edu	37	1	27087486	27087486	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27087486C>A	uc001bmv.1	+	5	2433	c.2060C>A	c.(2059-2061)CCT>CAT	p.P687H	ARID1A_uc001bmt.1_Missense_Mutation_p.P687H|ARID1A_uc001bmu.1_Missense_Mutation_p.P687H|ARID1A_uc001bmw.1_Missense_Mutation_p.P304H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	687					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATACCTCCCCTCACCTGCCT	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
MAP3K6	9064	broad.mit.edu	37	1	27691347	27691347	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27691347G>T	uc001bny.1	-	2	646	c.397C>A	c.(397-399)CTT>ATT	p.L133I	MAP3K6_uc009vsw.1_Missense_Mutation_p.L133I|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	133					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)		CGCACACCAAGGTGGTAGAAC	0.637												
GPR3	2827	broad.mit.edu	37	1	27721183	27721183	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:27721183C>A	uc001bod.2	+	2	976	c.881C>A	c.(880-882)CCT>CAT	p.P294H		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	294	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCAACCCTATCATCTAC	0.562												
TMEM39B	55116	broad.mit.edu	37	1	32566155	32566155	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:32566155C>T	uc010ogv.1	+	8	1374	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.R283C|TMEM39B_uc001bue.3_Missense_Mutation_p.R411C|TMEM39B_uc001buf.3_Missense_Mutation_p.R211C|TMEM39B_uc010ogw.1_Missense_Mutation_p.R211C	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	410						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCCCACTTCCGCTTCCATGT	0.582												
ZMYM4	9202	broad.mit.edu	37	1	35847348	35847348	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:35847348G>A	uc001byt.2	+	9	1638	c.1558G>A	c.(1558-1560)GCA>ACA	p.A520T	ZMYM4_uc009vuu.2_Missense_Mutation_p.A488T|ZMYM4_uc001byu.2_Missense_Mutation_p.A196T|ZMYM4_uc009vuv.2_Missense_Mutation_p.A259T	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	520	MYM-type 4.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATCACGGCATACAAGCA	0.388												
EIF2C3	192669	broad.mit.edu	37	1	36509104	36509104	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:36509104C>T	uc001bzp.2	+	17	2485	c.2229C>T	c.(2227-2229)CAC>CAT	p.H743H	EIF2C3_uc001bzq.2_Silent_p.H509H	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	743	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACATTACACACCCATATGAGT	0.363												
SNIP1	79753	broad.mit.edu	37	1	38006062	38006062	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38006062G>A	uc001cbi.2	-	3	695	c.622C>T	c.(622-624)CGG>TGG	p.R208W	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	208					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				CCACCAGGCCGAGGAACCAAC	0.532												
EPHA10	284656	broad.mit.edu	37	1	38227196	38227196	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38227196G>A	uc009vvi.2	-	3	817	c.731C>T	c.(730-732)TCG>TTG	p.S244L	EPHA10_uc001cbw.3_Missense_Mutation_p.S244L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	244	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCCTTCCGAGTGCGCCAC	0.731												
MTF1	4520	broad.mit.edu	37	1	38304332	38304332	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:38304332C>T	uc001cce.1	-	4	885	c.744G>A	c.(742-744)AAG>AAA	p.K248K	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	248	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCGAATGTGCTTCCTCAGAT	0.463												
MACF1	23499	broad.mit.edu	37	1	39800302	39800302	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:39800302T>C	uc010oiu.1	+	1	3493	c.3362T>C	c.(3361-3363)CTG>CCG	p.L1121P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2686	Plectin 11.				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)			GCATCTACGCTGAAGGTTCTA	0.428												
HIVEP3	59269	broad.mit.edu	37	1	42041284	42041284	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:42041284C>A	uc001cgz.3	-	5	6351	c.5138G>T	c.(5137-5139)GGG>GTG	p.G1713V	HIVEP3_uc001cha.3_Missense_Mutation_p.G1713V|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1713					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)				CTCCGGCTCCCCTCTCCTCTC	0.562												
RNF220	55182	broad.mit.edu	37	1	44878229	44878229	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:44878229C>T	uc001clv.1	+	2	820	c.460C>T	c.(460-462)CGC>TGC	p.R154C	RNF220_uc001clw.1_Missense_Mutation_p.R154C	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCCCCACTTGCGCTTCTCAGA	0.542												
MUTYH	4595	broad.mit.edu	37	1	45797950	45797950	+	Missense_Mutation	SNP	C	C	T	rs149866955	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:45797950C>T	uc001cnm.2	-	10	1028	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	MUTYH_uc009vxn.2_Missense_Mutation_p.R96Q|MUTYH_uc001cnf.2_Missense_Mutation_p.R246Q|MUTYH_uc009vxo.2_Missense_Mutation_p.R246Q|MUTYH_uc001cng.2_Missense_Mutation_p.R257Q|MUTYH_uc001cnj.2_Missense_Mutation_p.R154Q|MUTYH_uc001cni.2_Missense_Mutation_p.R246Q|MUTYH_uc001cnh.2_Missense_Mutation_p.R247Q|MUTYH_uc001cno.2_Missense_Mutation_p.R154Q|MUTYH_uc001cnk.2_Missense_Mutation_p.R131Q|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R260Q|MUTYH_uc009vxp.2_Missense_Mutation_p.R274Q|MUTYH_uc001cnn.2_Missense_Mutation_p.R261Q	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	271					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					ATCTCCTGGCCGGGCTGGGTC	0.612			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
TSPAN1	10103	broad.mit.edu	37	1	46650505	46650505	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:46650505T>C	uc001cpd.2	+	6	852	c.388T>C	c.(388-390)TAT>CAT	p.Y130H	TSPAN1_uc009vyd.1_Missense_Mutation_p.Y130H	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	130	Extracellular (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				CAAGAAAGATTATGGTTCCCA	0.542												
KIAA0494	9813	broad.mit.edu	37	1	47154079	47154079	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:47154079G>A	uc001cqk.3	-	7	1910	c.933C>T	c.(931-933)AGC>AGT	p.S311S	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Silent_p.S311S	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	311							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAACCACATCGCTTTCTATCA	0.443												
NRD1	4898	broad.mit.edu	37	1	52344138	52344138	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:52344138C>T	uc001ctc.3	-	1	472	c.150G>A	c.(148-150)ATG>ATA	p.M50I	NRD1_uc001ctd.3_Missense_Mutation_p.M50I|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Missense_Mutation_p.M50I|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	50					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TCCTTCCAGGCATGGCCAGAA	0.642												
DHCR24	1718	broad.mit.edu	37	1	55319114	55319114	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:55319114C>T	uc001cyc.1	-	8	1519	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	DHCR24_uc010ooi.1_Missense_Mutation_p.V107M|DHCR24_uc010ooj.1_Missense_Mutation_p.V278M|DHCR24_uc010ook.1_Missense_Mutation_p.V423M	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	464					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						CACCCATGCACGCTGCGGACA	0.567												
USP24	23358	broad.mit.edu	37	1	55591012	55591012	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:55591012G>A	uc001cyg.3	-	31	3461	c.3461C>T	c.(3460-3462)GCT>GTT	p.A1154V		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1314					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						AACTCGAGCAGCAGGGATGAT	0.388												
C8A	731	broad.mit.edu	37	1	57340626	57340626	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:57340626G>A	uc001cyo.2	+	3	308	c.176G>A	c.(175-177)CGA>CAA	p.R59Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	59	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R59Q(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						GTTTAGTACCGACACCGGAGC	0.413												
ANKRD13C	81573	broad.mit.edu	37	1	70819761	70819761	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:70819761G>A	uc001dex.3	-	1	657	c.331C>T	c.(331-333)CCC>TCC	p.P111S	ANKRD13C_uc009wbk.2_Missense_Mutation_p.P111S|ANKRD13C_uc001dey.3_Missense_Mutation_p.P111S|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	111	ANK 1.				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						TAGTGTGCGGGGCAACTGCCT	0.617												
TNNI3K	51086	broad.mit.edu	37	1	74834788	74834788	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:74834788T>C	uc001dgf.1	+	14	1455	c.1404T>C	c.(1402-1404)ATT>ATC	p.I468I	TNNI3K_uc001dgc.1_Silent_p.I569I|TNNI3K_uc001dgd.2_Silent_p.I569I|TNNI3K_uc001dge.1_Silent_p.I569I	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	468	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCATGAGATTATTGGCTCAG	0.328												
LHX8	431707	broad.mit.edu	37	1	75622741	75622741	+	Missense_Mutation	SNP	C	C	T	rs34889650	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:75622741C>T	uc001dgo.2	+	9	1638	c.974C>T	c.(973-975)GCG>GTG	p.A325V	LHX8_uc001dgq.2_Missense_Mutation_p.A264V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	325						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATGTTAACTGCGCTGCATAGT	0.453												
MSH4	4438	broad.mit.edu	37	1	76272810	76272810	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:76272810A>G	uc001dhd.1	+	3	613	c.572A>G	c.(571-573)AAC>AGC	p.N191S		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	191					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TTTGCAGACAACACAACATAT	0.373								MMR				
IFI44	10561	broad.mit.edu	37	1	79120723	79120723	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:79120723C>A	uc001dip.3	+	4	643	c.519C>A	c.(517-519)GCC>GCA	p.A173A	IFI44_uc010orr.1_Silent_p.A173A|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	173					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						TACTGTCTGCCTTGAGAACTT	0.413												
ELTD1	64123	broad.mit.edu	37	1	79412005	79412005	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:79412005G>A	uc001diq.3	-	3	435	c.279C>T	c.(277-279)AGC>AGT	p.S93S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	93	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTGGTTACTGCTGGATCTGA	0.363												
CLCA4	22802	broad.mit.edu	37	1	87045052	87045052	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:87045052A>G	uc009wcs.2	+	13	2182	c.2138A>G	c.(2137-2139)AAC>AGC	p.N713S	CLCA4_uc009wct.2_Missense_Mutation_p.N476S|CLCA4_uc009wcu.2_Missense_Mutation_p.N533S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	713						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTGAAGCAAACCCGCCAAGA	0.423												
GBP2	2634	broad.mit.edu	37	1	89579814	89579814	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:89579814G>A	uc001dmz.1	-	7	1305	c.1034C>T	c.(1033-1035)ACG>ATG	p.T345M	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	345					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAGGGTTTCCGTGGGCAGCTG	0.542												
GBP5	115362	broad.mit.edu	37	1	89735131	89735131	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:89735131T>C	uc001dnc.2	-	3	645	c.108A>G	c.(106-108)CAA>CAG	p.Q36Q	GBP5_uc001dnd.2_Silent_p.Q36Q|GBP5_uc001dne.1_Silent_p.Q36Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	36						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAACTACAGGTTGCGTAATGG	0.493												
LRRC8B	23507	broad.mit.edu	37	1	90048552	90048552	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:90048552C>A	uc001dni.2	+	7	850	c.343C>A	c.(343-345)CAT>AAT	p.H115N	LRRC8B_uc001dnh.2_Missense_Mutation_p.H115N|LRRC8B_uc001dnj.2_Missense_Mutation_p.H115N	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	115						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAACAGCTCCATTGGTTTGC	0.512												
EVI5	7813	broad.mit.edu	37	1	93257933	93257933	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:93257933T>C	uc001dox.2	-	1	29	c.19A>G	c.(19-21)ACT>GCT	p.T7A	EVI5_uc010otf.1_Missense_Mutation_p.T7A	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	7	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGGCAGCAGTCATTTTGTTG	0.348												
ABCA4	24	broad.mit.edu	37	1	94512630	94512630	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:94512630C>T	uc001dqh.2	-	19	2867	c.2763G>A	c.(2761-2763)GAG>GAA	p.E921E	ABCA4_uc010otn.1_Silent_p.E847E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	921	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCCTGGATGCTCACGTTCAA	0.493												
AGL	178	broad.mit.edu	37	1	100350169	100350169	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:100350169G>A	uc001dsi.1	+	20	2991	c.2591G>A	c.(2590-2592)CGA>CAA	p.R864Q	AGL_uc001dsj.1_Missense_Mutation_p.R864Q|AGL_uc001dsk.1_Missense_Mutation_p.R864Q|AGL_uc001dsl.1_Missense_Mutation_p.R864Q|AGL_uc001dsm.1_Missense_Mutation_p.R848Q|AGL_uc001dsn.1_Missense_Mutation_p.R847Q	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	864	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)		GGAATTCTTCGAAATCATCTG	0.333												
SLC25A24	29957	broad.mit.edu	37	1	108697684	108697684	+	Missense_Mutation	SNP	C	C	T	rs143348106		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:108697684C>T	uc001dvn.3	-	6	957	c.743G>A	c.(742-744)CGC>CAC	p.R248H	SLC25A24_uc001dvm.2_Missense_Mutation_p.R229H	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	248	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAAAGCGAGCGGATACCTCC	0.393												
KIAA1324	57535	broad.mit.edu	37	1	109740119	109740119	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:109740119C>T	uc001dwq.2	+	17	2281	c.2145C>T	c.(2143-2145)ACC>ACT	p.T715T	KIAA1324_uc009wex.1_Silent_p.T665T|KIAA1324_uc009wey.2_Silent_p.T628T|KIAA1324_uc010ovg.1_Silent_p.T613T|KIAA1324_uc001dwr.2_Silent_p.T365T|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	715	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGTGTGCACCGACAATGTCA	0.537												
AHCYL1	10768	broad.mit.edu	37	1	110561069	110561069	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:110561069T>C	uc001dyx.2	+	12	1565	c.1198T>C	c.(1198-1200)TCC>CCC	p.S400P	AHCYL1_uc010ovw.1_Missense_Mutation_p.S353P|AHCYL1_uc001dyy.2_Missense_Mutation_p.S353P|AHCYL1_uc010ovx.1_Missense_Mutation_p.S353P	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	400	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TATGGGCCACTCCAACACAGA	0.403												
SLC16A4	9122	broad.mit.edu	37	1	110924274	110924274	+	Missense_Mutation	SNP	C	C	T	rs145736696		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:110924274C>T	uc001dzo.1	-	4	546	c.364G>A	c.(364-366)GGT>AGT	p.G122S	SLC16A4_uc009wfs.1_Intron|SLC16A4_uc001dzp.1_Missense_Mutation_p.G122S|SLC16A4_uc010ovy.1_Missense_Mutation_p.G60S|SLC16A4_uc001dzq.1_Missense_Mutation_p.G60S|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	122	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGGACTCACCGGGTAGAAGT	0.294												
KCNA3	3738	broad.mit.edu	37	1	111216142	111216142	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:111216142G>A	uc001dzv.1	-	1	1514	c.1290C>T	c.(1288-1290)AGC>AGT	p.S430S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	430						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)		CATCCGGGATGCTGCTGAAAC	0.542												
C1orf103	55791	broad.mit.edu	37	1	111495091	111495091	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:111495091C>A	uc001eaa.2	-	2	671	c.415G>T	c.(415-417)GGT>TGT	p.G139C	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		ATTTTCACACCATGACTCTGA	0.363												
ADORA3	140	broad.mit.edu	37	1	112042838	112042838	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:112042838A>C	uc001ebh.3	-	2	1458	c.691T>G	c.(691-693)TCC>GCC	p.S231A	ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 2	231	Cytoplasmic (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGAAACAAGGACTTAGCCGTC	0.413												
RSBN1	54665	broad.mit.edu	37	1	114320337	114320337	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:114320337A>G	uc001edq.2	-	3	1507	c.1471T>C	c.(1471-1473)TTC>CTC	p.F491L	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	491						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)		AACTCTGGGAAATAATCACCA	0.393												
IGSF3	3321	broad.mit.edu	37	1	117142762	117142762	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117142762G>T	uc001egr.1	-	7	2535	c.1830C>A	c.(1828-1830)TCC>TCA	p.S610S	IGSF3_uc001egq.1_Silent_p.S630S|IGSF3_uc001egs.1_Silent_p.S283S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	610	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAAGCTGGAGGACCTGTCCC	0.632												
PTGFRN	5738	broad.mit.edu	37	1	117492122	117492122	+	Missense_Mutation	SNP	G	G	A	rs150341125	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117492122G>A	uc001egv.1	+	4	1278	c.1141G>A	c.(1141-1143)GGA>AGA	p.G381R		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	381	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGGCACCCGGACACAACAG	0.532												
TTF2	8458	broad.mit.edu	37	1	117626723	117626723	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:117626723C>T	uc001egy.2	+	11	2007	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	663	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGTGGAGAAACGGGTGAACAG	0.473												
ANKRD35	148741	broad.mit.edu	37	1	145558843	145558843	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:145558843T>C	uc001eob.1	+	7	570	c.462T>C	c.(460-462)CGT>CGC	p.R154R	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	154	ANK 4.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGATGGACGTACACCCCTGA	0.562												
CHD1L	9557	broad.mit.edu	37	1	146747814	146747814	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:146747814A>T	uc001epm.3	+	14	1495	c.1432A>T	c.(1432-1434)ATA>TTA	p.I478L	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.I365L|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.I384L|CHD1L_uc010ozp.1_Missense_Mutation_p.I197L|CHD1L_uc001epo.3_Missense_Mutation_p.I274L|CHD1L_uc010ozq.1_Missense_Mutation_p.I51L|CHD1L_uc009wji.2_Missense_Mutation_p.I197L	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	478	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TGTGGAAGAAATAGTCTATAG	0.483												
SF3B4	10262	broad.mit.edu	37	1	149899128	149899128	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:149899128T>A	uc001etj.1	-	2	144	c.93A>T	c.(91-93)GAA>GAT	p.E31D	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.E31D|SF3B4_uc009wll.1_Missense_Mutation_p.E31D	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	31	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGAGAAACAGTTCCCACAGCA	0.542												
ADAMTSL4	54507	broad.mit.edu	37	1	150530959	150530959	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150530959G>A	uc001eux.2	+	15	2629	c.2393G>A	c.(2392-2394)CGG>CAG	p.R798Q	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R798Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R821Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R759Q|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	798	TSP type-1 3.				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)			TGCTCCGTGCGGTGCGGCCGG	0.657												
ADAMTSL4	54507	broad.mit.edu	37	1	150530983	150530983	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150530983G>A	uc001eux.2	+	15	2653	c.2417G>A	c.(2416-2418)CGG>CAG	p.R806Q	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R806Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R829Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R767Q|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	806	TSP type-1 3.				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)			CAGAGAAGCCGGCAGGTTCGC	0.662												
ADAMTSL4	54507	broad.mit.edu	37	1	150532582	150532582	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:150532582G>T	uc001eux.2	+	19	3371	c.3135G>T	c.(3133-3135)CAG>CAT	p.Q1045H	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.Q1068H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.Q1006H|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.Q208H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	1045	PLAC.				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)			TGGTGGTACAGGCCCGGCTCT	0.622											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KPRP	448834	broad.mit.edu	37	1	152733224	152733224	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:152733224G>A	uc001fal.1	+	2	1218	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	387	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACGGCGTCTTGACCAG	0.642												
INTS3	65123	broad.mit.edu	37	1	153745538	153745538	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:153745538C>T	uc009wom.2	+	30	3253	c.3032C>T	c.(3031-3033)TCG>TTG	p.S1011L	INTS3_uc001fct.2_Missense_Mutation_p.S1011L|INTS3_uc001fcu.2_Missense_Mutation_p.S703L|INTS3_uc001fcv.2_Missense_Mutation_p.S805L|INTS3_uc010peb.1_Missense_Mutation_p.S871L|INTS3_uc001fcw.2_Missense_Mutation_p.S524L|INTS3_uc010pec.1_Missense_Mutation_p.S524L|INTS3_uc001fcy.2_Missense_Mutation_p.S374L|INTS3_uc001fcx.2_Missense_Mutation_p.S308L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	1012					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)			GAAGAAGAGTCGGGCTCCAGC	0.612												
ADAR	103	broad.mit.edu	37	1	154569663	154569663	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:154569663G>A	uc001ffh.2	-	5	2215	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V	ADAR_uc001ffj.2_Missense_Mutation_p.A672V|ADAR_uc001ffi.2_Missense_Mutation_p.A672V|ADAR_uc001ffk.2_Missense_Mutation_p.A377V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	672	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTCCTCTGCGGCCATCTGCTT	0.532												
ZBTB7B	51043	broad.mit.edu	37	1	154987740	154987740	+	Missense_Mutation	SNP	C	C	T	rs150590726		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:154987740C>T	uc001fgk.3	+	3	762	c.604C>T	c.(604-606)CGC>TGC	p.R202C	ZBTB7B_uc009wpa.2_Missense_Mutation_p.R202C|ZBTB7B_uc001fgj.3_Missense_Mutation_p.R236C|ZBTB7B_uc010peq.1_Missense_Mutation_p.R236C|ZBTB7B_uc001fgl.3_Missense_Mutation_p.R202C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	202					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCCGCAGCCGCAAGCCCCG	0.652												
DCST1	149095	broad.mit.edu	37	1	155015940	155015940	+	Missense_Mutation	SNP	T	T	C	rs141900210		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155015940T>C	uc001fgn.1	+	10	1223	c.1127T>C	c.(1126-1128)CTG>CCG	p.L376P	DCST1_uc010per.1_Missense_Mutation_p.L401P|DCST1_uc010pes.1_Missense_Mutation_p.L351P	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	376	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCCCTGGGGCTGCTGCACGTG	0.692												
HCN3	57657	broad.mit.edu	37	1	155253807	155253807	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155253807A>G	uc001fjz.1	+	3	759	c.751A>G	c.(751-753)ATC>GTC	p.I251V	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	251	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(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)			TGTGGTTCGCATCTTCAACCT	0.577												
PKLR	5313	broad.mit.edu	37	1	155263029	155263029	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155263029C>T	uc001fkb.3	-	9	1414	c.1375G>A	c.(1375-1377)GCT>ACT	p.A459T	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.A428T	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	459			A -> V (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCCTCCACAGCACCAATGGCG	0.612												
RUSC1	23623	broad.mit.edu	37	1	155300198	155300198	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155300198G>A	uc001fkj.2	+	10	2774	c.2545G>A	c.(2545-2547)GTG>ATG	p.V849M	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.V743M|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.V380M|RUSC1_uc001fkl.2_Missense_Mutation_p.V439M|RUSC1_uc001fkp.2_Missense_Mutation_p.V380M|RUSC1_uc001fkq.2_Missense_Mutation_p.V274M|RUSC1_uc010pgb.1_Missense_Mutation_p.V347M|RUSC1_uc009wqp.1_Missense_Mutation_p.V374M|RUSC1_uc001fkn.2_Missense_Mutation_p.V158M|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.V380M|RUSC1_uc001fks.2_Missense_Mutation_p.V116M	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	849	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCAGGGCAGTGCGGGCTCT	0.612												
GON4L	54856	broad.mit.edu	37	1	155823178	155823178	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155823178T>C	uc001flz.2	-	2	491	c.394A>G	c.(394-396)AAA>GAA	p.K132E	GON4L_uc001fly.1_Missense_Mutation_p.K132E|GON4L_uc009wrh.1_Missense_Mutation_p.K132E|GON4L_uc001fma.1_Missense_Mutation_p.K132E|GON4L_uc001fmc.2_Missense_Mutation_p.K132E|GON4L_uc001fmd.3_Missense_Mutation_p.K132E|GON4L_uc009wri.2_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	132					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCATTTTTTTCCCTCTCTTT	0.458												
ARHGEF2	9181	broad.mit.edu	37	1	155931509	155931509	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155931509G>A	uc001fmt.2	-	11	1529	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R443C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R470C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R515C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R444C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R516C	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	471					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGAGTTTGCGCCTCAGAAGT	0.602												
IQGAP3	128239	broad.mit.edu	37	1	156507037	156507037	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156507037G>A	uc001fpf.2	-	27	3433	c.3358C>T	c.(3358-3360)CGC>TGC	p.R1120C		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1120	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGGTTGCGTAGGGCGATG	0.567												
IQGAP3	128239	broad.mit.edu	37	1	156521764	156521764	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156521764A>G	uc001fpf.2	-	14	1645	c.1570_splice	c.e14+1	p.R524_splice	IQGAP3_uc009wsb.1_Splice_Site_p.R481_splice	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTATACTTACGGTCAGTCT	0.572												
FCRL3	115352	broad.mit.edu	37	1	157665902	157665902	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:157665902C>A	uc001frb.2	-	7	1352	c.1060G>T	c.(1060-1062)GGG>TGG	p.G354W	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G354W|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G80W|FCRL3_uc001frc.1_Missense_Mutation_p.G354W	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	354	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TAGTATCTCCCTGCATCACTC	0.522												
OR10J1	26476	broad.mit.edu	37	1	159410002	159410002	+	Missense_Mutation	SNP	C	C	T	rs139843472	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:159410002C>T	uc010piv.1	+	1	454	c.454C>T	c.(454-456)CGT>TGT	p.R152C	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	152	Helical; Name=4; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CAAGAGGCTGCGTATCCAACT	0.498												
KCNJ10	3766	broad.mit.edu	37	1	160011355	160011355	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:160011355T>C	uc001fuw.1	-	2	1118	c.968A>G	c.(967-969)TAC>TGC	p.Y323C		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	323	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAGCTATGTATTTACCACT	0.532												
ARHGAP30	257106	broad.mit.edu	37	1	161022247	161022247	+	Missense_Mutation	SNP	C	C	T	rs149524176	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161022247C>T	uc001fxl.2	-	8	1269	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	ARHGAP30_uc001fxk.2_Missense_Mutation_p.R308Q|ARHGAP30_uc001fxm.2_Missense_Mutation_p.R154Q|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R154Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	308					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCAGCCCCCCGTGGAAGTTT	0.537												
USP21	27005	broad.mit.edu	37	1	161130687	161130687	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161130687A>G	uc010pke.1	+	3	634	c.257A>G	c.(256-258)CAT>CGT	p.H86R	USP21_uc010pkc.1_Missense_Mutation_p.H86R|USP21_uc010pkd.1_Missense_Mutation_p.H86R|USP21_uc010pkf.1_Missense_Mutation_p.H86R	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	86					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGAGCAGATCATGGGGTTCCC	0.637												
FCGR2A	2212	broad.mit.edu	37	1	161476270	161476270	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161476270C>T	uc001gan.2	+	3	306	c.253C>T	c.(253-255)CAC>TAC	p.H85Y	FCGR2A_uc001gam.2_Missense_Mutation_p.H84Y|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	85	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATTCCCACCCACACGCAGCC	0.597												
OLFML2B	25903	broad.mit.edu	37	1	161953757	161953757	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:161953757G>A	uc001gbu.2	-	8	2385	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	OLFML2B_uc001gbt.2_Missense_Mutation_p.A137V|OLFML2B_uc010pkq.1_Missense_Mutation_p.A655V	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	654	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTCAGGTCCGCGGCATTGAG	0.587												
LMX1A	4009	broad.mit.edu	37	1	165175203	165175203	+	Missense_Mutation	SNP	G	G	A	rs140864022		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:165175203G>A	uc001gcy.1	-	7	1107	c.886C>T	c.(886-888)CCA>TCA	p.P296S	LMX1A_uc001gcz.1_Missense_Mutation_p.P296S|LMX1A_uc001gcw.1_Missense_Mutation_p.P14S|LMX1A_uc001gcx.1_Missense_Mutation_p.P47S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					AGCTGCTGTGGGGTGGGCAGA	0.577												
ILDR2	387597	broad.mit.edu	37	1	166927191	166927191	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:166927191C>T	uc001gdx.1	-	2	250	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	65	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						TTCTCCCATGCGATCCTGGCA	0.557												
SLC9A11	284525	broad.mit.edu	37	1	173526643	173526643	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:173526643G>T	uc001giz.2	-	10	1474	c.1051C>A	c.(1051-1053)CTT>ATT	p.L351I	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	351	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAAATAGTAAGCAACCTGTGG	0.299												
RC3H1	149041	broad.mit.edu	37	1	173952672	173952672	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:173952672C>T	uc001gju.3	-	3	563	c.476G>A	c.(475-477)CGA>CAA	p.R159Q	RC3H1_uc010pms.1_Missense_Mutation_p.R159Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R159Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R159Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	159					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACCTAAAGATCGAGCTGCCCT	0.507												
RABGAP1L	9910	broad.mit.edu	37	1	174219653	174219653	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:174219653G>A	uc001gjx.2	+	6	953	c.758G>A	c.(757-759)CGT>CAT	p.R253H	RABGAP1L_uc009wwq.1_Missense_Mutation_p.R253H|RABGAP1L_uc001gjw.2_Missense_Mutation_p.R216H|RABGAP1L_uc001gjy.2_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	253	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GCATTCAAACGTTCTTCCAGA	0.373												
TOR1AIP1	26092	broad.mit.edu	37	1	179886654	179886654	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:179886654A>G	uc001gnq.2	+	10	1250	c.1032A>G	c.(1030-1032)ATA>ATG	p.I344M		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	344	Helical; (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						TTCCTCTGATAGCTGCTCTTG	0.418												
CACNA1E	777	broad.mit.edu	37	1	181680204	181680204	+	Silent	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:181680204A>C	uc001gow.2	+	8	1335	c.1170A>C	c.(1168-1170)GCA>GCC	p.A390A	CACNA1E_uc009wxs.2_Silent_p.A297A	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	390	Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).				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						TAGACAAAGCAGGTAGGCCTG	0.607												
CACNA1E	777	broad.mit.edu	37	1	181721320	181721320	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:181721320G>A	uc001gow.2	+	27	3938	c.3773G>A	c.(3772-3774)CGG>CAG	p.R1258Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1146Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R484Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R484Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1258	III.|Helical; Name=S4 of repeat III.				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						AAGTCTCTGCGGGTGCTCCGA	0.498												
ZNF648	127665	broad.mit.edu	37	1	182026233	182026233	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:182026233G>A	uc001goz.2	-	2	1121	c.913C>T	c.(913-915)CGG>TGG	p.R305W		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGTAGGGCCGCTCGCCCGTG	0.692												
LAMC1	3915	broad.mit.edu	37	1	183072489	183072489	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:183072489C>T	uc001gpy.3	+	2	702	c.445C>T	c.(445-447)CGT>TGT	p.R149C	LAMC1_uc001gpx.2_Missense_Mutation_p.R149C	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	149	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTATGTGCGTCTCAAGTT	0.488												
C1orf25	81627	broad.mit.edu	37	1	185106736	185106736	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:185106736A>G	uc001grf.3	-	10	1785	c.1513_splice	c.e10+1	p.E505_splice	C1orf25_uc010pon.1_Splice_Site_p.E349_splice	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA							intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ACTTGAATTTACCTTCTACCA	0.318												
CFH	3075	broad.mit.edu	37	1	196709865	196709865	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:196709865G>A	uc001gtj.3	+	18	3139	c.2899G>A	c.(2899-2901)GGG>AGG	p.G967R		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	967	Sushi 16.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGGAATTGATGGGCCTGCAAT	0.363												
CFHR5	81494	broad.mit.edu	37	1	196973799	196973799	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:196973799G>T	uc001gts.3	+	9	1467	c.1339G>T	c.(1339-1341)GCA>TCA	p.A447S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	447	Sushi 8.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AGAGTCTACTGCATATTGTGG	0.373												
C1orf53	388722	broad.mit.edu	37	1	197874962	197874962	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:197874962T>C	uc001guh.2	+	2	399	c.301T>C	c.(301-303)TAT>CAT	p.Y101H		NM_001024594	NP_001019765	Q5VUE5	CA053_HUMAN	hypothetical protein LOC388722	101											0						AGCTACTGGCTATGTGGTGCT	0.423												
ZNF281	23528	broad.mit.edu	37	1	200378080	200378080	+	Missense_Mutation	SNP	C	C	T	rs149674415	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:200378080C>T	uc001gve.2	-	2	861	c.754G>A	c.(754-756)GCC>ACC	p.A252T	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Missense_Mutation_p.A252T|ZNF281_uc001gvg.1_Missense_Mutation_p.A216T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	252					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						GAGAGGATGGCACCTTCTCCA	0.483												
KIF14	9928	broad.mit.edu	37	1	200561223	200561223	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:200561223A>G	uc010ppk.1	-	16	3237	c.2798T>C	c.(2797-2799)ATG>ACG	p.M933T	KIF14_uc010ppj.1_Missense_Mutation_p.M442T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	933	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCTCTGTGCCATGAGCAACTC	0.383												
TMEM183A	92703	broad.mit.edu	37	1	202976930	202976930	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:202976930T>C	uc001gyu.1	+	2	196	c.138T>C	c.(136-138)GAT>GAC	p.D46D	TMEM183A_uc009xai.1_Silent_p.D46D|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.D46D|TMEM183A_uc001gyx.1_Silent_p.D46D	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	46						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			CCAACTCGGATCCGGCGGTCG	0.582												
TMEM183A	92703	broad.mit.edu	37	1	202984028	202984028	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:202984028G>A	uc001gyu.1	+	4	437	c.379G>A	c.(379-381)GGG>AGG	p.G127R	TMEM183A_uc009xai.1_Missense_Mutation_p.G127R|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.G126R|TMEM183A_uc001gyx.1_Missense_Mutation_p.G126R	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	127						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGAACTGGACGGGGCTGGAGG	0.398												
ADORA1	134	broad.mit.edu	37	1	203097975	203097975	+	Silent	SNP	G	G	A	rs61731145	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:203097975G>A	uc001gze.1	+	3	439	c.6G>A	c.(4-6)CCG>CCA	p.P2P	ADORA1_uc001gzf.1_Silent_p.P2P|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_Intron|ADORA1_uc010pqh.1_Intron	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	2	Extracellular (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCGCCATGCCGCCCTCCATCT	0.662												
PM20D1	148811	broad.mit.edu	37	1	205814522	205814522	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:205814522T>C	uc001hdj.2	-	3	465	c.420A>G	c.(418-420)CCA>CCG	p.P140P	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	140						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCCAGAGAATGGGGGCACCT	0.572												
DYRK3	8444	broad.mit.edu	37	1	206821237	206821237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:206821237C>T	uc001hej.2	+	3	862	c.694C>T	c.(694-696)CGA>TGA	p.R232*	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Nonsense_Mutation_p.R212*	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	232	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCACAAACTTCGACAGTACGT	0.468												
CR2	1380	broad.mit.edu	37	1	207647197	207647197	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:207647197G>A	uc001hfw.2	+	11	2124	c.2030G>A	c.(2029-2031)CGT>CAT	p.R677H	CR2_uc001hfv.2_Missense_Mutation_p.R736H|CR2_uc009xch.2_Missense_Mutation_p.R677H	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	677	Sushi 11.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCTGGTTCACGTGTGGAGCTA	0.418												
CR1L	1379	broad.mit.edu	37	1	207870962	207870962	+	Missense_Mutation	SNP	G	G	A	rs114605476	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:207870962G>A	uc001hga.3	+	6	1098	c.977G>A	c.(976-978)GGA>GAA	p.G326E	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	326	Sushi 5.					cytoplasm|extracellular region|membrane					0						GACCTCAGAGGATCTACGTAT	0.542												
PLXNA2	5362	broad.mit.edu	37	1	208390570	208390570	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:208390570A>G	uc001hgz.2	-	2	1456	c.698T>C	c.(697-699)CTG>CCG	p.L233P	PLXNA2_uc001hha.3_Missense_Mutation_p.L287P	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	233	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCAGGGCCAGGGTGTCTGA	0.557												
LAMB3	3914	broad.mit.edu	37	1	209797250	209797250	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:209797250C>T	uc001hhg.2	-	14	2462	c.2072G>A	c.(2071-2073)GGT>GAT	p.G691D	LAMB3_uc009xco.2_Missense_Mutation_p.G691D|LAMB3_uc001hhh.2_Missense_Mutation_p.G691D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	691	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTAAGGAGACCATTGAAGCT	0.552												
HHAT	55733	broad.mit.edu	37	1	210577992	210577992	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:210577992C>A	uc009xcx.2	+	6	819	c.653C>A	c.(652-654)CCC>CAC	p.P218H	HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Missense_Mutation_p.P218H|HHAT_uc010psr.1_Missense_Mutation_p.P219H|HHAT_uc010pss.1_Missense_Mutation_p.P173H|HHAT_uc009xcy.2_Missense_Mutation_p.P153H|HHAT_uc010pst.1_Missense_Mutation_p.P155H|HHAT_uc010psu.1_Missense_Mutation_p.P153H	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	218	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACAATGGGCCCATCCTCAGC	0.527												
KCNH1	3756	broad.mit.edu	37	1	211192300	211192300	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:211192300A>C	uc001hib.2	-	6	1027	c.857T>G	c.(856-858)CTT>CGT	p.L286R	KCNH1_uc001hic.2_Missense_Mutation_p.L286R	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	286	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGCGGATAAGTTTGGGGTC	0.443												
PPP2R5A	5525	broad.mit.edu	37	1	212515580	212515580	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:212515580T>C	uc001hjb.2	+	4	1105	c.531T>C	c.(529-531)CCT>CCC	p.P177P	PPP2R5A_uc010ptd.1_Silent_p.P118P	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	177					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATTTCCAGCCTAGCATTGCAA	0.338												
PARP1	142	broad.mit.edu	37	1	226555951	226555951	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:226555951G>A	uc001hqd.3	-	16	2397	c.2226C>T	c.(2224-2226)CAC>CAT	p.H742H		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	742	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCCAAAGTCGTGGGGGATCA	0.572								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
OBSCN	84033	broad.mit.edu	37	1	228400306	228400306	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:228400306C>T	uc009xez.1	+	2	866	c.822C>T	c.(820-822)GAC>GAT	p.D274D	OBSCN_uc001hsn.2_Silent_p.D274D|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	274	Ig-like 3.				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)				GGAAGAAGGACGGCCAGCTGG	0.677												
TAF5L	27097	broad.mit.edu	37	1	229730525	229730525	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:229730525T>C	uc001htq.2	-	5	1455	c.1289A>G	c.(1288-1290)GAC>GGC	p.D430G		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	430	WD 4.				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTGACACAGTCCACATCTGC	0.587												
PGBD5	79605	broad.mit.edu	37	1	230492787	230492787	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:230492787G>A	uc010pwb.1	-	2	405	c.405C>T	c.(403-405)AGC>AGT	p.S135S	PGBD5_uc001htv.2_Silent_p.S234S	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	135						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCGGGCCTGGCTCATGACGA	0.617												
TSNAX	7257	broad.mit.edu	37	1	231700291	231700291	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:231700291G>T	uc001huw.2	+	6	671	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	TSNAX-DISC1_uc010pwe.1_Intron|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	171	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CTGATGCACAGGATAAGCAGT	0.413												
LGALS8	3964	broad.mit.edu	37	1	236703909	236703909	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:236703909G>A	uc001hxz.1	+	6	772	c.391G>A	c.(391-393)GGC>AGC	p.G131S	LGALS8_uc001hxw.1_Missense_Mutation_p.G131S|LGALS8_uc001hxy.1_Missense_Mutation_p.G131S|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.G131S|LGALS8_uc001hyb.1_Missense_Mutation_p.G131S|LGALS8_uc001hyc.1_Intron	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	131	Galectin 1.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCACAGGATCGGCCCAGAGAA	0.463												
RYR2	6262	broad.mit.edu	37	1	237870288	237870288	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:237870288A>G	uc001hyl.1	+	68	9740	c.9620A>G	c.(9619-9621)AAC>AGC	p.N3207S	RYR2_uc010pxz.1_Missense_Mutation_p.N162S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3207					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGTCCAAACATACCGTCT	0.423												
KIF26B	55083	broad.mit.edu	37	1	245809424	245809424	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:245809424G>A	uc001ibf.1	+	10	2540	c.2100G>A	c.(2098-2100)ATG>ATA	p.M700I	KIF26B_uc010pyq.1_Missense_Mutation_p.M700I|KIF26B_uc001ibg.1_Missense_Mutation_p.M318I|KIF26B_uc001ibh.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	700	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGTGGTAGTGTCTGGAGGTC	0.478												
ZNF124	7678	broad.mit.edu	37	1	247319982	247319982	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:247319982T>C	uc001ick.2	-	4	1081	c.942A>G	c.(940-942)GGA>GGG	p.G314G	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Silent_p.G252G	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AGGGTTTCTCTCCAGTATGAG	0.398												
OR2G3	81469	broad.mit.edu	37	1	247769393	247769393	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:247769393G>A	uc010pyz.1	+	1	506	c.506G>A	c.(505-507)TGT>TAT	p.C169Y		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGCCTCTCTGTGGCAACCAT	0.468												
TRIM58	25893	broad.mit.edu	37	1	248028080	248028080	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:248028080A>G	uc001ido.2	+	3	638	c.590A>G	c.(589-591)GAG>GGG	p.E197G		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	197	Potential.					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)			GCCCAGGAGGAGCAACGGCAG	0.612												
DIP2C	22982	broad.mit.edu	37	10	465046	465046	+	Missense_Mutation	SNP	G	G	A	rs77328768	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:465046G>A	uc001ifp.2	-	6	788	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	233						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTACTTGGGCGCTGTCCGGGA	0.557												
TUBAL3	79861	broad.mit.edu	37	10	5437415	5437415	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5437415G>A	uc001ihy.2	-	3	311	c.271C>T	c.(271-273)CGT>TGT	p.R91C	TUBAL3_uc001ihz.2_Missense_Mutation_p.R51C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	91					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						AAGAGTGAACGGTGCTGGCCC	0.597												
NET1	10276	broad.mit.edu	37	10	5495290	5495290	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5495290T>C	uc001iia.2	+	7	810	c.672T>C	c.(670-672)TCT>TCC	p.S224S	NET1_uc010qar.1_Silent_p.S43S|NET1_uc001iib.2_Silent_p.S170S|NET1_uc010qas.1_Silent_p.S43S	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	224	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						ATCTGGACTCTTACATACCTC	0.408												
FBXO18	84893	broad.mit.edu	37	10	5957467	5957467	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:5957467C>T	uc001iis.2	+	9	1593	c.1498C>T	c.(1498-1500)CGC>TGC	p.R500C	FBXO18_uc001iir.2_Missense_Mutation_p.R426C|FBXO18_uc009xig.2_Missense_Mutation_p.R426C|FBXO18_uc001iit.2_Missense_Mutation_p.R551C	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	500					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						GCAGGCCGAACGCGTCTTCCC	0.532												
PRKCQ	5588	broad.mit.edu	37	10	6553148	6553148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:6553148G>A	uc001ijj.1	-	3	202	c.127C>T	c.(127-129)CAG>TAG	p.Q43*	PRKCQ_uc009xim.1_Nonsense_Mutation_p.Q43*|PRKCQ_uc001iji.1_Nonsense_Mutation_p.Q76*|PRKCQ_uc009xin.1_Nonsense_Mutation_p.Q7*|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	43	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						ATATACATCTGCCCGTTCTCT	0.458												
CELF2	10659	broad.mit.edu	37	10	11363285	11363285	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:11363285G>A	uc001iki.3	+	11	1283	c.1191G>A	c.(1189-1191)GCG>GCA	p.A397A	CELF2_uc010qbj.1_Silent_p.A403A|CELF2_uc001ikk.2_Silent_p.A422A|CELF2_uc001ikl.3_Silent_p.A410A|CELF2_uc010qbl.1_Silent_p.A373A|CELF2_uc010qbm.1_Silent_p.A169A|CELF2_uc001iko.3_Silent_p.A377A|CELF2_uc001ikp.3_Silent_p.A379A|CELF2_uc010qbn.1_Silent_p.A385A|CELF2_uc010qbo.1_Silent_p.A292A|CELF2_uc010qbp.1_Silent_p.A169A	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	397	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						CAGCCGCCGCGCTGCCCACTC	0.662												
FRMD4A	55691	broad.mit.edu	37	10	13701408	13701408	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:13701408C>T	uc001ims.2	-	21	2333	c.1981G>A	c.(1981-1983)GGC>AGC	p.G661S	FRMD4A_uc009xjf.1_Missense_Mutation_p.G661S	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	661	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGCGGGAGGCCGCGGATGGGG	0.652												
NMT2	9397	broad.mit.edu	37	10	15172276	15172276	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:15172276A>G	uc001inz.1	-	7	839	c.755T>C	c.(754-756)GTT>GCT	p.V252A	NMT2_uc001ioa.1_Missense_Mutation_p.V239A|NMT2_uc009xjo.1_Missense_Mutation_p.V252A|NMT2_uc010qbz.1_Missense_Mutation_p.V64A	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	252					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						CTTCTTATGAACACAAAGAAA	0.413												
RSU1	6251	broad.mit.edu	37	10	16806444	16806444	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:16806444C>T	uc001iok.2	-	3	528	c.226G>A	c.(226-228)GAG>AAG	p.E76K	RSU1_uc001iol.2_Missense_Mutation_p.E76K|RSU1_uc001iom.2_Missense_Mutation_p.E23K|RSU1_uc001ion.2_Missense_Mutation_p.E76K	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	76	LRR 2.				cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		GGCAGCTCCTCGATTTGGTTA	0.463												
APBB1IP	54518	broad.mit.edu	37	10	26800723	26800723	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:26800723G>T	uc001iss.2	+	7	900	c.579G>T	c.(577-579)ATG>ATT	p.M193I	APBB1IP_uc009xks.1_Missense_Mutation_p.M193I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	193	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AGTCACTGATGGTGGATGAGC	0.483												
APBB1IP	54518	broad.mit.edu	37	10	26825134	26825134	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:26825134A>C	uc001iss.2	+	10	1353	c.1032A>C	c.(1030-1032)AAA>AAC	p.K344N	APBB1IP_uc009xks.1_Missense_Mutation_p.K344N	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	344	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						ATGTACCCAAAGGAAAGACTA	0.333												
YME1L1	10730	broad.mit.edu	37	10	27405252	27405252	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:27405252T>C	uc001iti.2	-	17	2095	c.1913A>G	c.(1912-1914)GAC>GGC	p.D638G	YME1L1_uc001itj.2_Missense_Mutation_p.D581G|YME1L1_uc010qdl.1_Missense_Mutation_p.D548G|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	638					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATTCCATCTGTCATTCTCAGG	0.318												
KIF5B	3799	broad.mit.edu	37	10	32306280	32306280	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:32306280C>T	uc001iwe.3	-	24	3022	c.2552G>A	c.(2551-2553)CGT>CAT	p.R851H		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	851					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TGCATTATCACGTACCAACTA	0.383												
C10orf68	79741	broad.mit.edu	37	10	33137552	33137552	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:33137552G>A	uc001iwn.3	+	19	2003	c.1530G>A	c.(1528-1530)ATG>ATA	p.M510I	C10orf68_uc001iwl.1_Missense_Mutation_p.M469I|C10orf68_uc001iwm.1_Missense_Mutation_p.M514I|C10orf68_uc010qei.1_Missense_Mutation_p.M486I|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	510										skin(2)|ovary(1)	3						ACAAAGATATGTCCGTACAAC	0.313												
PARD3	56288	broad.mit.edu	37	10	34759011	34759011	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:34759011A>G	uc010qej.1	-	4	582	c.582_splice	c.e4+1	p.K194_splice	PARD3_uc010qek.1_Splice_Site_p.K194_splice|PARD3_uc010qel.1_Splice_Site_p.K194_splice|PARD3_uc010qem.1_Splice_Site_p.K194_splice|PARD3_uc010qen.1_Splice_Site_p.K194_splice|PARD3_uc010qeo.1_Splice_Site_p.K194_splice|PARD3_uc010qep.1_Splice_Site_p.K194_splice|PARD3_uc010qeq.1_Splice_Site_p.K194_splice|PARD3_uc001ixp.1_Splice_Site_p.K59_splice|PARD3_uc001ixq.1_Splice_Site_p.K194_splice|PARD3_uc001ixr.1_Splice_Site_p.K194_splice|PARD3_uc001ixt.1_Splice_Site_p.K59_splice|PARD3_uc001ixu.1_Splice_Site_p.K194_splice	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				AGAGGTGGTTACCTTCCTGTC	0.517												
CREM	1390	broad.mit.edu	37	10	35495831	35495831	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:35495831G>T	uc001iyb.2	+	7	769	c.607G>T	c.(607-609)GGT>TGT	p.G203C	CREM_uc001ixy.2_5'UTR|CREM_uc001ixz.2_5'UTR|CREM_uc001iya.2_Missense_Mutation_p.G152C|CREM_uc001iyc.2_Missense_Mutation_p.G124C|CREM_uc001iyd.2_Missense_Mutation_p.G203C|CREM_uc001iye.2_Missense_Mutation_p.G140C|CREM_uc001iyf.2_Missense_Mutation_p.G173C|CREM_uc001iyg.2_Missense_Mutation_p.G110C|CREM_uc001iyh.2_Missense_Mutation_p.G148C|CREM_uc001iyi.2_Missense_Mutation_p.G85C|CREM_uc001iyj.2_Missense_Mutation_p.G82C|CREM_uc001iyk.2_Missense_Mutation_p.G82C|CREM_uc001iyl.2_Missense_Mutation_p.G24C|CREM_uc001iym.2_Missense_Mutation_p.G24C|CREM_uc001iyn.2_Missense_Mutation_p.G12C|CREM_uc001iyo.2_Missense_Mutation_p.G12C|CREM_uc001iyp.2_Missense_Mutation_p.G6C|CREM_uc001iyq.2_Missense_Mutation_p.G16C|CREM_uc001iyr.2_Missense_Mutation_p.G16C|CREM_uc001iys.2_5'UTR|CREM_uc001iyt.2_5'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	264					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCTGCCACTGGTGACATGCC	0.433												
ANKRD30A	91074	broad.mit.edu	37	10	37438712	37438712	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:37438712T>C	uc001iza.1	+	11	1511	c.1412T>C	c.(1411-1413)ATT>ACT	p.I471T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TAGCCTGCCATTGAAATGCAA	0.279												
FRMPD2	143162	broad.mit.edu	37	10	49419998	49419998	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:49419998C>A	uc001jgi.2	-	13	1717	c.1610G>T	c.(1609-1611)AGG>ATG	p.R537M	FRMPD2_uc001jgh.2_Missense_Mutation_p.R505M|FRMPD2_uc001jgj.2_Missense_Mutation_p.R515M	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	537	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		AGGCCTTACCCTCAAGAACTT	0.577												
EGR2	1959	broad.mit.edu	37	10	64573280	64573280	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:64573280C>T	uc010qim.1	-	3	1272	c.1118G>A	c.(1117-1119)CGG>CAG	p.R373Q	EGR2_uc010qin.1_Missense_Mutation_p.R323Q|EGR2_uc001jmi.2_Missense_Mutation_p.R373Q|EGR2_uc010qio.1_Missense_Mutation_p.R386Q|EGR2_uc009xph.2_Missense_Mutation_p.R373Q	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	373	C2H2-type 2.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CATGCAGATCCGACACTGGAA	0.617												
JMJD1C	221037	broad.mit.edu	37	10	64949203	64949203	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:64949203T>C	uc001jmn.2	-	18	6595	c.6295A>G	c.(6295-6297)AGC>GGC	p.S2099G	JMJD1C_uc001jml.2_Missense_Mutation_p.S1862G|JMJD1C_uc001jmm.2_Missense_Mutation_p.S1811G|JMJD1C_uc010qiq.1_Missense_Mutation_p.S1917G|JMJD1C_uc009xpi.2_Missense_Mutation_p.S1917G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.S6G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2099					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)					CCACTTTTGCTACTCTATTAA	0.303												
STOX1	219736	broad.mit.edu	37	10	70645584	70645584	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:70645584G>A	uc001jos.2	+	3	2119	c.2032G>A	c.(2032-2034)GTG>ATG	p.V678M	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.V568M	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	678						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CCCAGTTGGCGTGAACCCTTT	0.423												
SUPV3L1	6832	broad.mit.edu	37	10	70949034	70949034	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:70949034C>T	uc001jpe.1	+	5	639	c.584C>T	c.(583-585)GCT>GTT	p.A195V	SUPV3L1_uc010qjd.1_Missense_Mutation_p.A64V	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	195	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						TACCCAGATGCTAGAGCCATG	0.403												
PLA2G12B	84647	broad.mit.edu	37	10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:74700992C>T	uc001jtf.1	-	3	468	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	PLA2G12B_uc009xqt.1_Missense_Mutation_p.R44Q|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R134Q	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502												
USP54	159195	broad.mit.edu	37	10	75280778	75280778	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75280778A>G	uc001juo.2	-	16	2387	c.2370T>C	c.(2368-2370)AGT>AGC	p.S790S	USP54_uc010qkk.1_Intron|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_RNA|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.S790S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	790					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CAAAGCCGTCACTCCTCCCTG	0.463												
FUT11	170384	broad.mit.edu	37	10	75533122	75533122	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75533122C>T	uc001jva.2	+	2	926	c.883C>T	c.(883-885)CGT>TGT	p.R295C	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.R295C	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	295	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					AAAACTGTGGCGTCCCATGCA	0.532												
NDST2	8509	broad.mit.edu	37	10	75565362	75565362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:75565362G>A	uc001jvk.2	-	8	2533	c.1729C>T	c.(1729-1731)CGA>TGA	p.R577*	NDST2_uc010qks.1_Nonsense_Mutation_p.R203*|NDST2_uc010qkt.1_Nonsense_Mutation_p.R454*|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Nonsense_Mutation_p.R203*|NDST2_uc010qku.1_Nonsense_Mutation_p.R452*	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	577	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					AGGGGGCTTCGCTCCTGAGGG	0.463												
SAMD8	142891	broad.mit.edu	37	10	76910318	76910318	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:76910318G>A	uc001jwx.1	+	2	135	c.32G>A	c.(31-33)CGC>CAC	p.R11H	SAMD8_uc001jwy.1_Missense_Mutation_p.R11H	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	11					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCATTCGCCGCTGGACTACC	0.433												
CDHR1	92211	broad.mit.edu	37	10	85973847	85973847	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:85973847C>T	uc001kcv.2	+	17	2050	c.2050C>T	c.(2050-2052)CGG>TGG	p.R684W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R388W|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	684	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GACCCTCTCCCGGAGCCCCAT	0.572												
GRID1	2894	broad.mit.edu	37	10	87898605	87898605	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:87898605G>T	uc001kdl.1	-	4	798	c.697C>A	c.(697-699)CCA>ACA	p.P233T	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	233	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCTCCCTGTGGGCTGAGCAGC	0.612										Multiple Myeloma(13;0.14)		
BTAF1	9044	broad.mit.edu	37	10	93749219	93749219	+	Silent	SNP	G	G	A	rs142341012		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:93749219G>A	uc001khr.2	+	20	2834	c.2736G>A	c.(2734-2736)ACG>ACA	p.T912T	BTAF1_uc001khs.1_Silent_p.T582T|BTAF1_uc001kht.1_Silent_p.T350T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	912					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CAACAAGGACGCCCTGTCCCA	0.403												
PLCE1	51196	broad.mit.edu	37	10	95790896	95790896	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:95790896A>G	uc001kjk.2	+	2	727	c.93A>G	c.(91-93)GAA>GAG	p.E31E	PLCE1_uc010qnx.1_Silent_p.E31E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	31					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				AAAGTAGTGAAAAGGTCTCAG	0.418												
PLCE1	51196	broad.mit.edu	37	10	96084180	96084180	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:96084180G>T	uc001kjk.2	+	31	7210	c.6576G>T	c.(6574-6576)GAG>GAT	p.E2192D	PLCE1_uc010qnx.1_Missense_Mutation_p.E2176D|PLCE1_uc001kjm.2_Missense_Mutation_p.E1884D|PLCE1_uc001kjp.2_Missense_Mutation_p.E550D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2192	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TTTTGGAAGAGGTGGTGAAAG	0.463												
SORBS1	10580	broad.mit.edu	37	10	97135731	97135731	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:97135731G>A	uc001kkp.2	-	17	1781	c.1736C>T	c.(1735-1737)CCG>CTG	p.P579L	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.P181L|SORBS1_uc001kkn.2_Missense_Mutation_p.P366L|SORBS1_uc001kkm.2_Missense_Mutation_p.P435L|SORBS1_uc001kko.2_Missense_Mutation_p.P601L|SORBS1_uc001kkq.2_Missense_Mutation_p.P464L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.P533L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	579					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TAAACTTACCGGTTTCCCAAA	0.373												
ENTPD1	953	broad.mit.edu	37	10	97599483	97599483	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:97599483A>G	uc001klh.3	+	3	504	c.180A>G	c.(178-180)ACA>ACG	p.T60T	ENTPD1_uc001kle.1_Silent_p.T67T|ENTPD1_uc001kli.3_Silent_p.T67T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.T72T|ENTPD1_uc010qok.1_5'UTR|ENTPD1_uc010qol.1_5'UTR|ENTPD1_uc010qom.1_Silent_p.T60T|ENTPD1_uc010qon.1_5'UTR|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	60	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTTCTCACACAAGTTTATACA	0.428												
PIK3AP1	118788	broad.mit.edu	37	10	98469667	98469667	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98469667G>A	uc001kmq.2	-	2	215	c.87C>T	c.(85-87)ACC>ACT	p.T29T		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	29						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACAGGAACAGGGTCTGCAGGT	0.597												
SLIT1	6585	broad.mit.edu	37	10	98820480	98820480	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98820480G>A	uc001kmw.2	-	9	1110	c.858C>T	c.(856-858)TGC>TGT	p.C286C	SLIT1_uc009xvh.1_Silent_p.C286C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	286	LRRNT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCTGCAGGTGCACATGGCCG	0.662												
ABCC2	1244	broad.mit.edu	37	10	101606727	101606727	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:101606727C>A	uc001kqf.2	+	30	4295	c.4156C>A	c.(4156-4158)CTG>ATG	p.L1386M		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1386	Cytoplasmic (By similarity).|ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGACCCCATCCTGTTCTCTGG	0.532												
PAX2	5076	broad.mit.edu	37	10	102586780	102586780	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:102586780G>A	uc001krk.3	+	10	1655	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S	PAX2_uc001krl.3_Silent_p.P373P|PAX2_uc001krm.3_Missense_Mutation_p.G369S|PAX2_uc001kro.3_Missense_Mutation_p.G346S|PAX2_uc001krn.3_Missense_Mutation_p.G346S|PAX2_uc010qps.1_Missense_Mutation_p.G345S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	369					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CGAGTTCTCCGGCAACCCGTA	0.682												
SFXN3	81855	broad.mit.edu	37	10	102795320	102795320	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:102795320C>T	uc001ksp.2	+	4	696	c.240C>T	c.(238-240)TCC>TCT	p.S80S	SFXN3_uc001ksq.2_Silent_p.S80S|SFXN3_uc010qpx.1_Silent_p.S80S	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	80					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGTATGACTCCGCCTTCCATC	0.597												
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:104184490G>A	uc001kvn.2	-	3	285	c.134C>T	c.(133-135)TCG>TTG	p.S45L	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587												
PDCD11	22984	broad.mit.edu	37	10	105177579	105177579	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:105177579C>T	uc001kwy.1	+	14	1888	c.1801C>T	c.(1801-1803)CCA>TCA	p.P601S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	601	S1 motif 6.				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)		GAACTGTGAGCCATCCAAAGA	0.522												
SORCS3	22986	broad.mit.edu	37	10	106976777	106976777	+	Silent	SNP	C	C	T	rs143982937	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:106976777C>T	uc001kyi.1	+	19	2858	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	877	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		CCATCGAGGACGGCATCAAGC	0.527												
PDCD4	27250	broad.mit.edu	37	10	112647631	112647631	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:112647631C>A	uc001kzh.2	+	6	1007	c.764C>A	c.(763-765)CCT>CAT	p.P255H	PDCD4_uc001kzg.2_Missense_Mutation_p.P244H|PDCD4_uc010qre.1_Missense_Mutation_p.P241H	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	255	MI 1.			P->A: Reduced inhibition of EIF4A1 helicase activity. Strongly reduced inhibition of translation.	apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGATACTCCTAGAGCACCA	0.358												
BAG3	9531	broad.mit.edu	37	10	121436448	121436448	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121436448A>T	uc001lem.2	+	4	1688	c.1382A>T	c.(1381-1383)GAG>GTG	p.E461V	BAG3_uc001lel.2_Missense_Mutation_p.E460V	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	461	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TTGACCAAAGAGCTGCTGGCC	0.522												
INPP5F	22876	broad.mit.edu	37	10	121541188	121541188	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121541188G>A	uc001leo.2	+	3	386	c.220G>A	c.(220-222)GTG>ATG	p.V74M	INPP5F_uc001len.3_Missense_Mutation_p.V74M	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	74							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAAAGCATTGGTGGGCAAACT	0.443												
C10orf88	80007	broad.mit.edu	37	10	124691943	124691943	+	Nonstop_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:124691943T>G	uc001lgw.2	-	6	1563	c.1338A>C	c.(1336-1338)TAA>TAC	p.*446Y	C10orf88_uc001lgx.2_Nonstop_Mutation_p.*348Y	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	446											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TGTTGAGAGCTTATCTTTCTC	0.343												
PSTK	118672	broad.mit.edu	37	10	124746960	124746960	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:124746960G>A	uc001lgy.1	+	6	1428	c.988G>A	c.(988-990)GCA>ACA	p.A330T		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	330							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		gtgcagaagcgcaaaggttgg	0.01												
CHST15	51363	broad.mit.edu	37	10	125804216	125804216	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:125804216A>G	uc001lhl.2	-	2	1279	c.766T>C	c.(766-768)TTC>CTC	p.F256L	CHST15_uc001lhm.2_Missense_Mutation_p.F256L|CHST15_uc001lhn.2_Missense_Mutation_p.F256L|CHST15_uc010que.1_Missense_Mutation_p.F256L|CHST15_uc001lho.2_Missense_Mutation_p.F256L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	256	Lumenal (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						ATGATGTAGAAGTGCGGCAGG	0.657												
LHPP	64077	broad.mit.edu	37	10	126205813	126205813	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:126205813C>T	uc001lhs.1	+	6	709	c.689C>T	c.(688-690)GCG>GTG	p.A230V	LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	230					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGAATGAGAGCGCTGCAGGTG	0.552												
ADAM12	8038	broad.mit.edu	37	10	127734632	127734632	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:127734632C>A	uc001ljk.2	-	17	2409	c.1996G>T	c.(1996-1998)GGC>TGC	p.G666C	ADAM12_uc010qul.1_Missense_Mutation_p.G617C|ADAM12_uc001ljm.2_Missense_Mutation_p.G666C|ADAM12_uc001ljn.2_Missense_Mutation_p.G663C|ADAM12_uc001ljl.3_Missense_Mutation_p.G663C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	666	Extracellular (Potential).|EGF-like.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCCCTCTGCCGTGGCACTGC	0.433												
FAM196A	642938	broad.mit.edu	37	10	128974248	128974248	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:128974248T>C	uc001lju.1	-	1	453	c.412A>G	c.(412-414)AGC>GGC	p.S138G	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.S138G|FAM196A_uc001ljv.1_Missense_Mutation_p.S138G|FAM196A_uc009yap.1_Missense_Mutation_p.S138G	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	138										ovary(2)	2						TTGTTTTGGCTTTTAAAGGGA	0.567												
KNDC1	85442	broad.mit.edu	37	10	135020704	135020704	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:135020704G>A	uc001llz.1	+	20	3644	c.3643G>A	c.(3643-3645)GCC>ACC	p.A1215T	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAACATCGCGGCCGCACCCTG	0.677												
ANO9	338440	broad.mit.edu	37	11	420541	420541	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:420541G>T	uc001lpi.2	-	19	1793	c.1708C>A	c.(1708-1710)CTC>ATC	p.L570I	ANO9_uc001lph.2_Missense_Mutation_p.L263I|ANO9_uc010qvv.1_Missense_Mutation_p.L426I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	570	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ATCTCCACGAGGTTGCTGAAG	0.682												
ANO9	338440	broad.mit.edu	37	11	428382	428382	+	Missense_Mutation	SNP	C	C	T	rs139493381	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:428382C>T	uc001lpi.2	-	14	1283	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	ANO9_uc001lph.2_Missense_Mutation_p.V93M|ANO9_uc010qvv.1_Missense_Mutation_p.V256M	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	400	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTCAGGGCCACGCACCTGTTG	0.687												
ANO9	338440	broad.mit.edu	37	11	428757	428757	+	Missense_Mutation	SNP	G	G	A	rs140961109	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:428757G>A	uc001lpi.2	-	12	1070	c.985C>T	c.(985-987)CGC>TGC	p.R329C	ANO9_uc001lph.2_Missense_Mutation_p.R22C|ANO9_uc010qvv.1_Missense_Mutation_p.R185C	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	329	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACGGTGCTGCGTAGGTAGGAG	0.652												
MUC6	4588	broad.mit.edu	37	11	1025196	1025196	+	Missense_Mutation	SNP	C	C	T	rs146061704	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1025196C>T	uc001lsw.2	-	23	3022	c.2971G>A	c.(2971-2973)GCC>ACC	p.A991T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	991	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGCACGGGCGATCCTGATG	0.667												
MUC5B	727897	broad.mit.edu	37	11	1261544	1261544	+	Silent	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1261544T>G	uc009ycr.1	+	46	6114	c.5988T>G	c.(5986-5988)CCT>CCG	p.P1996P	MUC5B_uc001ltb.2_Silent_p.P1306P|MUC5B_uc001lta.2_Silent_p.P971P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1303					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)		TGGCATGTCCTGGAACTCCAG	0.607												
INS-IGF2	723961	broad.mit.edu	37	11	2170469	2170469	+	Silent	SNP	G	G	A	rs78341923	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:2170469G>A	uc001lvm.2	-	3	353	c.294C>T	c.(292-294)GCC>GCT	p.A98A	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	98					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		ATGATCCGCCGGCCTGGCCAA	0.632												
INS-IGF2	723961	broad.mit.edu	37	11	2170496	2170496	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:2170496C>T	uc001lvm.2	-	3	326	c.267G>A	c.(265-267)TTG>TTA	p.L89L	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	89					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CAGTCACCACCAAAGCAGGGG	0.607												
CARS	833	broad.mit.edu	37	11	3028185	3028185	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3028185A>G	uc001lxh.2	-	18	1898	c.1824T>C	c.(1822-1824)CCT>CCC	p.P608P	CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Silent_p.P598P|CARS_uc001lxf.2_Silent_p.P691P|CARS_uc001lxg.2_Silent_p.P608P|CARS_uc010qxo.1_Silent_p.P691P|CARS_uc010qxp.1_Silent_p.P621P	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	608					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)	GCAGAATCTCAGGGACTGTAG	0.622			T	ALK	ALCL							
MRGPRE	116534	broad.mit.edu	37	11	3249900	3249900	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3249900C>T	uc001lxq.3	-	2	437	c.127G>A	c.(127-129)GCA>ACA	p.A43T		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	43	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAGGACTGCCCCATTCCCC	0.642												
PGAP2	27315	broad.mit.edu	37	11	3846621	3846621	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:3846621C>T	uc001lys.2	+	7	1007	c.881C>T	c.(880-882)ACG>ATG	p.T294M	PGAP2_uc001lyl.2_Missense_Mutation_p.T251M|PGAP2_uc010qxw.1_Missense_Mutation_p.T351M|PGAP2_uc010qxx.1_3'UTR|PGAP2_uc001lyp.3_3'UTR|PGAP2_uc010qxy.1_Missense_Mutation_p.T286M|PGAP2_uc010qxz.1_Missense_Mutation_p.T290M|PGAP2_uc001lyn.3_3'UTR|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_3'UTR|PGAP2_uc010qyb.1_3'UTR|PGAP2_uc001lyt.2_Missense_Mutation_p.T77M	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	294					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TTCCACATGACGGCCTGGTGG	0.527											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR51F1	256892	broad.mit.edu	37	11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4790663A>C	uc010qyl.1	-	1	485	c.485T>G	c.(484-486)CTT>CGT	p.L162R		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	162						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398												
OR52R1	119695	broad.mit.edu	37	11	4824880	4824880	+	Missense_Mutation	SNP	C	C	T	rs150778227		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4824880C>T	uc010qym.1	-	1	968	c.968G>A	c.(967-969)CGT>CAT	p.R323H		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGAGGAACGTGTGCTAAA	0.473												
OR51T1	401665	broad.mit.edu	37	11	4903923	4903923	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:4903923G>A	uc010qyp.1	+	1	875	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCACACCGCCTCTTCCAC	0.488												
OR51V1	283111	broad.mit.edu	37	11	5221797	5221797	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5221797G>C	uc010qyz.1	-	1	134	c.134C>G	c.(133-135)GCC>GGC	p.A45G		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	45	Helical; Name=1; (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)		AAGCACCATGGCATAGATTGA	0.507												
OR51M1	390059	broad.mit.edu	37	11	5410819	5410819	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5410819A>C	uc010qzc.1	+	1	191	c.191A>C	c.(190-192)AAC>ACC	p.N64T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	64						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAGACCAACCCTCGTCTG	0.473												
UBQLNL	143630	broad.mit.edu	37	11	5537570	5537570	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5537570T>C	uc001maz.3	-	1	387	c.102A>G	c.(100-102)ATA>ATG	p.I34M	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	34	Ubiquitin-like.									large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAGTCTTCACTATCACTCGAG	0.488												
OR52N5	390075	broad.mit.edu	37	11	5798944	5798944	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5798944T>G	uc010qzn.1	-	1	921	c.921A>C	c.(919-921)AAA>AAC	p.K307N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCGTATCTGTTTTGTCTTTA	0.388												
OR52N5	390075	broad.mit.edu	37	11	5799070	5799070	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:5799070G>T	uc010qzn.1	-	1	795	c.795C>A	c.(793-795)TTC>TTA	p.F265L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAAAGTGAAGAATGCTGGAA	0.483												
CNGA4	1262	broad.mit.edu	37	11	6261352	6261352	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6261352G>A	uc001mco.2	+	4	435	c.328G>A	c.(328-330)GTT>ATT	p.V110I	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.V70I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	110	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGTCGCTACGTTCGCACCTG	0.607												
TAF10	6881	broad.mit.edu	37	11	6632238	6632238	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6632238C>T	uc001mej.1	-	5	597	c.572G>A	c.(571-573)CGC>CAC	p.R191H		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	191					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGTACTTGCGGTCCTGAGG	0.313												
DCHS1	8642	broad.mit.edu	37	11	6650800	6650800	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6650800C>T	uc001mem.1	-	12	5454	c.5044G>A	c.(5044-5046)GGG>AGG	p.G1682R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1682	Cadherin 16.|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)		GTCACTTGCCCGTTGGCCCCT	0.557												
OR2AG1	144125	broad.mit.edu	37	11	6807156	6807156	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6807156G>A	uc001mer.1	+	1	888	c.888G>A	c.(886-888)GAG>GAA	p.E296E		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAATAAGGAGGTCATGCGGG	0.507												
OR10A5	144124	broad.mit.edu	37	11	6866973	6866973	+	Silent	SNP	A	A	G	rs141353777		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6866973A>G	uc001met.1	+	1	60	c.60A>G	c.(58-60)CTA>CTG	p.L20L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTCTTCCCTACCTACTGAAA	0.428												
OR2D3	120775	broad.mit.edu	37	11	6942342	6942342	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:6942342T>C	uc010rav.1	+	1	110	c.110T>C	c.(109-111)TTG>TCG	p.L37S		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	37	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACAGGACTTGCAGACCCAG	0.423												
CYB5R2	51700	broad.mit.edu	37	11	7690880	7690880	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:7690880T>C	uc001mfm.2	-	4	472	c.234A>G	c.(232-234)AGA>AGG	p.R78R	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.R78R|CYB5R2_uc009yfl.1_Silent_p.R78R	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	78	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACAAAGCCTCTGTCATCAT	0.483												
SCUBE2	57758	broad.mit.edu	37	11	9090944	9090944	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:9090944G>A	uc001mhh.1	-	5	696	c.616C>T	c.(616-618)CTG>TTG	p.L206L	SCUBE2_uc001mhi.1_Silent_p.L206L|SCUBE2_uc001mhj.1_Silent_p.L206L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	206	EGF-like 4 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCTTGGCCAGCTCAAAACCA	0.582												
AMPD3	272	broad.mit.edu	37	11	10500212	10500212	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:10500212A>C	uc001mio.1	+	3	696	c.361A>C	c.(361-363)ACG>CCG	p.T121P	AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.T130P|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.T121P|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T128P|AMPD3_uc009yfy.2_Missense_Mutation_p.T121P	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	121					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)		TTCCCTGCCCACGCCAGCACC	0.617												
ABCC8	6833	broad.mit.edu	37	11	17415246	17415246	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:17415246C>T	uc001mnc.2	-	38	4732	c.4606G>A	c.(4606-4608)GCG>ACG	p.A1536T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1536	Cytoplasmic (By similarity).|ABC transporter 2.				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)	CCCCTTACCGCGATGGTGACC	0.622												
MRGPRX1	259249	broad.mit.edu	37	11	18955646	18955646	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:18955646C>G	uc001mpg.2	-	1	904	c.686G>C	c.(685-687)GGC>GCC	p.G229A		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	229	Helical; Name=6; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						AAAGGGCAGGCCACAGAGGAG	0.488												
MRGPRX1	259249	broad.mit.edu	37	11	18955974	18955974	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:18955974G>A	uc001mpg.2	-	1	576	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GACAGGCAGCGCTCGGTGCTC	0.587												
MRGPRX2	117194	broad.mit.edu	37	11	19077584	19077584	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19077584G>A	uc001mph.2	-	2	454	c.366C>T	c.(364-366)ACC>ACT	p.T122T		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	122	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CGGTGCTGACGGTGCTCAGCA	0.597												
E2F8	79733	broad.mit.edu	37	11	19251862	19251862	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19251862C>A	uc001mpm.2	-	9	1806	c.1284G>T	c.(1282-1284)CAG>CAT	p.Q428H	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.Q428H	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	428					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTGCAGAATTCTGAGAACTCT	0.418												
E2F8	79733	broad.mit.edu	37	11	19256576	19256576	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:19256576C>T	uc001mpm.2	-	5	1003	c.481G>A	c.(481-483)GTG>ATG	p.V161M	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.V161M	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	161	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AGGACGTTCACGATATCGTAA	0.423												
HTATIP2	10553	broad.mit.edu	37	11	20398193	20398193	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:20398193G>A	uc009yia.1	+	4	437	c.371G>A	c.(370-372)TGC>TAC	p.C124Y	HTATIP2_uc009yib.1_Missense_Mutation_p.C124Y|HTATIP2_uc001mpx.2_Missense_Mutation_p.C158Y|HTATIP2_uc001mpz.2_Missense_Mutation_p.C124Y	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	124					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						GCTGGAGGGTGCAAACATTTC	0.393												
NELL1	4745	broad.mit.edu	37	11	20940864	20940864	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:20940864C>A	uc001mqe.2	+	7	896	c.743C>A	c.(742-744)GCC>GAC	p.A248D	NELL1_uc001mqf.2_Missense_Mutation_p.A248D|NELL1_uc009yid.2_Missense_Mutation_p.A276D|NELL1_uc010rdo.1_Missense_Mutation_p.A191D|NELL1_uc010rdp.1_Missense_Mutation_p.A8D	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	248					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GAGCTTTTGGCCAAGATGACT	0.318												
KIF18A	81930	broad.mit.edu	37	11	28104447	28104447	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:28104447T>C	uc001msc.2	-	9	1400	c.1218A>G	c.(1216-1218)CAA>CAG	p.Q406Q		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	406	Potential.				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						TTAACTTTGCTTGGTCATTTT	0.264												
EIF3M	10480	broad.mit.edu	37	11	32615494	32615494	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:32615494A>G	uc001mtu.2	+	6	659	c.616A>G	c.(616-618)AGG>GGG	p.R206G	EIF3M_uc010ref.1_Missense_Mutation_p.R74G	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	206						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					TGATGCCCACAGGTAATGTTA	0.403												
EIF3M	10480	broad.mit.edu	37	11	32616545	32616545	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:32616545G>A	uc001mtu.2	+	7	746	c.703G>A	c.(703-705)GAG>AAG	p.E235K	EIF3M_uc010ref.1_Missense_Mutation_p.E103K	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	235	PCI.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					TTTGGAAGGCGAGCTTATTCA	0.323												
CSTF3	1479	broad.mit.edu	37	11	33163287	33163287	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:33163287G>A	uc001muh.2	-	3	317	c.151C>T	c.(151-153)CGG>TGG	p.R51W	CSTF3_uc001mui.2_Missense_Mutation_p.R51W|CSTF3_uc001muj.2_3'UTR	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	51	HAT 1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TAAGTCTTCCGTGCTTTGTCT	0.249												
HSD17B12	51144	broad.mit.edu	37	11	43876298	43876298	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:43876298G>A	uc001mxq.3	+	10	953	c.718G>A	c.(718-720)GCT>ACT	p.A240T		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	240					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						TACAAAACTGGCTAAAATCCG	0.468												
EXT2	2132	broad.mit.edu	37	11	44253919	44253919	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:44253919C>T	uc001mxz.2	+	11	2013	c.1679C>T	c.(1678-1680)CCT>CTT	p.P560L	EXT2_uc010rfo.1_Missense_Mutation_p.P588L|EXT2_uc001mxy.2_Missense_Mutation_p.P573L|EXT2_uc009ykt.2_Missense_Mutation_p.P570L|EXT2_uc001mya.2_Missense_Mutation_p.P593L	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	560	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						CGGGAATTTCCTGACCGGTTG	0.478			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
PTPRJ	5795	broad.mit.edu	37	11	48158582	48158582	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:48158582T>C	uc001ngp.3	+	10	2256	c.1901T>C	c.(1900-1902)GTA>GCA	p.V634A	PTPRJ_uc010rhr.1_Missense_Mutation_p.V79A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	634	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AACATTGATGTAAGTACCAAC	0.408												
OR4A15	81328	broad.mit.edu	37	11	55135841	55135841	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55135841T>C	uc010rif.1	+	1	482	c.482T>C	c.(481-483)TTG>TCG	p.L161S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	161	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTCATGAATTGATCACCATG	0.418												
OR4P4	81300	broad.mit.edu	37	11	55406750	55406750	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55406750T>C	uc010rij.1	+	1	917	c.917T>C	c.(916-918)CTG>CCG	p.L306P		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CAAATACTCCTGAAAAGAAAT	0.398												
OR5D13	390142	broad.mit.edu	37	11	55541814	55541814	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:55541814A>G	uc010ril.1	+	1	901	c.901A>G	c.(901-903)AAC>GAC	p.N301D		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGATATCAATAACATGTTTGA	0.338												
OR5M9	390162	broad.mit.edu	37	11	56230449	56230449	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:56230449G>A	uc010rjj.1	-	1	429	c.429C>T	c.(427-429)ATC>ATT	p.I143I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					AAGGCACAGAGATGAGCCGAA	0.438												
OR4D10	390197	broad.mit.edu	37	11	59245321	59245321	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:59245321A>G	uc001nnz.1	+	1	419	c.419A>G	c.(418-420)CAT>CGT	p.H140R		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGTAGAGACCATTGCATTGGG	0.527												
MS4A10	341116	broad.mit.edu	37	11	60565880	60565880	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:60565880A>G	uc001npz.1	+	7	711	c.615A>G	c.(613-615)GCA>GCG	p.A205A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	205	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						ATGATGATGCATGCCTTGTTC	0.542												
TMEM109	79073	broad.mit.edu	37	11	60687309	60687309	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:60687309A>C	uc001nqg.2	+	2	522	c.144A>C	c.(142-144)GAA>GAC	p.E48D	TMEM109_uc001nqh.2_Missense_Mutation_p.E48D	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	48						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						AGAAGAGAGAAGCCCCAGTTG	0.557												
FEN1	2237	broad.mit.edu	37	11	61562938	61562938	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:61562938C>A	uc001nsg.2	+	2	477	c.105C>A	c.(103-105)GCC>GCA	p.A35A	C11orf10_uc001nsf.2_5'Flank|MIR611_hsa-mir-611|MI0003624_5'Flank	NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	35	N-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			ovary(1)	1						CCATTGATGCCTCTATGAGCA	0.532								Direct_reversal_of_damage|Editing_and_processing_nucleases				
GANAB	23193	broad.mit.edu	37	11	62406583	62406583	+	Splice_Site	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:62406583C>A	uc001nub.2	-	4	286	c.253_splice	c.e4-1	p.V85_splice	GANAB_uc001nua.2_Splice_Site_p.V85_splice|GANAB_uc001nuc.2_Splice_Site|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CCAGCAACACCTGCGGGGACA	0.522												
STIP1	10963	broad.mit.edu	37	11	63970612	63970612	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:63970612G>A	uc001nyk.1	+	12	1445	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	STIP1_uc010rnb.1_Missense_Mutation_p.R409Q	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	433	TPR 9.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						GGTTATACACGGAAAGCCGCT	0.557												
SLC25A45	283130	broad.mit.edu	37	11	65144459	65144459	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65144459C>T	uc001odp.1	-	5	850	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	SLC25A45_uc009yqi.1_Missense_Mutation_p.R81Q|SLC25A45_uc001odq.1_Missense_Mutation_p.R119Q|SLC25A45_uc001odr.1_Missense_Mutation_p.R143Q|SLC25A45_uc001ods.1_Missense_Mutation_p.R101Q|SLC25A45_uc001odt.1_Missense_Mutation_p.R101Q	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	143	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CCCCTGGTACCGGGGTGGGGG	0.667												
KCNK7	10089	broad.mit.edu	37	11	65360998	65360998	+	Missense_Mutation	SNP	C	C	T	rs78054727	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65360998C>T	uc001oes.2	-	2	891	c.667G>A	c.(667-669)GGC>AGC	p.G223S	KCNK7_uc001oeq.2_Missense_Mutation_p.G223S|KCNK7_uc001oer.2_Missense_Mutation_p.G223S|KCNK7_uc001oeu.2_Missense_Mutation_p.G223S	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	223						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						AGGCTGCGGCCGCGGCCGGGC	0.657												
MAP3K11	4296	broad.mit.edu	37	11	65375502	65375502	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65375502C>T	uc001oew.2	-	3	1453	c.960G>A	c.(958-960)GTG>GTA	p.V320V	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.V63V|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	320	Protein kinase.				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						CACGGTATGGCACCTCCCCGG	0.602												
EFEMP2	30008	broad.mit.edu	37	11	65637348	65637348	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65637348C>A	uc001ofy.3	-	7	901	c.707G>T	c.(706-708)CGG>CTG	p.R236L	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.R236L	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	236	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GAAGCCATCCCGATGCAGCTC	0.607												
SART1	9092	broad.mit.edu	37	11	65746365	65746365	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65746365C>A	uc001ogl.2	+	19	2456	c.2364C>A	c.(2362-2364)GGC>GGA	p.G788G		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	788					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						TGCTCAGCGGCAGCGGCAAGA	0.537												
SF3B2	10992	broad.mit.edu	37	11	65824848	65824848	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:65824848T>C	uc001ogy.1	+	7	817	c.777_splice	c.e7+2	p.E259_splice		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2						interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						AACAGAGAGGTGAGACTGATG	0.537												
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:66411054C>T	uc009yrj.2	+	3	1034	c.546C>T	c.(544-546)CGC>CGT	p.R182R	RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTCAGGCCGCGTGGCAGACT	0.557												
LRP5	4041	broad.mit.edu	37	11	68197061	68197061	+	Missense_Mutation	SNP	G	G	A	rs143924910		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:68197061G>A	uc001ont.2	+	17	3731	c.3656G>A	c.(3655-3657)CGT>CAT	p.R1219H	LRP5_uc009ysg.2_Missense_Mutation_p.R629H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1219	EGF-like 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCATGTGCCCGTGACAATGGT	0.582												
IGHMBP2	3508	broad.mit.edu	37	11	68704492	68704492	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:68704492C>T	uc001ook.1	+	13	2646	c.2544C>T	c.(2542-2544)CCC>CCT	p.P848P	IGHMBP2_uc001ool.1_Silent_p.P472P|IGHMBP2_uc001oom.1_Silent_p.P426P	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	848	Gln/Pro-rich.				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)			AGGGGCAGCCCGCCAGCAAGG	0.582												
INPPL1	3636	broad.mit.edu	37	11	71942235	71942235	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:71942235T>C	uc001osf.2	+	12	1644	c.1497_splice	c.e12+2	p.P499_splice	INPPL1_uc001osg.2_Splice_Site_p.P257_splice	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TACCGCCCGGTGAGGGGGGGT	0.602												
P2RY6	5031	broad.mit.edu	37	11	73008170	73008170	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:73008170C>T	uc001otm.2	+	4	1012	c.607C>T	c.(607-609)CTG>TTG	p.L203L	P2RY6_uc001otn.2_Silent_p.L203L|P2RY6_uc001oto.2_Silent_p.L203L|P2RY6_uc001otp.2_Silent_p.L203L|P2RY6_uc001otq.2_Silent_p.L203L|P2RY6_uc001otr.2_Silent_p.L203L|P2RY6_uc001ots.2_Silent_p.L203L	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	203	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						CGGCTTCCTGCTGCCCTTTGC	0.657												
MAP6	4135	broad.mit.edu	37	11	75298700	75298700	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:75298700C>T	uc001owu.2	-	4	1911	c.1846G>A	c.(1846-1848)GGT>AGT	p.G616S		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	616	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GGACCTTCACCCTTGACAGGT	0.542												
MAP6	4135	broad.mit.edu	37	11	75299206	75299206	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:75299206T>C	uc001owu.2	-	4	1405	c.1340A>G	c.(1339-1341)GAT>GGT	p.D447G		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	447						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CTTACTTGAATCACTGACGGG	0.522												
TMEM135	65084	broad.mit.edu	37	11	87029199	87029199	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:87029199T>C	uc001pch.2	+	13	1121	c.1098T>C	c.(1096-1098)ATT>ATC	p.I366I	TMEM135_uc010rtt.1_Silent_p.I227I|TMEM135_uc001pci.2_Silent_p.I344I	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	366						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAAAGGCATTGAAGCAGGGA	0.373												
TYR	7299	broad.mit.edu	37	11	88911703	88911703	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:88911703C>T	uc001pcs.2	+	1	664	c.582C>T	c.(580-582)ATC>ATT	p.I194I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	194	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GATCTGAAATCTGGAGAGACA	0.438									Oculocutaneous_Albinism			
DYNC2H1	79659	broad.mit.edu	37	11	103057190	103057190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:103057190C>T	uc001pho.2	+	42	6997	c.6853C>T	c.(6853-6855)CAG>TAG	p.Q2285*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.Q2285*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2285	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGATACTAAACAGCCCTTTAT	0.403												
DDI1	414301	broad.mit.edu	37	11	103908380	103908380	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:103908380A>C	uc001phr.2	+	1	1073	c.830A>C	c.(829-831)AAC>ACC	p.N277T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	277					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAGCGATGTAACATCATGAGG	0.502												
DLAT	1737	broad.mit.edu	37	11	111916693	111916693	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:111916693A>C	uc001pmo.2	+	10	2056	c.1397A>C	c.(1396-1398)AAG>ACG	p.K466T	DLAT_uc009yyk.1_Missense_Mutation_p.K361T|DLAT_uc010rwr.1_Missense_Mutation_p.K339T	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	466	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GAACTTAATAAGGTAAAAGTT	0.269												
UBE4A	9354	broad.mit.edu	37	11	118243291	118243291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118243291C>T	uc001psw.2	+	6	760	c.631C>T	c.(631-633)CGA>TGA	p.R211*	UBE4A_uc001psv.2_Nonsense_Mutation_p.R211*	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	211					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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;3.28e-05)		GTCCAATACCCGAACAGTTCT	0.463												
MLL	4297	broad.mit.edu	37	11	118376657	118376657	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118376657A>G	uc001pta.2	+	27	10064	c.10041A>G	c.(10039-10041)CAA>CAG	p.Q3347Q	MLL_uc001ptb.2_Silent_p.Q3350Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3347					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)		TATCCATGCAAACTACCACAA	0.488			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							
PHLDB1	23187	broad.mit.edu	37	11	118498177	118498177	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:118498177G>A	uc001ptr.1	+	7	991	c.638G>A	c.(637-639)GGC>GAC	p.G213D	PHLDB1_uc010ryh.1_Missense_Mutation_p.G212D|PHLDB1_uc001pts.2_Missense_Mutation_p.G213D|PHLDB1_uc001ptt.2_Missense_Mutation_p.G213D|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.G13D|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	213											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAGCTGCTGGCAAGAAGCCT	0.617												
TRIM29	23650	broad.mit.edu	37	11	120008663	120008663	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:120008663C>T	uc001pwz.2	-	1	201	c.77G>A	c.(76-78)AGT>AAT	p.S26N	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	26					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGCTGCCACTGGGGCCCGA	0.677												
GRIK4	2900	broad.mit.edu	37	11	120702712	120702712	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:120702712C>A	uc001pxn.2	+	7	950	c.663C>A	c.(661-663)GCC>GCA	p.A221A	GRIK4_uc009zav.1_Silent_p.A221A|GRIK4_uc009zaw.1_Silent_p.A221A|GRIK4_uc009zax.1_Silent_p.A221A	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	221	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACGCCAACGCCTCCATGTCCC	0.662												
SC5DL	6309	broad.mit.edu	37	11	121178116	121178116	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121178116G>A	uc001pxu.2	+	5	943	c.795G>A	c.(793-795)CCG>CCA	p.P265P	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Silent_p.P265P	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	265				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970).	fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GGAAGGGACCGCTCAGTTATG	0.408												
C11orf63	79864	broad.mit.edu	37	11	122774913	122774913	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:122774913C>T	uc001pym.2	+	3	922	c.625C>T	c.(625-627)CCG>TCG	p.P209S	C11orf63_uc001pyl.1_Missense_Mutation_p.P209S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	209										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCGCAGCAAGCCGTTTTCAGA	0.517												
SCN3B	55800	broad.mit.edu	37	11	123504900	123504900	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123504900G>A	uc001pza.1	-	6	1006	c.599C>T	c.(598-600)GCC>GTC	p.A200V	SCN3B_uc001pzb.1_Missense_Mutation_p.A200V	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	200	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGATGGGATGGCAAGGTAGTC	0.542												
OR4D5	219875	broad.mit.edu	37	11	123810680	123810680	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123810680G>A	uc001pzk.1	+	1	357	c.357G>A	c.(355-357)GCG>GCA	p.A119A		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTCATGGCGTATGACCGCT	0.522												
OR10S1	219873	broad.mit.edu	37	11	123847769	123847769	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:123847769C>A	uc001pzm.1	-	1	630	c.630G>T	c.(628-630)GAG>GAT	p.E210D		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCATGACTAGCTCATTAATGG	0.542												
OR8G2	26492	broad.mit.edu	37	11	124095694	124095694	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:124095694G>A	uc010saf.1	+	1	297	c.297G>A	c.(295-297)GTG>GTA	p.V99V		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	99						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGAACTTTGTGACAGAGAAGA	0.443												
RPUSD4	84881	broad.mit.edu	37	11	126073382	126073382	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:126073382G>A	uc001qde.2	-	7	1119	c.1065C>T	c.(1063-1065)CGC>CGT	p.R355R	RPUSD4_uc010sbl.1_Silent_p.R162R|RPUSD4_uc009zbz.2_Silent_p.R324R|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	355					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|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;0.0761)		CTAAACGCAGGCGGTGCAGGG	0.567												
KCNA1	3736	broad.mit.edu	37	12	5021148	5021148	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:5021148G>A	uc001qnh.2	+	2	1709	c.604G>A	c.(604-606)GTC>ATC	p.V202I		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	202					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACGGGCACCGTCCACCGCAT	0.532												
MRPL51	51258	broad.mit.edu	37	12	6602121	6602121	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:6602121C>A	uc001qom.2	-	2	266	c.97G>T	c.(97-99)GGT>TGT	p.G33C	MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51 precursor	33					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome				0						AGCCTTATACCGATCAATCTA	0.522												
CHD4	1108	broad.mit.edu	37	12	6692236	6692236	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:6692236C>A	uc001qpo.2	-	27	4268	c.4104G>T	c.(4102-4104)GTG>GTT	p.V1368V	CHD4_uc001qpn.2_Silent_p.V1361V|CHD4_uc001qpp.2_Silent_p.V1393V|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1368					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTCTGAAGCCACTGAGTAAT	0.502												
ATN1	1822	broad.mit.edu	37	12	7046278	7046278	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7046278G>A	uc001qrw.1	+	5	2085	c.1848G>A	c.(1846-1848)ACG>ACA	p.T616T	ATN1_uc001qrx.1_Silent_p.T616T	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	616					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CCCTTTCCACGGTCATTGCCA	0.667												
C1S	716	broad.mit.edu	37	12	7173936	7173936	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7173936A>G	uc001qsj.2	+	11	1705	c.986A>G	c.(985-987)GAG>GGG	p.E329G	C1S_uc001qsk.2_Missense_Mutation_p.E329G|C1S_uc001qsl.2_Missense_Mutation_p.E329G|C1S_uc009zfr.2_Missense_Mutation_p.E162G|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	329	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAGTTGTGGAGGTAAAGTAC	0.478												
CD163	9332	broad.mit.edu	37	12	7649572	7649572	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:7649572G>A	uc001qsz.3	-	5	1064	c.936C>T	c.(934-936)GCC>GCT	p.A312A	CD163_uc001qta.3_Silent_p.A312A|CD163_uc009zfw.2_Silent_p.A312A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	312	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGGCTGTGACGGCAGTTGGAC	0.507												
C3AR1	719	broad.mit.edu	37	12	8212287	8212287	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8212287A>G	uc001qtv.1	-	2	587	c.495T>C	c.(493-495)ACT>ACC	p.T165T		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	165	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		GGTTGTCTGTAGTGAAGATTT	0.433												
RIMKLB	57494	broad.mit.edu	37	12	8902584	8902584	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8902584G>A	uc001quu.2	+	3	553	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.R101Q|RIMKLB_uc010sgl.1_Missense_Mutation_p.R101Q|RIMKLB_uc001quw.2_Missense_Mutation_p.R101Q	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	101					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						ATGGGATGTCGGTTAATGAAC	0.488												
RIMKLB	57494	broad.mit.edu	37	12	8926159	8926159	+	Missense_Mutation	SNP	C	C	T	rs34259191		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:8926159C>T	uc001quu.2	+	6	1191	c.940C>T	c.(940-942)CGG>TGG	p.R314W	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.R314W|RIMKLB_uc010sgl.1_Missense_Mutation_p.R314W|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	314					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CCGGCTCACCCGGCGTATGTC	0.552												
A2M	2	broad.mit.edu	37	12	9246162	9246162	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:9246162C>T	uc001qvk.1	-	18	2252	c.2139G>A	c.(2137-2139)ATG>ATA	p.M713I	A2M_uc009zgk.1_Missense_Mutation_p.M563I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTTCCCATTACATCTG	0.428												
LOH12CR1	118426	broad.mit.edu	37	12	12618589	12618589	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:12618589G>A	uc001ral.2	+	4	836	c.470G>A	c.(469-471)CGC>CAC	p.R157H	LOH12CR1_uc009zhu.2_Missense_Mutation_p.R109H	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	157										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		GCCATCCTCCGCCGCATACAG	0.582												
EPS8	2059	broad.mit.edu	37	12	15776135	15776135	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:15776135G>A	uc009zif.2	-	20	2406	c.2312C>T	c.(2311-2313)GCG>GTG	p.A771V	EPS8_uc001rdb.2_Missense_Mutation_p.A771V|EPS8_uc009zig.2_Missense_Mutation_p.A511V|EPS8_uc010shv.1_Missense_Mutation_p.A511V	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	771					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ATAGACTCTCGCCCCTTCAGG	0.398												
ABCC9	10060	broad.mit.edu	37	12	22005084	22005084	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:22005084G>T	uc001rfi.1	-	22	2736	c.2716C>A	c.(2716-2718)CTT>ATT	p.L906I	ABCC9_uc001rfh.2_Missense_Mutation_p.L906I|ABCC9_uc001rfj.1_Missense_Mutation_p.L870I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	906	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTTCATAAAGCTCAACATCT	0.388												
ST8SIA1	6489	broad.mit.edu	37	12	22354742	22354742	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:22354742C>T	uc001rfo.3	-	5	1297	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ST8SIA1_uc009zix.2_Missense_Mutation_p.R129H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	272	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TGTGGACAGGCGCTTGGCATG	0.507												
SOX5	6660	broad.mit.edu	37	12	23757415	23757415	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:23757415A>C	uc001rfw.2	-	9	1172	c.1070T>G	c.(1069-1071)CTG>CGG	p.L357R	SOX5_uc001rfx.2_Missense_Mutation_p.L344R|SOX5_uc001rfy.2_Missense_Mutation_p.L344R|SOX5_uc010siv.1_Missense_Mutation_p.L344R|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.L309R	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	357					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TATGCCTGGCAGCTTCCCTCC	0.493												
TM7SF3	51768	broad.mit.edu	37	12	27156306	27156306	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:27156306C>T	uc010sjl.1	-	2	347	c.109G>A	c.(109-111)GTG>ATG	p.V37M		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	37						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					AATTTCCCCACAGAAAATTCA	0.323												
GXYLT1	283464	broad.mit.edu	37	12	42499688	42499688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:42499688C>A	uc001rms.3	-	5	1021	c.796G>T	c.(796-798)GGA>TGA	p.G266*	GXYLT1_uc001rmt.3_Nonsense_Mutation_p.G235*	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	266	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CCAGTTTTTCCATAATATGGA	0.368												
IRAK4	51135	broad.mit.edu	37	12	44177520	44177520	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:44177520A>C	uc001rnu.3	+	11	1311	c.1181A>C	c.(1180-1182)CAG>CCG	p.Q394P	IRAK4_uc001rnt.3_Missense_Mutation_p.Q394P|IRAK4_uc001rnx.3_Missense_Mutation_p.Q270P|IRAK4_uc001rny.3_Missense_Mutation_p.Q270P|IRAK4_uc010sky.1_Missense_Mutation_p.Q270P|IRAK4_uc001rnv.3_Missense_Mutation_p.Q270P|IRAK4_uc001rnw.3_Missense_Mutation_p.Q270P	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	394	Protein kinase.				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|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CGTGAACCTCAGTTATTGGTA	0.269												
NELL2	4753	broad.mit.edu	37	12	45173737	45173737	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:45173737C>T	uc001rog.2	-	4	999	c.404G>A	c.(403-405)CGC>CAC	p.R135H	NELL2_uc001rof.3_Missense_Mutation_p.R134H|NELL2_uc001roh.2_Missense_Mutation_p.R135H|NELL2_uc009zkd.2_Missense_Mutation_p.R134H|NELL2_uc010skz.1_Missense_Mutation_p.R185H|NELL2_uc010sla.1_Missense_Mutation_p.R158H|NELL2_uc001roi.1_Missense_Mutation_p.R135H|NELL2_uc010slb.1_Missense_Mutation_p.R134H|NELL2_uc001roj.2_Missense_Mutation_p.R135H	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	135	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTGTGAGGGCGGTGACTGCC	0.488												
COL2A1	1280	broad.mit.edu	37	12	48367873	48367873	+	Missense_Mutation	SNP	G	G	A	rs121912886		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:48367873G>A	uc001rqu.2	-	53	4497	c.4316C>T	c.(4315-4317)ACG>ATG	p.T1439M	COL2A1_uc001rqt.2_Missense_Mutation_p.T220M|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1370M	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1439	Fibrillar collagen NC1.		T -> M (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617												
OR8S1	341568	broad.mit.edu	37	12	48921795	48921795	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:48921795G>A	uc010slu.1	+	2	989	c.989G>A	c.(988-990)GGA>GAA	p.G330E		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	330	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGGGAGCCCGGACACCCGGAG	0.677												
CCNT1	904	broad.mit.edu	37	12	49110337	49110337	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49110337G>A	uc001rse.1	-	1	445	c.122C>T	c.(121-123)GCG>GTG	p.A41V	CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	41					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						CAGATTGGCCGCCTGCTGGCG	0.552											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADCY6	112	broad.mit.edu	37	12	49170889	49170889	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49170889G>A	uc001rsh.3	-	5	2034	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	ADCY6_uc001rsj.3_Silent_p.I458I|ADCY6_uc001rsi.3_Silent_p.I458I|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	458	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						CTGCTTACGAGATGGCCTCAA	0.567												
MLL2	8085	broad.mit.edu	37	12	49445987	49445987	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49445987G>A	uc001rta.3	-	10	1479	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	493	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|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						GCGGAGAGAGGGGCGATTCCT	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
PRPF40B	25766	broad.mit.edu	37	12	50036136	50036136	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:50036136T>C	uc001rur.1	+	19	2001	c.1937T>C	c.(1936-1938)CTA>CCA	p.L646P	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.L668P|PRPF40B_uc001ruq.1_Missense_Mutation_p.L633P|PRPF40B_uc001rus.1_Missense_Mutation_p.L589P|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	646					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						GCTCTGGAGCTAGGCACTGCC	0.667												
LASS5	91012	broad.mit.edu	37	12	50528418	50528418	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:50528418T>C	uc001rwd.3	-	9	957	c.940A>G	c.(940-942)AAT>GAT	p.N314D	LASS5_uc001rwc.2_Missense_Mutation_p.N233D|LASS5_uc001rwe.3_Missense_Mutation_p.N255D|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_Missense_Mutation_p.N170D	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	314	TLC.|Helical; (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						AGCAGGCCATTGAGGAGCCAC	0.493												
METTL7A	25840	broad.mit.edu	37	12	51319130	51319130	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:51319130T>C	uc001rxb.2	+	1	597	c.309T>C	c.(307-309)TTT>TTC	p.F103F	METTL7A_uc010smv.1_Intron	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	103						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						ACCCCAACTTTGAGAAGTTTT	0.557												
DAZAP2	9802	broad.mit.edu	37	12	51634178	51634178	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:51634178T>C	uc010snd.1	+	2	249	c.65T>C	c.(64-66)GTA>GCA	p.V22A	DAZAP2_uc001ryb.2_Missense_Mutation_p.V22A|DAZAP2_uc010snc.1_Missense_Mutation_p.V22A|DAZAP2_uc010sne.1_Missense_Mutation_p.V22A|DAZAP2_uc010snf.1_Missense_Mutation_p.V22A	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	22	Pro-rich.						WW domain binding				0						GGGAATCCAGTATACCCTCAG	0.498												
KRT7	3855	broad.mit.edu	37	12	52639292	52639292	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:52639292C>A	uc001saa.1	+	7	1208	c.1081C>A	c.(1081-1083)CTG>ATG	p.L361M	KRT7_uc009zmf.1_Intron	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	361	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		GGAAGCCGCCCTGCAGCGGGG	0.642												
KRT72	140807	broad.mit.edu	37	12	52979783	52979783	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:52979783T>G	uc001sar.2	-	9	1605	c.1519A>C	c.(1519-1521)AAA>CAA	p.K507Q	KRT72_uc001saq.2_Missense_Mutation_p.K507Q|KRT72_uc010sns.1_Missense_Mutation_p.K465Q|KRT72_uc010snt.1_Missense_Mutation_p.K319Q	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	507	Tail.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		GAGGCCTTTTTGGTGGCACAG	0.567												
ESPL1	9700	broad.mit.edu	37	12	53671679	53671679	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53671679C>T	uc001sck.2	+	11	2390	c.2299C>T	c.(2299-2301)CGG>TGG	p.R767W	ESPL1_uc001scj.2_Missense_Mutation_p.R442W|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	767					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						CCCAGCTGTACGGTGTCTCCA	0.572												
ESPL1	9700	broad.mit.edu	37	12	53680370	53680370	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53680370A>G	uc001sck.2	+	18	3941	c.3850A>G	c.(3850-3852)ACT>GCT	p.T1284A	ESPL1_uc001scj.2_Missense_Mutation_p.T959A|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1284					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						CAGCTGCTGTACTACCCAACT	0.547												
ESPL1	9700	broad.mit.edu	37	12	53683934	53683934	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53683934C>T	uc001sck.2	+	23	5270	c.5179C>T	c.(5179-5181)CTG>TTG	p.L1727L	ESPL1_uc001scj.2_Silent_p.L1402L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1727					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						CACCCTCCTGCTGACCCGGCT	0.597												
DGKA	1606	broad.mit.edu	37	12	56347164	56347164	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56347164C>T	uc001sij.2	+	23	2358	c.2094C>T	c.(2092-2094)GAC>GAT	p.D698D	DGKA_uc001sik.2_Silent_p.D698D|DGKA_uc001sil.2_Silent_p.D698D|DGKA_uc001sim.2_Silent_p.D698D|DGKA_uc001sin.2_Silent_p.D698D|DGKA_uc009zof.2_Silent_p.D344D|DGKA_uc001sio.2_Silent_p.D440D	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	698					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TGCAAATTGACGGAGAACCCT	0.473												
CDK2	1017	broad.mit.edu	37	12	56362617	56362617	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56362617T>C	uc001sit.3	+	4	608	c.371T>C	c.(370-372)CTC>CCC	p.L124P	CDK2_uc001siu.3_Missense_Mutation_p.L124P|CDK2_uc010spy.1_Missense_Mutation_p.L98P	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	124	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CATCGGGTCCTCCACCGAGAC	0.502												
TIMELESS	8914	broad.mit.edu	37	12	56827603	56827603	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56827603G>T	uc001slf.2	-	3	373	c.205C>A	c.(205-207)CTC>ATC	p.L69I	TIMELESS_uc001slg.2_Missense_Mutation_p.L69I	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	69					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TGCTGGGTGAGGATGGGCAGA	0.547												
BAZ2A	11176	broad.mit.edu	37	12	57000083	57000083	+	Missense_Mutation	SNP	C	C	T	rs139817454	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57000083C>T	uc001slq.1	-	12	2407	c.2213G>A	c.(2212-2214)CGG>CAG	p.R738Q	BAZ2A_uc001slp.1_Missense_Mutation_p.R736Q|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R706Q	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	738	Lys-rich.|Potential.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						CTCTTGTTTCCGCTTATTTCT	0.428												
NACA	4666	broad.mit.edu	37	12	57106630	57106630	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57106630C>A	uc001slz.2	-	7	922	c.573G>T	c.(571-573)TCG>TCT	p.S191S	NACA_uc001sly.2_Silent_p.S191S|NACA_uc009zoy.1_Silent_p.S2054S|NACA_uc001smc.2_Silent_p.S191S|NACA_uc001sma.2_Silent_p.S901S|NACA_uc001smb.2_Silent_p.S191S|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	191	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						CCTTTGCTCTCGACACATTTG	0.428			T	BCL6	NHL							
LRP1	4035	broad.mit.edu	37	12	57566979	57566979	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57566979T>C	uc001snd.2	+	21	3658	c.3192T>C	c.(3190-3192)ACT>ACC	p.T1064T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1064	Extracellular (Potential).|LDL-receptor class A 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCCACACTGATGAGTTCC	0.652											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
R3HDM2	22864	broad.mit.edu	37	12	57652728	57652728	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:57652728A>G	uc009zpm.1	-	18	2239	c.2204T>C	c.(2203-2205)ATG>ACG	p.M735T	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.M430T|R3HDM2_uc001snr.2_Missense_Mutation_p.M462T|R3HDM2_uc001sns.2_Missense_Mutation_p.M735T|R3HDM2_uc001snt.2_Missense_Mutation_p.M749T|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	735						nucleus	nucleic acid binding			ovary(2)	2						CCGCTGGTCCATGCTGTAGTA	0.567												
OS9	10956	broad.mit.edu	37	12	58114666	58114666	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:58114666G>A	uc001spj.2	+	15	2037	c.1978G>A	c.(1978-1980)GGG>AGG	p.G660R	OS9_uc010srx.1_Missense_Mutation_p.G399R|OS9_uc001spk.2_Missense_Mutation_p.G645R|OS9_uc001spl.2_Missense_Mutation_p.G605R|OS9_uc001spm.2_Missense_Mutation_p.G590R|OS9_uc001spn.2_Missense_Mutation_p.G606R|OS9_uc010sry.1_Missense_Mutation_p.G573R|OS9_uc010srz.1_Missense_Mutation_p.G531R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	660					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGCACAGGGGACCTGGA	0.612												
USP15	9958	broad.mit.edu	37	12	62786960	62786960	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62786960A>G	uc001src.1	+	19	2557	c.2548A>G	c.(2548-2550)ACC>GCC	p.T850A	USP15_uc001srb.1_Missense_Mutation_p.T821A	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	850					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAAGTTGGATACCTTAGTTGA	0.343												
MON2	23041	broad.mit.edu	37	12	62861070	62861070	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62861070G>A	uc001sre.2	+	1	474	c.83G>A	c.(82-84)TGC>TAC	p.C28Y	MON2_uc009zqj.2_Missense_Mutation_p.C28Y|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Missense_Mutation_p.C28Y|MON2_uc010ssn.1_Missense_Mutation_p.C28Y|MON2_uc001srd.1_Missense_Mutation_p.C28Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	28					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCACTGGAGTGCAAGAAGAAA	0.567												
SRGAP1	57522	broad.mit.edu	37	12	64456869	64456869	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:64456869C>T	uc010ssp.1	+	7	1030	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SRGAP1_uc001srt.2_Missense_Mutation_p.A325V|SRGAP1_uc001srv.2_Missense_Mutation_p.A285V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	325					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TACCCTGCTGCGTTCTGTCCA	0.393												
C12orf56	115749	broad.mit.edu	37	12	64678530	64678530	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:64678530T>C	uc001ssa.3	-	6	744	c.744A>G	c.(742-744)GCA>GCG	p.A248A	uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	411											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTTCAATGCATGCCCTAGAAA	0.368												
BBS10	79738	broad.mit.edu	37	12	76741004	76741004	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:76741004T>C	uc001syd.1	-	2	845	c.761A>G	c.(760-762)GAC>GGC	p.D254G		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	254					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CATTCGCATGTCACCATCTGC	0.423									Bardet-Biedl_syndrome			
CSRP2	1466	broad.mit.edu	37	12	77252786	77252786	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:77252786C>T	uc001syl.1	-	6	611	c.528G>A	c.(526-528)GGG>GGA	p.G176G		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	176	Gly-rich.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						ATCCCTTGGGCCCAAAGTTCT	0.453												
NAV3	89795	broad.mit.edu	37	12	78582508	78582508	+	Silent	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:78582508T>A	uc001syp.2	+	33	6179	c.6006T>A	c.(6004-6006)CCT>CCA	p.P2002P	NAV3_uc001syo.2_Silent_p.P1980P|NAV3_uc010sub.1_Silent_p.P1459P|NAV3_uc009zsf.2_Silent_p.P811P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2002						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AATTGCTGCCTTGTGGATACC	0.383										HNSCC(70;0.22)		
MYF6	4618	broad.mit.edu	37	12	81101622	81101622	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:81101622T>C	uc001szf.1	+	1	177	c.124T>C	c.(124-126)TCC>CCC	p.S42P		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	42					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						TGGTACCTTGTCCCCCTGCCA	0.597												
PPFIA2	8499	broad.mit.edu	37	12	81769649	81769649	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:81769649C>T	uc001szo.1	-	10	1218	c.1057G>A	c.(1057-1059)GAA>AAA	p.E353K	PPFIA2_uc010sue.1_Missense_Mutation_p.E253K|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	279										ovary(3)|lung(2)|pancreas(1)	6						GAGGTAGATTCTCTCTGAGCA	0.368												
LRRIQ1	84125	broad.mit.edu	37	12	85441250	85441250	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:85441250T>C	uc001tac.2	+	6	789	c.678_splice	c.e6+2	p.K226_splice	LRRIQ1_uc001tab.1_Splice_Site_p.K226_splice|LRRIQ1_uc001taa.1_Splice_Site_p.K226_splice|LRRIQ1_uc001tad.2_Missense_Mutation_p.V135A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATTCAGAAGGTATTTTGCTTT	0.294												
TMPO	7112	broad.mit.edu	37	12	98921765	98921765	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:98921765C>T	uc001tfj.2	+	2	618	c.381C>T	c.(379-381)TAC>TAT	p.Y127Y	TMPO_uc001tfi.1_Silent_p.Y127Y|TMPO_uc001tfk.2_Silent_p.Y127Y|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Silent_p.Y127Y	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	127	Nucleoplasmic (Potential).|LEM.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.Y127H(1)		ovary(2)	2						TTGTGAAATACGGAGTGAATC	0.348												
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TCHP	84260	broad.mit.edu	37	12	110353251	110353251	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:110353251A>C	uc001tpn.2	+	12	1517	c.1364A>C	c.(1363-1365)GAG>GCG	p.E455A	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E455A	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	455	Glu-rich.|Potential.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						GACCAGCaggaggaggaggaa	0.577												
ACAD10	80724	broad.mit.edu	37	12	112185160	112185160	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:112185160T>C	uc001tsq.2	+	16	2656	c.2456T>C	c.(2455-2457)GTC>GCC	p.V819A	ACAD10_uc001tsp.2_Missense_Mutation_p.V819A|ACAD10_uc009zvx.2_Missense_Mutation_p.V850A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	819							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AGCTTCTATGTCATAAACGGT	0.498												
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	rs121918457		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:112926270C>T	uc001ttx.2	+	12	1783	c.1403C>T	c.(1402-1404)ACG>ATG	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	472	Tyrosine-protein phosphatase.		T -> M (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGACAGGGACGTTCATTGTG	0.443			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome			
DTX1	1840	broad.mit.edu	37	12	113515274	113515274	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:113515274C>T	uc001tuk.1	+	2	641	c.305C>T	c.(304-306)GCG>GTG	p.A102V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	102	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCGTCGTCGGCGCCGGGCAAG	0.652												
RNFT2	84900	broad.mit.edu	37	12	117204721	117204721	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:117204721T>C	uc009zwn.2	+	6	961	c.728_splice	c.e6+2	p.S243_splice	RNFT2_uc001twb.3_Splice_Site_p.S243_splice|RNFT2_uc001twa.3_Splice_Site_p.S153_splice|RNFT2_uc001twc.3_Splice_Site	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1							integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GTACAACAGGTGAGCATGGGA	0.552												
RNF34	80196	broad.mit.edu	37	12	121858580	121858580	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:121858580C>A	uc001ual.1	+	5	1041	c.927C>A	c.(925-927)TCC>TCA	p.S309S	RNF34_uc001uak.1_Silent_p.S310S|RNF34_uc001uam.1_Silent_p.S309S	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	309					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ACCAAAAGTCCTGTAGGTTTA	0.328												
LRRC43	254050	broad.mit.edu	37	12	122684857	122684857	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:122684857G>A	uc009zxm.2	+	8	1496	c.1471G>A	c.(1471-1473)GTG>ATG	p.V491M	LRRC43_uc001ubw.3_Missense_Mutation_p.V306M|LRRC43_uc009zxn.2_Missense_Mutation_p.V252M	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	491											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGGGACCACCGTGACCATCGT	0.642												
KNTC1	9735	broad.mit.edu	37	12	123105091	123105091	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:123105091C>T	uc001ucv.2	+	60	6378	c.6215C>T	c.(6214-6216)CCG>CTG	p.P2072L	KNTC1_uc010taf.1_Missense_Mutation_p.P997L|GPR81_uc001ucw.1_RNA	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	2072					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAGAACTTCCGGCTTTTGCA	0.458												
GPR81	27198	broad.mit.edu	37	12	123214587	123214587	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:123214587G>A	uc001ucz.2	-	1	543	c.300C>T	c.(298-300)GCC>GCT	p.A100A	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	100	Helical; Name=3; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGATGCTCCCGGCCCTGTTCA	0.597												
NCOR2	9612	broad.mit.edu	37	12	124821440	124821440	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:124821440C>T	uc010tay.1	-	40	6160	c.6004G>A	c.(6004-6006)GCC>ACC	p.A2002T	NCOR2_uc010taz.1_Missense_Mutation_p.A1986T|NCOR2_uc010tax.1_Missense_Mutation_p.A113T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2003					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)		GGGGTGCGGGCGATGGTGGCG	0.736												
DHX37	57647	broad.mit.edu	37	12	125432653	125432653	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:125432653G>A	uc001ugy.2	-	26	3464	c.3365C>T	c.(3364-3366)GCT>GTT	p.A1122V	DHX37_uc001ugz.1_Missense_Mutation_p.A209V	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1122							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTTCCAAGCAGCCAGCAAGGC	0.597												
FZD10	11211	broad.mit.edu	37	12	130648814	130648814	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:130648814C>T	uc001uii.2	+	1	1783	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	443	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCTCATGGTGCGTATCGGGCT	0.582												
GPR133	283383	broad.mit.edu	37	12	131490544	131490544	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:131490544A>G	uc001uit.3	+	12	1842	c.1283A>G	c.(1282-1284)TAC>TGC	p.Y428C	GPR133_uc010tbm.1_Missense_Mutation_p.Y460C	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	428	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTCTGCTGTACCACAGCATG	0.632												
EP400	57634	broad.mit.edu	37	12	132472386	132472386	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132472386C>A	uc001ujn.2	+	6	2395	c.2360C>A	c.(2359-2361)GCC>GAC	p.A787D	EP400_uc001ujl.2_Missense_Mutation_p.A786D|EP400_uc001ujm.2_Missense_Mutation_p.A787D|EP400_uc001ujj.1_Missense_Mutation_p.A750D|EP400_uc001ujk.2_Missense_Mutation_p.A823D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	823	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTGGATGGCCACAGACTTT	0.617												
EP400	57634	broad.mit.edu	37	12	132490715	132490715	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132490715G>A	uc001ujn.2	+	13	3029	c.2994G>A	c.(2992-2994)TCG>TCA	p.S998S	EP400_uc001ujl.2_Silent_p.S997S|EP400_uc001ujm.2_Silent_p.S998S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1034	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCATCGACTCGCTTTTCATCA	0.522												
DDX51	317781	broad.mit.edu	37	12	132625272	132625272	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:132625272G>A	uc001ujy.3	-	10	1488	c.1449C>T	c.(1447-1449)TAC>TAT	p.Y483Y		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	483					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGCAGGGCACGTAGTGGTGCT	0.627												
SKA3	221150	broad.mit.edu	37	13	21742240	21742240	+	Missense_Mutation	SNP	C	C	A	rs147994613		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:21742240C>A	uc001unt.2	-	4	724	c.630G>T	c.(628-630)ATG>ATT	p.M210I	SKA3_uc001unv.2_Missense_Mutation_p.M128I|SKA3_uc001unu.2_Missense_Mutation_p.M210I	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	210					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						CAAAATCATCCATTTTTAGTG	0.343												
SACS	26278	broad.mit.edu	37	13	23913780	23913780	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:23913780A>G	uc001uon.2	-	10	4824	c.4235T>C	c.(4234-4236)CTT>CCT	p.L1412P	SACS_uc001uoo.2_Missense_Mutation_p.L1265P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1412					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)		AGAATCTTCAAGTAAGTCATT	0.358												
RNF17	56163	broad.mit.edu	37	13	25370393	25370393	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:25370393T>C	uc001upr.2	+	11	1400	c.1359T>C	c.(1357-1359)AAT>AAC	p.N453N	RNF17_uc010tdd.1_Silent_p.N312N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.N453N|RNF17_uc001ups.2_Silent_p.N392N|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	453					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTTTGCAATAGGAGTTCAC	0.308												
POLR1D	51082	broad.mit.edu	37	13	28240022	28240022	+	Missense_Mutation	SNP	G	G	A	rs141669019		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:28240022G>A	uc001urp.2	+	3	419	c.301G>A	c.(301-303)GCC>ACC	p.A101T	POLR1D_uc010aam.2_Missense_Mutation_p.A73T|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		TCGAGGTTCCGCCAGTTACTC	0.612												
USPL1	10208	broad.mit.edu	37	13	31232078	31232078	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:31232078A>C	uc001utc.2	+	9	2296	c.1864A>C	c.(1864-1866)ACC>CCC	p.T622P	USPL1_uc001utd.2_Missense_Mutation_p.T293P|USPL1_uc001ute.1_Missense_Mutation_p.T293P	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	622					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AATTCTCAAAACCAATACTTT	0.348												
CSNK1A1L	122011	broad.mit.edu	37	13	37679304	37679304	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:37679304G>A	uc001uwm.1	-	1	498	c.90C>T	c.(88-90)GAC>GAT	p.D30D		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	ATP (By similarity).|Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGATAAACGTCTCCAAAGG	0.537												
C13orf23	80209	broad.mit.edu	37	13	39585610	39585610	+	Silent	SNP	C	C	A	rs138416326		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39585610C>A	uc001uwy.2	-	13	3600	c.2727G>T	c.(2725-2727)TCG>TCT	p.S909S	C13orf23_uc001uwz.2_Silent_p.S887S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	909										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TTTCCAGAGCCGAAGCTGAAT	0.507												
C13orf23	80209	broad.mit.edu	37	13	39608303	39608303	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39608303T>C	uc001uwy.2	-	2	949	c.76A>G	c.(76-78)ATT>GTT	p.I26V	C13orf23_uc001uwz.2_Intron	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	26										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		ACATATTCAATTGCTTTTAAT	0.303												
NHLRC3	387921	broad.mit.edu	37	13	39613801	39613801	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:39613801C>T	uc001uxc.2	+	3	660	c.338C>T	c.(337-339)GCC>GTC	p.A113V	C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Missense_Mutation_p.A113V|NHLRC3_uc001uxb.1_Missense_Mutation_p.A113V|NHLRC3_uc001uxd.2_Missense_Mutation_p.A113V|NHLRC3_uc001uxe.2_5'UTR	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	113						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATATTTGCAGCCAGTACTCTA	0.383												
TSC22D1	8848	broad.mit.edu	37	13	45148680	45148680	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:45148680C>T	uc001uzn.3	-	1	2022	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	TSC22D1_uc001uzo.1_Missense_Mutation_p.A511T	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	511	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCTTGGAGAGCTGgttgttgc	0.398												
RB1	5925	broad.mit.edu	37	13	49039361	49039361	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:49039361A>G	uc001vcb.2	+	23	2512	c.2346A>G	c.(2344-2346)ATA>ATG	p.I782M		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	782	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.I782fs*28(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCACCAATACCTCACATTC	0.378		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
RCBTB2	1102	broad.mit.edu	37	13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:49084844C>T	uc001vch.2	-	10	1218	c.847G>A	c.(847-849)GCC>ACC	p.A283T	RCBTB2_uc010tgg.1_Missense_Mutation_p.A288T|RCBTB2_uc001vci.2_Missense_Mutation_p.A259T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	283	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473												
THSD1	55901	broad.mit.edu	37	13	52952823	52952823	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:52952823T>C	uc001vgo.2	-	5	1827	c.1282A>G	c.(1282-1284)ATT>GTT	p.I428V	THSD1_uc001vgp.2_Missense_Mutation_p.I375V|THSD1_uc010tgz.1_Missense_Mutation_p.I49V|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	428	Helical; (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACAGTGGCAATGATGATGAAC	0.562												
PCDH17	27253	broad.mit.edu	37	13	58208600	58208600	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:58208600G>A	uc001vhq.1	+	1	2812	c.1920G>A	c.(1918-1920)CCG>CCA	p.P640P	PCDH17_uc010aec.1_Silent_p.P640P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	640	Extracellular (Potential).|Cadherin 6.				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)		AGATCGACCCGTCCAGCGGCG	0.647												
PCDH9	5101	broad.mit.edu	37	13	67800109	67800109	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:67800109C>T	uc001vik.2	-	2	3156	c.2464G>A	c.(2464-2466)GGT>AGT	p.G822S	PCDH9_uc001vil.2_Missense_Mutation_p.G822S|PCDH9_uc010thl.1_Missense_Mutation_p.G822S|PCDH9_uc001vin.3_Missense_Mutation_p.G822S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	822	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCATGGCACCGGCGATGATG	0.527												
PCDH9	5101	broad.mit.edu	37	13	67801921	67801921	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:67801921A>G	uc001vik.2	-	2	1344	c.652T>C	c.(652-654)TAT>CAT	p.Y218H	PCDH9_uc001vil.2_Missense_Mutation_p.Y218H|PCDH9_uc010thl.1_Missense_Mutation_p.Y218H|PCDH9_uc001vin.3_Missense_Mutation_p.Y218H	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCATCACATAGGTATCTTTC	0.448												
SLITRK5	26050	broad.mit.edu	37	13	88329745	88329745	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88329745G>A	uc001vln.2	+	2	2321	c.2102G>A	c.(2101-2103)AGC>AAC	p.S701N	SLITRK5_uc010tic.1_Missense_Mutation_p.S460N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	701	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCACACCAGCACCAACAAC	0.632												
SLITRK5	26050	broad.mit.edu	37	13	88330384	88330384	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88330384C>T	uc001vln.2	+	2	2960	c.2741C>T	c.(2740-2742)CCG>CTG	p.P914L	SLITRK5_uc010tic.1_Missense_Mutation_p.P673L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	914	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTACGGGAACCGGTGCTCTAC	0.567												
SLITRK5	26050	broad.mit.edu	37	13	88330402	88330402	+	Missense_Mutation	SNP	C	C	T	rs139601648		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:88330402C>T	uc001vln.2	+	2	2978	c.2759C>T	c.(2758-2760)CCG>CTG	p.P920L	SLITRK5_uc010tic.1_Missense_Mutation_p.P679L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	920	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACAGCCCCCCGAGTGCTGTC	0.542												
GPC6	10082	broad.mit.edu	37	13	94938667	94938667	+	Silent	SNP	G	G	A	rs138238361		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:94938667G>A	uc001vlt.2	+	5	1574	c.942G>A	c.(940-942)CCG>CCA	p.P314P	GPC6_uc010tig.1_Silent_p.P314P	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	314						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCATGGACCCGATAGATGTCA	0.418												
FARP1	10160	broad.mit.edu	37	13	99047705	99047705	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:99047705A>G	uc001vnj.2	+	13	1725	c.1389A>G	c.(1387-1389)AAA>AAG	p.K463K	FARP1_uc001vnh.2_Silent_p.K463K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	463					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCAGAGTAAACCTCAGCCCC	0.612												
NALCN	259232	broad.mit.edu	37	13	101733934	101733934	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:101733934C>T	uc001vox.1	-	34	4018	c.3829G>A	c.(3829-3831)GAT>AAT	p.D1277N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1277	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAGGAGATCGTATCGGTTT	0.448												
MYO16	23026	broad.mit.edu	37	13	109496835	109496835	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:109496835C>T	uc001vqt.1	+	10	1302	c.1176C>T	c.(1174-1176)CCC>CCT	p.P392P	MYO16_uc010agk.1_Silent_p.P414P|MYO16_uc001vqu.1_Silent_p.P192P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	392					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACCAAACCCGAGCAGGTAA	0.388												
MYO16	23026	broad.mit.edu	37	13	109535430	109535430	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:109535430C>A	uc001vqt.1	+	13	1509	c.1383C>A	c.(1381-1383)TCC>TCA	p.S461S	MYO16_uc010agk.1_Silent_p.S483S|MYO16_uc001vqu.1_Silent_p.S261S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	461	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTCAGCTCCTCAGGGAAGC	0.547												
CUL4A	8451	broad.mit.edu	37	13	113909114	113909114	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:113909114T>C	uc010tjy.1	+	18	1869	c.1858_splice	c.e18+2	p.E620_splice	CUL4A_uc010tjx.1_Splice_Site_p.E520_splice|CUL4A_uc010agu.2_Splice_Site_p.E481_splice|CUL4A_uc010tjz.1_Splice_Site_p.E299_splice	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1						cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	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;0.112)			CGGGGATAGGTACGAAAACTG	0.438												
OR4K15	81127	broad.mit.edu	37	14	20443857	20443857	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:20443857A>G	uc010tkx.1	+	1	180	c.180A>G	c.(178-180)CTA>CTG	p.L60L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	60	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTTATCTAGCAATTCTGT	0.433												
CHD8	57680	broad.mit.edu	37	14	21883898	21883898	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:21883898T>C	uc001was.1	-	6	1142	c.1048A>G	c.(1048-1050)ATG>GTG	p.M350V	CHD8_uc001war.1_Missense_Mutation_p.M246V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	629					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGAACTGCATGGAAGGCAAA	0.453												
OR10G2	26534	broad.mit.edu	37	14	22102296	22102296	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:22102296T>C	uc010tmc.1	-	1	703	c.703A>G	c.(703-705)ACC>GCC	p.T235A		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCATCAGCGGTGCGTATCTTC	0.542												
SLC7A7	9056	broad.mit.edu	37	14	23243598	23243598	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23243598G>A	uc001wgr.3	-	8	1348	c.1210C>T	c.(1210-1212)CGC>TGC	p.R404C	SLC7A7_uc001wgs.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgt.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgu.3_Missense_Mutation_p.R404C|SLC7A7_uc001wgv.3_Missense_Mutation_p.R404C	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	404					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCCTTCCAGCGCAGATAAAGC	0.502												
RBM23	55147	broad.mit.edu	37	14	23374315	23374315	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23374315T>C	uc001whg.2	-	8	913	c.714A>G	c.(712-714)GTA>GTG	p.V238V	RBM23_uc001whh.2_Silent_p.V222V|RBM23_uc001whi.2_Silent_p.V204V|RBM23_uc010tne.1_Silent_p.V68V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Silent_p.V238V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	238	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GTGAAGCCTGTACAATGATAG	0.522												
PABPN1	8106	broad.mit.edu	37	14	23793252	23793252	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23793252G>A	uc001wjk.2	+	5	2002	c.720G>A	c.(718-720)AGG>AGA	p.R240R	PABPN1_uc001wjh.3_Silent_p.R267R|PABPN1_uc001wjj.2_Silent_p.R240R	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	240	Necessary for homooligomerization.|RRM.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTAGAGGAAGGCAAATCAAGG	0.408												
MYH6	4624	broad.mit.edu	37	14	23853710	23853710	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23853710C>T	uc001wjv.2	-	36	5573	c.5506G>A	c.(5506-5508)GCA>ACA	p.A1836T		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1836	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCGACTCTGCGTTGCGCTTC	0.632												
MYH7	4625	broad.mit.edu	37	14	23898214	23898214	+	Missense_Mutation	SNP	G	G	A	rs121913625		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:23898214G>A	uc001wjx.2	-	14	1463	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	453	Myosin head-like.		R -> C (in CMH1).|R -> H (in CMH1).		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)		AAGTACTGGCGTGGCTGCTTG	0.557												
LTB4R2	56413	broad.mit.edu	37	14	24780927	24780927	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:24780927G>A	uc001woq.1	+	1	2767	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.G353S|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank|LTB4R_uc001wou.2_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	384	Cytoplasmic (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0				GBM - Glioblastoma multiforme(265;0.018)		GGAGAAGGACGGTCCGGAATG	0.632												
NYNRIN	57523	broad.mit.edu	37	14	24884853	24884853	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:24884853C>T	uc001wpf.3	+	9	4216	c.3898C>T	c.(3898-3900)CCT>TCT	p.P1300S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1300					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GGTTCTGCCGCCTTTCTCTGA	0.607												
GZMH	2999	broad.mit.edu	37	14	25075943	25075943	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:25075943C>T	uc001wpr.1	-	5	652	c.607G>A	c.(607-609)GGG>AGG	p.G203R	GZMH_uc010aly.1_Missense_Mutation_p.G117R|GZMH_uc010alz.1_Silent_p.P71P	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	203	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		AGGGGCCCCCCGGAGTCCCCC	0.532												
FAM179B	23116	broad.mit.edu	37	14	45433605	45433605	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:45433605T>C	uc001wvv.2	+	1	2190	c.1981T>C	c.(1981-1983)TGG>CGG	p.W661R	FAM179B_uc001wvw.2_Missense_Mutation_p.W661R|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.W661R|FAM179B_uc001wvu.2_Missense_Mutation_p.W661R	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	661							binding			skin(2)|upper_aerodigestive_tract(1)	3						TAAATTACCATGGGAAAATGA	0.423												
TRIM9	114088	broad.mit.edu	37	14	51444057	51444057	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:51444057G>A	uc001wyx.3	-	10	2850	c.2085C>T	c.(2083-2085)ACC>ACT	p.T695T		NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	695	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CTGGGAGCCCGGTGTGCAGCG	0.597												
SLC35F4	341880	broad.mit.edu	37	14	58060660	58060660	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:58060660A>T	uc001xdb.1	-	2	394	c.394T>A	c.(394-396)TCA>ACA	p.S132T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						CACATACCTGATCTGTTCTGT	0.448												
KIAA0586	9786	broad.mit.edu	37	14	58915174	58915174	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:58915174T>C	uc001xdv.3	+	7	1197	c.924T>C	c.(922-924)TGT>TGC	p.C308C	KIAA0586_uc010trr.1_Silent_p.C349C|KIAA0586_uc001xdt.3_Silent_p.C264C|KIAA0586_uc001xdu.3_Silent_p.C293C|KIAA0586_uc010trs.1_Silent_p.C223C|KIAA0586_uc010trt.1_Silent_p.C168C|KIAA0586_uc010tru.1_Silent_p.C168C	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	308										ovary(1)	1						TTGGTAGCTGTAATCCATCTT	0.368												
RTN1	6252	broad.mit.edu	37	14	60213155	60213155	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:60213155T>C	uc001xen.1	-	2	495	c.286A>G	c.(286-288)ACA>GCA	p.T96A		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	96					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTTGATGTTGTTGAGAAG	0.468												
HIF1A	3091	broad.mit.edu	37	14	62213706	62213706	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:62213706T>C	uc001xfq.2	+	15	2788	c.2384T>C	c.(2383-2385)CTG>CCG	p.L795P	HIF1A_uc001xfr.2_3'UTR|HIF1A_uc001xfs.2_Missense_Mutation_p.L796P	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	795	CTAD.			L->A: Inhibits interaction with EP300 and transactivation activity.	cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTACCACAGCTGACCAGTTAT	0.373												
SYNE2	23224	broad.mit.edu	37	14	64679610	64679610	+	Missense_Mutation	SNP	G	G	A	rs34990313		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:64679610G>A	uc001xgm.2	+	105	19173	c.18943G>A	c.(18943-18945)GAG>AAG	p.E6315K	SYNE2_uc001xgl.2_Missense_Mutation_p.E6315K|SYNE2_uc010apy.2_Missense_Mutation_p.E2700K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1277K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E285K|SYNE2_uc001xgq.2_Missense_Mutation_p.E680K|SYNE2_uc001xgr.2_Missense_Mutation_p.E98K|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6315	Spectrin 8.|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)		TCAGAAGAGCGAGCCCCTGGA	0.527												
ZFYVE26	23503	broad.mit.edu	37	14	68249834	68249834	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:68249834C>T	uc001xka.2	-	21	4174	c.4035G>A	c.(4033-4035)GTG>GTA	p.V1345V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.V1345V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1345					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)		CAGCCAGAGGCACCTCCCTGC	0.622												
ACTN1	87	broad.mit.edu	37	14	69369233	69369233	+	Silent	SNP	G	G	A	rs149168564	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:69369233G>A	uc001xkl.2	-	8	1033	c.723C>T	c.(721-723)TAC>TAT	p.Y241Y	ACTN1_uc010ttb.1_Silent_p.Y176Y|ACTN1_uc001xkm.2_Silent_p.Y241Y|ACTN1_uc001xkn.2_Silent_p.Y241Y|ACTN1_uc001xko.1_Silent_p.Y176Y|ACTN1_uc010ttd.1_Silent_p.Y220Y	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	241	CH 2.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTAGACACGTAAGTCATGA	0.552												
SFRS5	6430	broad.mit.edu	37	14	70237203	70237203	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:70237203G>A	uc001xll.2	+	7	1837	c.386G>A	c.(385-387)AGA>AAA	p.R129K	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.R129K|SFRS5_uc001xlp.2_Missense_Mutation_p.R129K|SFRS5_uc001xlq.2_Missense_Mutation_p.R126K	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	129	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		GATTTCATGAGACAAGCTGGG	0.358												
ESRRB	2103	broad.mit.edu	37	14	76928919	76928919	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:76928919C>T	uc001xsq.1	+	3	496	c.429C>T	c.(427-429)AAC>AAT	p.N143N	ESRRB_uc001xsr.2_Silent_p.N143N|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGGCCACCAACGAGTGCGAGA	0.632												
ANGEL1	23357	broad.mit.edu	37	14	77255720	77255720	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77255720A>G	uc001xsv.2	-	10	1977	c.1864T>C	c.(1864-1866)TAT>CAT	p.Y622H	uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	622										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATCTCGATACAGCCTGTGA	0.557												
ISM2	145501	broad.mit.edu	37	14	77950769	77950769	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77950769G>A	uc001xtz.2	-	3	598	c.524C>T	c.(523-525)GCC>GTC	p.A175V	ISM2_uc001xua.2_Missense_Mutation_p.A175V|ISM2_uc001xty.2_Missense_Mutation_p.A87V|ISM2_uc010tvl.1_Intron	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	175						extracellular region				skin(1)	1						GGGAGGCGTGGCATTCCCTGG	0.597												
ISM2	145501	broad.mit.edu	37	14	77951252	77951252	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:77951252G>A	uc001xtz.2	-	2	226	c.152C>T	c.(151-153)TCC>TTC	p.S51F	ISM2_uc001xua.2_Missense_Mutation_p.S51F|ISM2_uc001xty.2_5'UTR|ISM2_uc010tvl.1_Missense_Mutation_p.S51F	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	51						extracellular region				skin(1)	1						AGGATCTGGGGAGGCTGAGAC	0.607												
C14orf145	145508	broad.mit.edu	37	14	81382887	81382887	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:81382887G>T	uc001xux.2	-	2	176	c.5C>A	c.(4-6)GCA>GAA	p.A2E	C14orf145_uc001xuz.2_Missense_Mutation_p.A2E|C14orf145_uc001xva.1_Missense_Mutation_p.A2E|C14orf145_uc010ata.1_Missense_Mutation_p.A2E	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	2						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		GGATGATTCTGCCATTGATGT	0.393												
STON2	85439	broad.mit.edu	37	14	81737109	81737109	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:81737109T>C	uc010tvu.1	-	5	2719	c.2518A>G	c.(2518-2520)ACT>GCT	p.T840A	STON2_uc001xvk.1_Missense_Mutation_p.T840A|STON2_uc010tvt.1_Missense_Mutation_p.T637A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	840	MHD.				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)		GAGGCAGAAGTTGTGGGCATG	0.502												
EML5	161436	broad.mit.edu	37	14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:89154773T>C	uc001xxg.2	-	19	2770	c.2584A>G	c.(2584-2586)AAA>GAA	p.K862E	EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	862	WD 14.					cytoplasm|microtubule				ovary(3)	3						GTGTCATTTTTCCCCAGTGTG	0.388												
TTC7B	145567	broad.mit.edu	37	14	91252559	91252559	+	Missense_Mutation	SNP	G	G	A	rs148256811	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:91252559G>A	uc001xyp.2	-	2	357	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	79							binding			ovary(2)	2		Melanoma(154;0.222)				AGATGCTTGCGGACCTCAGTC	0.642												
SMEK1	55671	broad.mit.edu	37	14	91937310	91937310	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:91937310G>A	uc001xzn.2	-	10	2353	c.1531C>T	c.(1531-1533)CTT>TTT	p.L511F	SMEK1_uc001xzm.2_Missense_Mutation_p.L498F|SMEK1_uc001xzo.2_Missense_Mutation_p.L498F|SMEK1_uc010atz.2_Missense_Mutation_p.L272F|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	511						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAATACAAGTGCCAATAGT	0.318												
TECPR2	9895	broad.mit.edu	37	14	102880991	102880991	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:102880991C>T	uc001ylw.1	+	5	647	c.499C>T	c.(499-501)CTG>TTG	p.L167L	TECPR2_uc010txw.1_Silent_p.L167L|TECPR2_uc010awl.2_Silent_p.L167L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	167							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TAACTCCCAGCTGGTGTTGGA	0.507												
TECPR2	9895	broad.mit.edu	37	14	102912238	102912238	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:102912238G>T	uc001ylw.1	+	13	3177	c.3029G>T	c.(3028-3030)GGC>GTC	p.G1010V	TECPR2_uc010awl.2_Missense_Mutation_p.G1010V|TECPR2_uc010txx.1_Missense_Mutation_p.G173V	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1010	TECPR 2.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TTCAGAACTGGCATTATTTCC	0.552												
PACS2	23241	broad.mit.edu	37	14	105834841	105834841	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105834841C>T	uc001yqt.2	+	7	881	c.706C>T	c.(706-708)CGG>TGG	p.R236W	PACS2_uc001yqs.2_Missense_Mutation_p.R169W|PACS2_uc001yqv.2_Missense_Mutation_p.R236W|PACS2_uc001yqu.2_Missense_Mutation_p.R236W	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	236					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)		GAAGAAGCAGCGGAGATCGAT	0.597												
MTA1	9112	broad.mit.edu	37	14	105935825	105935825	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105935825C>T	uc001yqx.2	+	19	2022	c.1835C>T	c.(1834-1836)GCC>GTC	p.A612V	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.A377V	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	612					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACGGACAGGCCAGGCACATG	0.627												
CYFIP1	23191	broad.mit.edu	37	15	22969309	22969309	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:22969309G>T	uc001yus.2	+	22	2639	c.2535G>T	c.(2533-2535)TGG>TGT	p.W845C	CYFIP1_uc001yut.2_Missense_Mutation_p.W845C|CYFIP1_uc010aya.1_Missense_Mutation_p.W873C|CYFIP1_uc001yuu.2_Missense_Mutation_p.W414C|CYFIP1_uc001yuv.2_Missense_Mutation_p.W39C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	845				FW->AA: Constitutive induction of the formation of actin filaments; when associated with A-841.	axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGTCTTCTGGGAGCTCAACT	0.637												
NDN	4692	broad.mit.edu	37	15	23931620	23931620	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:23931620G>A	uc001ywk.2	-	1	831	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	249	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TATGGGACGCGCTGGTACTTC	0.587									Prader-Willi_syndrome			
ATP10A	57194	broad.mit.edu	37	15	25925050	25925050	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:25925050T>G	uc010ayu.2	-	21	4044	c.3938A>C	c.(3937-3939)AAG>ACG	p.K1313T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1313	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCTGGGGGACTTCCTGGTCAA	0.517												
TJP1	7082	broad.mit.edu	37	15	30003035	30003035	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:30003035C>A	uc001zcr.2	-	24	4847	c.4372G>T	c.(4372-4374)GGT>TGT	p.G1458C	TJP1_uc010azl.2_Missense_Mutation_p.G1446C|TJP1_uc001zcq.2_Missense_Mutation_p.G1382C|TJP1_uc001zcs.2_Missense_Mutation_p.G1378C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1458					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AACTTCCTACCTTCACCATGT	0.453												
MTMR10	54893	broad.mit.edu	37	15	31239370	31239370	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:31239370A>G	uc001zfh.1	-	14	1609	c.1511T>C	c.(1510-1512)CTG>CCG	p.L504P	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.L85P|MTMR10_uc010azx.1_Missense_Mutation_p.L256P|MTMR10_uc001zfi.1_Missense_Mutation_p.L256P|MTMR10_uc001zfj.2_Missense_Mutation_p.L422P|MTMR10_uc001zfk.2_Missense_Mutation_p.L256P	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	504	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGAGTTGAACAGGAAGGTGCC	0.488												
NOP10	55505	broad.mit.edu	37	15	34634282	34634282	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:34634282A>G	uc001zie.1	-	2	170	c.82T>C	c.(82-84)TGC>CGC	p.C28R	C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	nucleolar protein family A, member 3	28					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding				0						TGGGCTGAGCAGGTCTGTTGT	0.532												
AQR	9716	broad.mit.edu	37	15	35224614	35224614	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:35224614A>C	uc001ziv.2	-	11	986	c.805T>G	c.(805-807)TGG>GGG	p.W269G		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	269						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)		GTATTAAACCAGCGCCTTGTG	0.428												
EIF2AK4	440275	broad.mit.edu	37	15	40309416	40309416	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40309416C>T	uc001zkm.1	+	29	4088	c.4038C>T	c.(4036-4038)CTC>CTT	p.L1346L	EIF2AK4_uc010bbj.1_Silent_p.L1047L|EIF2AK4_uc001zkn.1_Silent_p.L446L|EIF2AK4_uc001zko.1_Silent_p.L227L|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1346	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTGAAATCCTCGCAGCTGGAG	0.413												
BAHD1	22893	broad.mit.edu	37	15	40751732	40751732	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40751732A>C	uc001zlu.2	+	2	1140	c.1069A>C	c.(1069-1071)ATG>CTG	p.M357L	BAHD1_uc001zlt.2_Missense_Mutation_p.M357L|BAHD1_uc010bbp.1_Missense_Mutation_p.M357L|BAHD1_uc001zlv.2_Missense_Mutation_p.M357L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	357	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCGCTGCCGATGCCTGGCAA	0.637												
INO80	54617	broad.mit.edu	37	15	41346200	41346200	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:41346200C>T	uc001zni.2	-	19	2414	c.2201G>A	c.(2200-2202)CGC>CAC	p.R734H	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	734	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CATGTGTAAGCGAGAAAGTTG	0.368												
MGA	23269	broad.mit.edu	37	15	42032304	42032304	+	Silent	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42032304T>G	uc010ucy.1	+	14	4669	c.4488T>G	c.(4486-4488)CCT>CCG	p.P1496P	MGA_uc010ucz.1_Silent_p.P1496P|MGA_uc010uda.1_Silent_p.P112P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1496						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)		CCCTGTTGCCTTCAACATCCA	0.522												
SPTBN5	51332	broad.mit.edu	37	15	42155999	42155999	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42155999C>T	uc001zos.2	-	41	7280	c.6947G>A	c.(6946-6948)GGC>GAC	p.G2316D		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2351	Spectrin 20.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGCAAGTTGCCATGGAAACT	0.602												
SPTBN5	51332	broad.mit.edu	37	15	42167136	42167136	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42167136C>T	uc001zos.2	-	23	4634	c.4301G>A	c.(4300-4302)CGG>CAG	p.R1434Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1469	Spectrin 11.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCCAGGGTCCGGCTCTCACT	0.667												
CAPN3	825	broad.mit.edu	37	15	42652149	42652149	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:42652149G>A	uc001zpn.1	+	1	452	c.146G>A	c.(145-147)CGC>CAC	p.R49H	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.R49H|CAPN3_uc001zpp.1_Missense_Mutation_p.R49H	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	49					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATCATCAGCCGCAATTTTCCT	0.527												
EPB42	2038	broad.mit.edu	37	15	43500967	43500967	+	Missense_Mutation	SNP	C	C	T	rs121917734		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:43500967C>T	uc001zra.3	-	7	1139	c.839G>A	c.(838-840)CGA>CAA	p.R280Q	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Missense_Mutation_p.R125Q|EPB42_uc001zrb.3_Missense_Mutation_p.R310Q|EPB42_uc010udm.1_Missense_Mutation_p.R202Q	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	280			R -> Q (in SPH5; Tozeur).		erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCCCAGGCATCGCAGCACTGT	0.602												
LCMT2	9836	broad.mit.edu	37	15	43620632	43620632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:43620632G>A	uc001zrg.2	-	1	2260	c.2056C>T	c.(2056-2058)CAG>TAG	p.Q686*	LCMT2_uc010udn.1_Nonsense_Mutation_p.Q265*|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	686					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGTCCTTACTGCCCAGCACTT	0.453												
GATM	2628	broad.mit.edu	37	15	45661663	45661663	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:45661663A>G	uc001zvc.2	-	3	674	c.345T>C	c.(343-345)TTT>TTC	p.F115F	GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Silent_p.F168F	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	115					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATCTTTGGGAAAATAATGCC	0.383												
CYP19A1	1588	broad.mit.edu	37	15	51503021	51503021	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:51503021C>T	uc001zyz.3	-	11	1747	c.1496G>A	c.(1495-1497)AGG>AAG	p.R499K	CYP19A1_uc001zza.3_Missense_Mutation_p.R499K	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	499					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)	TTCCAGACACCTGTCTGAGTT	0.448												
DMXL2	23312	broad.mit.edu	37	15	51773499	51773499	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:51773499G>T	uc002abf.2	-	24	6029	c.5804C>A	c.(5803-5805)CCT>CAT	p.P1935H	DMXL2_uc002abd.2_Missense_Mutation_p.P5H|DMXL2_uc010ufy.1_Missense_Mutation_p.P1935H|DMXL2_uc010bfa.2_Missense_Mutation_p.P1299H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1935						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGAATGTGAAGGTACATCATC	0.393												
MYO5C	55930	broad.mit.edu	37	15	52515817	52515817	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:52515817T>C	uc010bff.2	-	29	3688	c.3551A>G	c.(3550-3552)CAG>CGG	p.Q1184R	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1184	Potential.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GAATAACTTCTGCAGGTGGTT	0.438												
MYO5C	55930	broad.mit.edu	37	15	52548869	52548869	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:52548869G>A	uc010bff.2	-	11	1499	c.1362C>T	c.(1360-1362)TAC>TAT	p.Y454Y	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	454	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TTTCATTAGCGTAATTGATGC	0.353											OREG0023130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UNC13C	440279	broad.mit.edu	37	15	54305975	54305975	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:54305975G>A	uc002ack.2	+	1	875	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	292					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)		GAGCAGTTGCGCACAGGGTTT	0.453												
GCOM1	145781	broad.mit.edu	37	15	57929928	57929928	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:57929928T>C	uc002aei.2	+	9	1088	c.969T>C	c.(967-969)CAT>CAC	p.H323H	GCOM1_uc002aej.2_Silent_p.H323H|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Silent_p.H323H|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Silent_p.H323H|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	323	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						TCCTAGAACATGAAACAGAAA	0.378												
TLN2	83660	broad.mit.edu	37	15	63084970	63084970	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:63084970G>A	uc002alb.3	+	43	5867	c.5867G>A	c.(5866-5868)CGT>CAT	p.R1956H	TLN2_uc002alc.3_Missense_Mutation_p.R349H	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1956					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						GAATGCGCCCGTGCCGTCACG	0.577												
HERC1	8925	broad.mit.edu	37	15	63908706	63908706	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:63908706C>T	uc002amp.2	-	75	14012	c.13864G>A	c.(13864-13866)GAT>AAT	p.D4622N		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4622	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TAGAGCAGATCCACCTCCTCC	0.532												
PIF1	80119	broad.mit.edu	37	15	65108840	65108840	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:65108840G>A	uc002ant.2	-	12	1865	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	PIF1_uc002anr.2_Missense_Mutation_p.A148V|PIF1_uc002ans.2_Missense_Mutation_p.A291V|PIF1_uc010uiq.1_Missense_Mutation_p.A600V	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	600	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						ACAGCGAACCGCCATGGGGTC	0.642												
TLE3	7090	broad.mit.edu	37	15	70350533	70350533	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:70350533G>A	uc002asm.2	-	12	2135	c.1016C>T	c.(1015-1017)TCG>TTG	p.S339L	TLE3_uc002ask.2_Missense_Mutation_p.S283L|TLE3_uc002asl.2_Missense_Mutation_p.S344L|TLE3_uc010ukd.1_Missense_Mutation_p.S332L|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.S339L|TLE3_uc002asn.2_Missense_Mutation_p.S339L|TLE3_uc002asp.2_Missense_Mutation_p.S339L|TLE3_uc002aso.2_Missense_Mutation_p.S339L	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	339	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						ACCCGGCATCGACCTGAGCCC	0.607												
HEXA	3073	broad.mit.edu	37	15	72647903	72647903	+	Nonsense_Mutation	SNP	G	G	A	rs121907962		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:72647903G>A	uc002aun.3	-	3	616	c.409C>T	c.(409-411)CGA>TGA	p.R137*	CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Nonsense_Mutation_p.R148*|HEXA_uc002auo.3_Silent_p.S15S|HEXA_uc010bix.2_Nonsense_Mutation_p.R137*|HEXA_uc010biy.2_Silent_p.S15S|HEXA_uc010uko.1_Silent_p.S15S|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	137					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						TTGTTACCTCGGAGAGCTCCC	0.363												
ISLR2	57611	broad.mit.edu	37	15	74427112	74427112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:74427112C>T	uc002axd.2	+	4	2786	c.2017C>T	c.(2017-2019)CAG>TAG	p.Q673*	ISLR2_uc002axe.2_Nonsense_Mutation_p.Q673*|ISLR2_uc010bjg.2_Nonsense_Mutation_p.Q673*|ISLR2_uc010bjf.2_Nonsense_Mutation_p.Q673*	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	673	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						AGAGGACGTGCAGGGGGAGGG	0.682											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEMA7A	8482	broad.mit.edu	37	15	74708310	74708310	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:74708310T>C	uc002axv.2	-	8	858	c.818A>G	c.(817-819)GAA>GGA	p.E273G	SEMA7A_uc010ulk.1_Missense_Mutation_p.E108G|SEMA7A_uc010ull.1_Missense_Mutation_p.E259G	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	273	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CAGTGAACTTTCCCCACCCTG	0.567												
CSK	1445	broad.mit.edu	37	15	75091756	75091756	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:75091756A>G	uc010bkb.1	+	6	569	c.386A>G	c.(385-387)TAC>TGC	p.Y129C	CSK_uc002ays.2_Missense_Mutation_p.Y129C|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	129	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GTGGAGCACTACCGCATCATG	0.607												
MAN2C1	4123	broad.mit.edu	37	15	75648662	75648662	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:75648662C>T	uc002baf.2	-	24	2883	c.2866G>A	c.(2866-2868)GTA>ATA	p.V956I	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.V933I|MAN2C1_uc002bah.2_Missense_Mutation_p.V973I|MAN2C1_uc010bkk.2_Missense_Mutation_p.V857I	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	956					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						GTCTCCAATACGACCGCGGGT	0.662												
SGK269	79834	broad.mit.edu	37	15	77425370	77425370	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:77425370G>A	uc002bcm.2	-	5	4362	c.4054C>T	c.(4054-4056)CCA>TCA	p.P1352S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1352	Protein kinase.				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)		TTATTAAGTGGATCTTTTGCA	0.388												
KIAA1199	57214	broad.mit.edu	37	15	81234237	81234237	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:81234237C>A	uc002bfw.1	+	25	3715	c.3455C>A	c.(3454-3456)GCT>GAT	p.A1152D	KIAA1199_uc010unn.1_Missense_Mutation_p.A1152D	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1152										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAGAAGTTTGCTTTCTGCTCC	0.493												
CPEB1	64506	broad.mit.edu	37	15	83218321	83218321	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:83218321C>T	uc002bit.2	-	9	1620	c.1483G>A	c.(1483-1485)GGT>AGT	p.G495S	CPEB1_uc002biq.2_Missense_Mutation_p.G355S|CPEB1_uc002bir.2_Missense_Mutation_p.G360S|CPEB1_uc002bis.2_Missense_Mutation_p.G355S|CPEB1_uc010uod.1_Missense_Mutation_p.G204S|CPEB1_uc010uoe.1_Missense_Mutation_p.G433S|CPEB1_uc002biu.2_Missense_Mutation_p.G457S|CPEB1_uc010uof.1_Missense_Mutation_p.G355S|CPEB1_uc002biv.2_Missense_Mutation_p.G430S|CPEB1_uc002bip.2_Missense_Mutation_p.G204S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	435	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCAGAGCACCGACAAACACC	0.542												
ACAN	176	broad.mit.edu	37	15	89398644	89398644	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:89398644T>A	uc010upo.1	+	12	3202	c.2828T>A	c.(2827-2829)ATC>AAC	p.I943N	ACAN_uc010upp.1_Missense_Mutation_p.I943N|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	943					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGCTGAGATCCTAGAGGGC	0.562												
BLM	641	broad.mit.edu	37	15	91354482	91354482	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:91354482G>A	uc002bpr.2	+	21	4019	c.3922G>A	c.(3922-3924)GGA>AGA	p.G1308R	BLM_uc010uqh.1_Missense_Mutation_p.G1308R|BLM_uc010uqi.1_Missense_Mutation_p.G933R|BLM_uc010bnx.2_Missense_Mutation_p.G1177R|BLM_uc002bpt.2_Missense_Mutation_p.G283R	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1308					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGAGGCCCCGGAAGAAGTGC	0.502			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
SV2B	9899	broad.mit.edu	37	15	91769808	91769808	+	Silent	SNP	C	C	T	rs34439404		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:91769808C>T	uc002bqv.2	+	1	706	c.315C>T	c.(313-315)GGC>GGT	p.G105G	SV2B_uc002bqt.2_Silent_p.G105G|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	105	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCATGGCCGCTTCCAGT	0.582												
LRRK1	79705	broad.mit.edu	37	15	101528930	101528930	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:101528930G>A	uc002bwr.2	+	5	844	c.525G>A	c.(523-525)ACG>ACA	p.T175T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.T175T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175	ANK 3.				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)			TGGTCCTGACGCACGGGGCTG	0.632												
SNRPA1	6627	broad.mit.edu	37	15	101833229	101833229	+	Splice_Site	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:101833229C>G	uc002bww.2	-	2	307	c.230_splice	c.e2+1	p.C77_splice	SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGACACGTACCATATTCTGT	0.373												
WDR24	84219	broad.mit.edu	37	16	739557	739557	+	Silent	SNP	G	G	A	rs143404878	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:739557G>A	uc002ciz.1	-	1	844	c.84C>T	c.(82-84)CCC>CCT	p.P28P		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	90										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				TGGCATTGGCGGGAGCATCCA	0.607												
METRN	79006	broad.mit.edu	37	16	766974	766974	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:766974G>A	uc002cjd.2	+	3	664	c.547G>A	c.(547-549)GCA>ACA	p.A183T	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	183											0		Hepatocellular(780;0.00335)				GCTCCTGGCCGCATGCACCAG	0.682												
UNKL	64718	broad.mit.edu	37	16	1416248	1416248	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:1416248T>C	uc010brn.1	-	9	1184	c.1166A>G	c.(1165-1167)CAG>CGG	p.Q389R	UNKL_uc002cln.2_Missense_Mutation_p.Q231R|UNKL_uc002clo.2_Missense_Mutation_p.Q228R|UNKL_uc002clp.2_Missense_Mutation_p.Q181R			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	679						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				AGGTCACCACTGCAGGGGCTG	0.682												
TBL3	10607	broad.mit.edu	37	16	2026090	2026090	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:2026090G>T	uc002cnu.1	+	12	1265	c.1163G>T	c.(1162-1164)GGG>GTG	p.G388V	TBL3_uc002cnv.1_Missense_Mutation_p.G274V|TBL3_uc010bsb.1_Missense_Mutation_p.G177V|TBL3_uc010bsc.1_Missense_Mutation_p.G274V|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	388	WD 8.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						TTCCGGAAGGGGTGGCTCTTT	0.627												
ZNF200	7752	broad.mit.edu	37	16	3283691	3283691	+	Missense_Mutation	SNP	G	G	A	rs61731430		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3283691G>A	uc002cuj.2	-	2	697	c.65C>T	c.(64-66)CCG>CTG	p.P22L	ZNF200_uc002cum.3_Missense_Mutation_p.P22L|ZNF200_uc010bti.2_Missense_Mutation_p.P22L|ZNF200_uc002cuk.2_Missense_Mutation_p.P22L|ZNF200_uc002cui.2_Missense_Mutation_p.P22L|ZNF200_uc002cul.3_Missense_Mutation_p.P22L	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GGAGTCTGGCGGAACTCTCAG	0.562												
BTBD12	84464	broad.mit.edu	37	16	3632656	3632656	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3632656G>A	uc002cvp.2	-	15	5819	c.5192C>T	c.(5191-5193)GCA>GTA	p.A1731V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1731	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCTTCACCTGCAGACTCAAA	0.617								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
BTBD12	84464	broad.mit.edu	37	16	3633383	3633383	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3633383G>A	uc002cvp.2	-	14	5495	c.4868C>T	c.(4867-4869)GCG>GTG	p.A1623V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1623	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCAGTGAGGCGCCTGCAACAG	0.622								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
TRAP1	10131	broad.mit.edu	37	16	3716054	3716054	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3716054G>A	uc002cvt.3	-	12	1390	c.1301C>T	c.(1300-1302)GCT>GTT	p.A434V	TRAP1_uc002cvs.2_Missense_Mutation_p.A225V|TRAP1_uc010uxf.1_Missense_Mutation_p.A381V	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	434					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)				ATACTTCTCAGCATCTTTTTT	0.443												
CREBBP	1387	broad.mit.edu	37	16	3778795	3778795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:3778795G>A	uc002cvv.2	-	31	6457	c.6253C>T	c.(6253-6255)CAG>TAG	p.Q2085*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q2047*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2085	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCAGCACCTGCTGTTGCTGC	0.607			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
MGRN1	23295	broad.mit.edu	37	16	4723611	4723611	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:4723611C>T	uc002cwz.2	+	10	1044	c.908C>T	c.(907-909)GCC>GTC	p.A303V	MGRN1_uc002cxa.2_Missense_Mutation_p.A303V|MGRN1_uc010btx.2_Missense_Mutation_p.A304V|MGRN1_uc010btw.2_Missense_Mutation_p.A304V|MGRN1_uc002cxb.2_Missense_Mutation_p.A342V|MGRN1_uc010uxo.1_Missense_Mutation_p.A303V|MGRN1_uc010uxp.1_Missense_Mutation_p.A303V|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	303	RING-type.				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						ACCTCCTGCGCCGACACGCTG	0.637												
PPL	5493	broad.mit.edu	37	16	4947716	4947716	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:4947716C>T	uc002cyd.1	-	9	1022	c.932G>A	c.(931-933)TGC>TAC	p.C311Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	311	Potential.|Spectrin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCTCTCCTCGCAGATGAGCAG	0.607												
SEC14L5	9717	broad.mit.edu	37	16	5058571	5058571	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:5058571C>T	uc002cye.2	+	14	1902	c.1722C>T	c.(1720-1722)ATC>ATT	p.I574I		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	574	GOLD.					integral to membrane|intracellular	transporter activity				0						GGCAGCTGATCGACAAAGGCT	0.647												
ABAT	18	broad.mit.edu	37	16	8862106	8862106	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:8862106G>A	uc002czc.3	+	10	826	c.660G>A	c.(658-660)AGG>AGA	p.R220R	ABAT_uc002czd.3_Silent_p.R220R|ABAT_uc010buh.2_Silent_p.R162R|ABAT_uc010bui.2_Silent_p.R220R	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	220			R -> K (in GABATD; 25% reduction in activity).		behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TCCATGGGAGGACCATGGGTA	0.468												
ABAT	18	broad.mit.edu	37	16	8866730	8866730	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:8866730G>A	uc002czc.3	+	12	1076	c.910G>A	c.(910-912)GCA>ACA	p.A304T	ABAT_uc002czd.3_Missense_Mutation_p.A304T|ABAT_uc010buh.2_Missense_Mutation_p.A246T|ABAT_uc010bui.2_Missense_Mutation_p.A304T	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	304					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AGACAACCACGCATCCGATGA	0.547												
GRIN2A	2903	broad.mit.edu	37	16	9943686	9943686	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:9943686C>T	uc002czo.3	-	5	1803	c.1255G>A	c.(1255-1257)GTG>ATG	p.V419M	GRIN2A_uc010uym.1_Missense_Mutation_p.V419M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V262M|GRIN2A_uc002czr.3_Missense_Mutation_p.V419M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	419	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCTTCCACGATGACGAAT	0.572												
CLEC16A	23274	broad.mit.edu	37	16	11154783	11154783	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:11154783C>T	uc002dao.2	+	19	2250	c.2020C>T	c.(2020-2022)CGT>TGT	p.R674C	CLEC16A_uc002dan.3_Missense_Mutation_p.R656C	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	674										ovary(1)|central_nervous_system(1)	2						CTTCATGCTGCGTTCCCTGTC	0.537												
RSL1D1	26156	broad.mit.edu	37	16	11933734	11933734	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:11933734C>T	uc002dbp.1	-	8	1037	c.964G>A	c.(964-966)GCA>ACA	p.A322T	RSL1D1_uc010buv.1_Missense_Mutation_p.A321T|RSL1D1_uc010uyw.1_Missense_Mutation_p.A102T|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	322					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CTTTCAGGTGCCACATCATCT	0.289												
ERCC4	2072	broad.mit.edu	37	16	14038694	14038694	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:14038694T>C	uc002dce.2	+	10	2026	c.2017_splice	c.e10+2	p.G673_splice	ERCC4_uc010uyz.1_Splice_Site_p.G223_splice	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent						double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GGAAAGCCGGTGAGTCCTGCA	0.483			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ABCC6	368	broad.mit.edu	37	16	16244625	16244625	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:16244625C>A	uc002den.3	-	30	4250	c.4213G>T	c.(4213-4215)GGC>TGC	p.G1405C	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.G157C	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1405	Cytoplasmic (By similarity).|ABC transporter 2.				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)		TGTTTCTGGCCCACGCTGGGA	0.602												
SMG1	23049	broad.mit.edu	37	16	18853038	18853038	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:18853038C>T	uc002dfm.2	-	41	6908	c.6545G>A	c.(6544-6546)CGC>CAC	p.R2182H	SMG1_uc010bwb.2_Missense_Mutation_p.R2042H|SMG1_uc010bwa.2_Missense_Mutation_p.R913H|SMG1_uc002dfo.3_Missense_Mutation_p.R480H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2182	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGTTTCTTGGCGATTAATTGT	0.398												
C16orf62	57020	broad.mit.edu	37	16	19580856	19580856	+	Silent	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:19580856T>A	uc002dgn.1	+	3	240	c.228T>A	c.(226-228)ACT>ACA	p.T76T	C16orf62_uc002dgo.1_Silent_p.T76T|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Silent_p.T76T	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	76						integral to membrane				ovary(1)	1						TCGATGGGACTGACCCCCTCT	0.597												
PDILT	204474	broad.mit.edu	37	16	20373875	20373875	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:20373875G>A	uc002dhc.1	-	10	1490	c.1267C>T	c.(1267-1269)CTG>TTG	p.L423L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	423	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AGTGGGAACAGCATCTTGCAC	0.463												
DNAH3	55567	broad.mit.edu	37	16	21145622	21145622	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:21145622A>G	uc010vbe.1	-	7	1040	c.1040T>C	c.(1039-1041)GTG>GCG	p.V347A	DNAH3_uc002die.2_Missense_Mutation_p.V318A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	347	Stem (By similarity).				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)		CATGGGGTTCACCGTGTGCAG	0.527												
ERN2	10595	broad.mit.edu	37	16	23713786	23713786	+	Nonsense_Mutation	SNP	G	G	A	rs144370049		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:23713786G>A	uc002dma.3	-	10	1319	c.1150C>T	c.(1150-1152)CGA>TGA	p.R384*	ERN2_uc010bxp.2_Nonsense_Mutation_p.R384*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R192*	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	336	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAGCCCTCTCGCTCTCCTGAG	0.597												
ZKSCAN2	342357	broad.mit.edu	37	16	25258237	25258237	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:25258237T>C	uc002dod.3	-	5	1687	c.1280A>G	c.(1279-1281)AAC>AGC	p.N427S	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.N223S|ZKSCAN2_uc002doe.2_Missense_Mutation_p.N427S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	427					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)		GGCTGCAGGGTTCAACAAAGC	0.488												
GTF3C1	2975	broad.mit.edu	37	16	27539961	27539961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:27539961G>A	uc002dov.1	-	6	971	c.931C>T	c.(931-933)CAA>TAA	p.Q311*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.Q311*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	311						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGGATCTCTTGCAAGCGAAGA	0.498												
KIAA0556	23247	broad.mit.edu	37	16	27751547	27751547	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:27751547C>A	uc002dow.2	+	15	1953	c.1929C>A	c.(1927-1929)ACC>ACA	p.T643T		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	643	Potential.									ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GCAAAGGCACCCATGAGATGG	0.552												
TAOK2	9344	broad.mit.edu	37	16	29998312	29998312	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:29998312G>A	uc002dva.1	+	16	3502	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.E914K|TAOK2_uc002dvd.1_Missense_Mutation_p.E734K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	907	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AGAAGAGGAAGAGGGGGCTCC	0.622												
SEPT1	1731	broad.mit.edu	37	16	30392561	30392561	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:30392561G>A	uc002dxy.2	-	7	632	c.445C>T	c.(445-447)CGG>TGG	p.R149W	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	149				LRP -> SR (in Ref. 1; AAL40393).	cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TCTAGGGGCCGGAGCCTGCAC	0.637												
STX1B	112755	broad.mit.edu	37	16	31004510	31004510	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:31004510C>T	uc010cad.2	-	9	839	c.727G>A	c.(727-729)GTG>ATG	p.V243M	STX1B_uc010vfd.1_Missense_Mutation_p.V243M	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	243	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						GCTCGCTCCACGTAGTCCACA	0.607												
PAPD5	64282	broad.mit.edu	37	16	50256229	50256229	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:50256229T>A	uc010vgo.1	+	7	1041	c.1006T>A	c.(1006-1008)TTG>ATG	p.L336M	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.L127M|PAPD5_uc002ega.2_Missense_Mutation_p.L127M	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	257					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATATCCTGTATTGCCATACTT	0.328												
ADCY7	113	broad.mit.edu	37	16	50343556	50343556	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:50343556C>T	uc002egd.1	+	17	2427	c.2159C>T	c.(2158-2160)CCG>CTG	p.P720L	ADCY7_uc002egc.1_Missense_Mutation_p.P720L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	720	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GAGCCCCTCCCGGTGAGTGCG	0.632												
SALL1	6299	broad.mit.edu	37	16	51175243	51175243	+	Missense_Mutation	SNP	G	G	A	rs59416382		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:51175243G>A	uc010vgs.1	-	2	921	c.890C>T	c.(889-891)GCT>GTT	p.A297V	SALL1_uc010vgr.1_Missense_Mutation_p.A200V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	297	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)			TGCCAATCCAGCTGCTGCTGC	0.522												
IRX5	10265	broad.mit.edu	37	16	54967668	54967668	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:54967668C>T	uc002ehv.2	+	3	1335	c.1335C>T	c.(1333-1335)ACC>ACT	p.T445T	IRX5_uc002ehw.2_Silent_p.T379T	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	445					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						TAAACCAGACCGTGTTGAACC	0.557												
CCDC135	84229	broad.mit.edu	37	16	57760152	57760152	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:57760152G>A	uc002emi.2	+	13	2020	c.1931G>A	c.(1930-1932)GGC>GAC	p.G644D	CCDC135_uc002emj.2_Missense_Mutation_p.G644D|CCDC135_uc002emk.2_Missense_Mutation_p.G579D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	644						cytoplasm				central_nervous_system(1)	1						GACAGCAAAGGCAACAAGATC	0.667												
PRSS54	221191	broad.mit.edu	37	16	58324876	58324876	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:58324876C>T	uc002enf.2	-	4	645	c.250G>A	c.(250-252)GCC>ACC	p.A84T	PRSS54_uc002eng.2_Missense_Mutation_p.A84T|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	84	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TTCTGAATGGCGGATGCGATG	0.652												
SETD6	79918	broad.mit.edu	37	16	58551980	58551980	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:58551980A>G	uc002ens.2	+	6	877	c.818A>G	c.(817-819)CAG>CGG	p.Q273R	SETD6_uc002enr.2_Missense_Mutation_p.Q249R|SETD6_uc010cdm.2_RNA	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	273	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						GTAGCCACTCAGCCCATTCCT	0.463												
CDH11	1009	broad.mit.edu	37	16	64981565	64981565	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:64981565G>T	uc002eoi.2	-	13	2766	c.2332C>A	c.(2332-2334)CGT>AGT	p.R778S	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.R652S	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	778	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCTTAAAACGAGGTCCCCAG	0.458			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
DYNC1LI2	1783	broad.mit.edu	37	16	66764114	66764114	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:66764114C>A	uc002eqb.1	-	8	973	c.942G>T	c.(940-942)TGG>TGT	p.W314C	DYNC1LI2_uc010vis.1_Missense_Mutation_p.W237C	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	314					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTTCATTGTCCCAGCCTGCAG	0.443												
CDH16	1014	broad.mit.edu	37	16	66944197	66944197	+	Silent	SNP	C	C	T	rs149929306		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:66944197C>T	uc002eql.2	-	15	2206	c.2133G>A	c.(2131-2133)ACG>ACA	p.T711T	CDH16_uc010cdy.2_Silent_p.T689T|CDH16_uc002eqm.2_Silent_p.T614T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	711	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCGTTGCACCGTGGGGTTGG	0.632												
SLC9A5	6553	broad.mit.edu	37	16	67289730	67289730	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67289730C>T	uc002esm.2	+	5	871	c.808C>T	c.(808-810)CGC>TGC	p.R270C	SLC9A5_uc010cee.2_Translation_Start_Site|SLC9A5_uc010vji.1_Intron	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	270					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTGACCACACGCTTCACCAA	0.627												
FAM65A	79567	broad.mit.edu	37	16	67572574	67572574	+	Splice_Site	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67572574G>A	uc010vjp.1	+	3	261	c.165_splice	c.e3-1	p.R55_splice	FAM65A_uc010cei.1_Splice_Site|FAM65A_uc002eth.2_Splice_Site_p.R35_splice|FAM65A_uc010cej.2_Missense_Mutation_p.R38K|FAM65A_uc002eti.1_Intron|FAM65A_uc010vjq.1_Splice_Site_p.R49_splice|FAM65A_uc002etj.1_Splice_Site_p.R34_splice|FAM65A_uc002etk.2_Splice_Site_p.R34_splice	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567							cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCTTCAGGAGTTTCCCG	0.662												
CTCF	10664	broad.mit.edu	37	16	67650676	67650676	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67650676C>T	uc002etl.2	+	5	1271	c.981C>T	c.(979-981)TGC>TGT	p.C327C	CTCF_uc010cek.2_5'UTR	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	327	C2H2-type 3.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCCAGACTGCGACATGGCCT	0.498												
LCAT	3931	broad.mit.edu	37	16	67976822	67976822	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67976822G>A	uc002euy.1	-	3	380	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	123			R -> C (in FED).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGCCAGGGACGCGGATCTGGA	0.657												
SLC12A4	6560	broad.mit.edu	37	16	67988673	67988673	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:67988673C>A	uc002euz.2	-	6	689	c.548G>T	c.(547-549)GGG>GTG	p.G183V	SLC12A4_uc010ceu.2_Missense_Mutation_p.G177V|SLC12A4_uc010vkh.1_Missense_Mutation_p.G152V|SLC12A4_uc010vki.1_Missense_Mutation_p.G183V|SLC12A4_uc010vkj.1_Missense_Mutation_p.G185V|SLC12A4_uc002eva.2_Missense_Mutation_p.G183V|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.G66V	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	183	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGGAGCCCCCAGCTACAGC	0.453												
CDH3	1001	broad.mit.edu	37	16	68716295	68716295	+	Missense_Mutation	SNP	C	C	T	rs74026937	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:68716295C>T	uc002ewf.2	+	9	2219	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	CDH3_uc010vli.1_Missense_Mutation_p.R308C	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	363	Extracellular (Potential).|Cadherin 3.				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)		ACCAGCGTGGCGTGCCACCTA	0.597												
TMCO7	79613	broad.mit.edu	37	16	68901094	68901094	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:68901094T>C	uc002ewi.3	+	4	977	c.965T>C	c.(964-966)GTA>GCA	p.V322A	TMCO7_uc002ewh.2_Missense_Mutation_p.V322A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	322						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GTTCAGGCAGTAGTCCGGGGC	0.478												
PDPR	55066	broad.mit.edu	37	16	70166126	70166126	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:70166126A>G	uc002eyf.1	+	9	1877	c.920A>G	c.(919-921)AAG>AGG	p.K307R	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.K207R|PDPR_uc002eyg.1_Missense_Mutation_p.K35R	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	307					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGCTTTGAGAAGAACCCGAAA	0.473												
HYDIN	54768	broad.mit.edu	37	16	70891679	70891679	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:70891679A>G	uc002ezr.2	-	72	12349	c.12221T>C	c.(12220-12222)CTG>CCG	p.L4074P	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4075										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTTGCCTACCAGCAGGAAAGG	0.473												
PHLPP2	23035	broad.mit.edu	37	16	71689152	71689152	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:71689152A>G	uc002fax.2	-	16	2582	c.2576T>C	c.(2575-2577)GTA>GCA	p.V859A	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.V792A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	859	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CCTGTGAGATACCAAGAAGGT	0.428												
ADAT1	23536	broad.mit.edu	37	16	75646156	75646156	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:75646156C>A	uc002feo.1	-	7	1130	c.1028G>T	c.(1027-1029)AGA>ATA	p.R343I	ADAT1_uc002fep.1_Missense_Mutation_p.R194I	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	343	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						AATCAGTGCTCTCTGCATGGC	0.348												
ATMIN	23300	broad.mit.edu	37	16	81078031	81078031	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:81078031C>T	uc002ffz.1	+	4	1946	c.1928C>T	c.(1927-1929)TCG>TTG	p.S643L	ATMIN_uc002fga.2_Missense_Mutation_p.S485L|ATMIN_uc010vnn.1_Missense_Mutation_p.S414L|ATMIN_uc002fgb.1_Missense_Mutation_p.S485L	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	643					response to DNA damage stimulus	nucleus	zinc ion binding				0						GAGTTCTTTTCGGCCTCAAAT	0.498												
HSDL1	83693	broad.mit.edu	37	16	84163719	84163719	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:84163719C>T	uc002fhk.2	-	4	722	c.538G>A	c.(538-540)GCC>ACC	p.A180T	HSDL1_uc010vnv.1_Missense_Mutation_p.A125T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	180						mitochondrion	oxidoreductase activity|protein binding				0						AAACTAGCGGCGGCAATGTTC	0.498												
ANKRD11	29123	broad.mit.edu	37	16	89348778	89348778	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89348778T>G	uc002fmx.1	-	9	4633	c.4172A>C	c.(4171-4173)CAG>CCG	p.Q1391P	ANKRD11_uc002fmy.1_Missense_Mutation_p.Q1391P|ANKRD11_uc002fnc.1_Missense_Mutation_p.Q1391P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.Q1348P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1391	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTTCGTACTGGCCGGAGTC	0.483												
SPG7	6687	broad.mit.edu	37	16	89620279	89620279	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89620279G>A	uc002fnj.2	+	15	2035	c.2014G>A	c.(2014-2016)GGG>AGG	p.G672R	SPG7_uc002fnl.2_Missense_Mutation_p.G81R	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	672	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACCTGGCATCGGGCCCATCTC	0.652												
FANCA	2175	broad.mit.edu	37	16	89849268	89849268	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89849268T>G	uc002fou.1	-	17	1667	c.1625A>C	c.(1624-1626)GAG>GCG	p.E542A	FANCA_uc010vpn.1_Missense_Mutation_p.E542A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	542					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAACATTACCTCAGTAATGTC	0.463			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
SPIRE2	84501	broad.mit.edu	37	16	89921027	89921027	+	Missense_Mutation	SNP	C	C	T	rs142759329		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:89921027C>T	uc002foz.1	+	5	911	c.859C>T	c.(859-861)CGG>TGG	p.R287W	SPIRE2_uc010civ.1_Missense_Mutation_p.R202W|SPIRE2_uc010ciw.1_Missense_Mutation_p.R287W|SPIRE2_uc002fpa.1_Missense_Mutation_p.R239W|SPIRE2_uc010cix.1_Missense_Mutation_p.R156W	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	287	WH2 2.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCAGGACATCCGGGCCCGGAA	0.647												
DBNDD1	79007	broad.mit.edu	37	16	90075836	90075836	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:90075836T>C	uc002fqf.1	-	2	222	c.34A>G	c.(34-36)ATC>GTC	p.I12V	DBNDD1_uc002fqe.1_Missense_Mutation_p.I32V|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	12						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCCTTAACGATCTCTGCATCC	0.642												
ZZEF1	23140	broad.mit.edu	37	17	3935533	3935533	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:3935533C>T	uc002fxe.2	-	42	6843	c.6779G>A	c.(6778-6780)CGC>CAC	p.R2260H	ZZEF1_uc002fxh.2_Missense_Mutation_p.R574H|ZZEF1_uc002fxi.2_Missense_Mutation_p.R495H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2260							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATAAACGCAGCGGGTTCCCAC	0.458												
MYBBP1A	10514	broad.mit.edu	37	17	4446275	4446275	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4446275C>T	uc002fyb.3	-	20	2887	c.2825G>A	c.(2824-2826)TGC>TAC	p.C942Y	MYBBP1A_uc002fxz.3_Missense_Mutation_p.C942Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	942					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						CTCATGCACGCAGCCCTCAGC	0.672												
CAMTA2	23125	broad.mit.edu	37	17	4880351	4880351	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4880351A>G	uc002gah.1	-	11	2008	c.1900_splice	c.e11+1	p.D634_splice	CAMTA2_uc010cku.1_Splice_Site_p.D657_splice|CAMTA2_uc002gag.1_Splice_Site_p.D633_splice|CAMTA2_uc002gai.1_Splice_Site_p.D636_splice|CAMTA2_uc010ckv.1_Splice_Site_p.D281_splice	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						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						CTGGGTACTCACCGTCCAGTG	0.577												
GPR172B	55065	broad.mit.edu	37	17	4936856	4936856	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:4936856G>A	uc002gap.3	-	3	1641	c.928C>T	c.(928-930)CGC>TGC	p.R310C	GPR172B_uc002gao.3_Missense_Mutation_p.R310C|GPR172B_uc010ckw.2_Missense_Mutation_p.R188C|GPR172B_uc010ckx.2_Missense_Mutation_p.R310C	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	310						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						TAGGCCAGGCGCCCATAGGGC	0.642												
TEKT1	83659	broad.mit.edu	37	17	6704118	6704118	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:6704118C>T	uc002gdt.2	-	7	1107	c.997G>A	c.(997-999)GCA>ACA	p.A333T	TEKT1_uc010vth.1_Missense_Mutation_p.A187T	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	333	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				CTATATTGTGCGACATCACGA	0.517											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FGF11	2256	broad.mit.edu	37	17	7345947	7345947	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7345947G>A	uc002ggz.2	+	4	694	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	FGF11_uc010vtw.1_3'UTR|FGF11_uc010cmi.2_Missense_Mutation_p.C24Y|FGF11_uc010vtx.1_Missense_Mutation_p.C89Y|FGF11_uc002gha.3_Missense_Mutation_p.C24Y|CHRNB1_uc002ghb.2_5'Flank|CHRNB1_uc010vty.1_5'Flank	NM_004112	NP_004103	Q92914	FGF11_HUMAN	fibroblast growth factor 11	148					cell-cell signaling|nervous system development|signal transduction		growth factor activity				0		Prostate(122;0.157)				TTTAAGGAGTGTGTCTTTGAG	0.547												
EIF4A1	1973	broad.mit.edu	37	17	7480480	7480480	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7480480C>A	uc002gho.1	+	14	1946	c.621C>A	c.(619-621)ACC>ACA	p.T207T	EIF4A1_uc002ghr.1_Silent_p.T207T|EIF4A1_uc002ghq.1_Silent_p.T207T|EIF4A1_uc002ghp.1_Silent_p.T207T|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	207	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						ACAGCAACACCCAGGTGAGGG	0.413												
FXR2	9513	broad.mit.edu	37	17	7496382	7496382	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7496382C>A	uc002gia.1	-	13	1675	c.1448G>T	c.(1447-1449)CGG>CTG	p.R483L	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	483						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCCAGTCGGCCGCCTCCGGCT	0.622												
ALOXE3	59344	broad.mit.edu	37	17	8012618	8012618	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:8012618G>A	uc010cnr.2	-	12	1806	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	ALOXE3_uc002gka.2_Missense_Mutation_p.T635M|ALOXE3_uc010vuo.1_Missense_Mutation_p.T611M	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	479	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GGCCAGGCCCGTGCTCATGAG	0.652												
MYH4	4622	broad.mit.edu	37	17	10367791	10367791	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:10367791G>T	uc002gmn.2	-	7	757	c.646C>A	c.(646-648)CAG>AAG	p.Q216K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	216	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATGCCCACCTGCATTTTGCCA	0.308												
DNAH9	1770	broad.mit.edu	37	17	11593307	11593307	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:11593307A>G	uc002gne.2	+	20	4236	c.4168A>G	c.(4168-4170)ATG>GTG	p.M1390V	DNAH9_uc010coo.2_Missense_Mutation_p.M684V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1390	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGCAGCTGATGCAGGCCAC	0.622												
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:17766051C>T	uc002grz.3	-	11	1353	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	TOM1L2_uc002gry.3_Missense_Mutation_p.R349H|TOM1L2_uc010vwy.1_Missense_Mutation_p.R346H|TOM1L2_uc010cpr.2_Missense_Mutation_p.R354H|TOM1L2_uc010vwz.1_Missense_Mutation_p.R251H|TOM1L2_uc010vxa.1_Missense_Mutation_p.R301H|TOM1L2_uc002grv.3_Missense_Mutation_p.R132H	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	399					intracellular protein transport	intracellular					0	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527												
TRIM16L	147166	broad.mit.edu	37	17	18630984	18630984	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:18630984C>T	uc002gug.1	+	7	801	c.114C>T	c.(112-114)CAC>CAT	p.H38H	TRIM16L_uc010vyf.1_Silent_p.H92H|TRIM16L_uc002guh.1_Silent_p.H38H|TRIM16L_uc010cqg.1_Silent_p.H140H|TRIM16L_uc002gui.1_Silent_p.H38H|TRIM16L_uc010vyg.1_Silent_p.H38H|TRIM16L_uc010vyh.1_Silent_p.H38H	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	38						cytoplasm					0						TCAAGGCCCACCTGGAGTACA	0.567												
SLC47A1	55244	broad.mit.edu	37	17	19480786	19480786	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:19480786C>T	uc002gvy.1	+	17	1719	c.1633C>T	c.(1633-1635)CGG>TGG	p.R545W	SLC47A1_uc002gvx.2_Missense_Mutation_p.R545W|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Missense_Mutation_p.R243W|SLC47A1_uc010cqq.1_Missense_Mutation_p.R291W|SLC47A1_uc010vza.1_Missense_Mutation_p.R257W|SLC47A1_uc010vzb.1_Missense_Mutation_p.R220W|SLC47A1_uc010vzc.1_Missense_Mutation_p.R217W	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	545	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCTGGTGCTGCGGCGAGGGCT	0.522												
ALDH3A2	224	broad.mit.edu	37	17	19568270	19568270	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:19568270C>T	uc002gwb.1	+	8	1338	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	ALDH3A2_uc002gwa.1_Missense_Mutation_p.R373W|ALDH3A2_uc010cqr.1_Missense_Mutation_p.R180W|ALDH3A2_uc002gwc.1_Missense_Mutation_p.R373W|ALDH3A2_uc002gwd.1_Missense_Mutation_p.R180W	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	373	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GCTCATCAAACGGATGATTGA	0.512												
USP22	23326	broad.mit.edu	37	17	20921375	20921375	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:20921375G>A	uc002gym.3	-	5	774	c.570C>T	c.(568-570)ATC>ATT	p.I190I	USP22_uc002gyn.3_Silent_p.I178I|USP22_uc002gyl.3_Silent_p.I85I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	190					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						GGGCCTGCACGATGCAGTTCA	0.572												
USP22	23326	broad.mit.edu	37	17	20921424	20921424	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:20921424C>T	uc002gym.3	-	5	725	c.521G>A	c.(520-522)GGT>GAT	p.G174D	USP22_uc002gyn.3_Missense_Mutation_p.G162D|USP22_uc002gyl.3_Missense_Mutation_p.G69D	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	174					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						CCCACGCAGACCTGGACACAA	0.542												
VTN	7448	broad.mit.edu	37	17	26694878	26694878	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:26694878G>A	uc002hbc.2	-	7	1331	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	394	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGGATGGCCGGCGGGAGTTCT	0.597												
SPAG5	10615	broad.mit.edu	37	17	26912386	26912386	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:26912386A>G	uc002hbq.2	-	9	1996	c.1904T>C	c.(1903-1905)GTG>GCG	p.V635A	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	635	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					AGTAAGACTCACTGTCTGCTG	0.468												
C17orf63	55731	broad.mit.edu	37	17	27086766	27086766	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:27086766G>A	uc002hct.1	-	3	478	c.211C>T	c.(211-213)CGG>TGG	p.R71W	C17orf63_uc010wax.1_Missense_Mutation_p.R71W|C17orf63_uc010way.1_Missense_Mutation_p.R71W|C17orf63_uc002hcw.2_5'UTR	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	71										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			ACGTGTTTCCGCTGGGGAACC	0.552												
TMEM132E	124842	broad.mit.edu	37	17	32964233	32964233	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:32964233G>A	uc002hif.2	+	10	2265	c.1937G>A	c.(1936-1938)GGC>GAC	p.G646D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	646	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		TACAGTGATGGCACCACAGCC	0.562												
CCT6B	10693	broad.mit.edu	37	17	33266337	33266337	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33266337A>G	uc002hig.2	-	10	1172	c.1078T>C	c.(1078-1080)TTC>CTC	p.F360L	CCT6B_uc010ctg.2_Missense_Mutation_p.F323L|CCT6B_uc010wcc.1_Missense_Mutation_p.F315L	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	360					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				ATAAAAGTGAACTTTTCTTCA	0.323												
LIG3	3980	broad.mit.edu	37	17	33325729	33325729	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33325729A>G	uc002hik.1	+	14	2204	c.2096A>G	c.(2095-2097)TAT>TGT	p.Y699C	LIG3_uc002hij.2_Missense_Mutation_p.Y699C	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	699					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GGAGCCTTCTATGGGCAAGGG	0.567								Other_BER_factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLFN11	91607	broad.mit.edu	37	17	33679963	33679963	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33679963C>A	uc010ctp.2	-	7	2560	c.2118G>T	c.(2116-2118)CAG>CAT	p.Q706H	SLFN11_uc010ctq.2_Missense_Mutation_p.Q706H|SLFN11_uc002hjh.3_Missense_Mutation_p.Q706H|SLFN11_uc002hjg.3_Missense_Mutation_p.Q706H|SLFN11_uc010ctr.2_Missense_Mutation_p.Q706H	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	706						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTGGCTGGTCTGAAAGTAAT	0.498												
AP2B1	163	broad.mit.edu	37	17	33935348	33935348	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33935348T>C	uc002hjr.2	+	5	656	c.467T>C	c.(466-468)GTG>GCG	p.V156A	AP2B1_uc002hjq.2_Missense_Mutation_p.V156A|AP2B1_uc010wci.1_Missense_Mutation_p.V118A|AP2B1_uc002hjs.2_Missense_Mutation_p.V99A|AP2B1_uc002hjt.2_Missense_Mutation_p.V156A|AP2B1_uc010ctv.2_Missense_Mutation_p.V156A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	156					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCCAAATGGTGGAAGATCAG	0.438												
GGNBP2	79893	broad.mit.edu	37	17	34934525	34934525	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:34934525T>C	uc002hnb.2	+	7	1003	c.754T>C	c.(754-756)TGC>CGC	p.C252R	GGNBP2_uc002hna.2_Missense_Mutation_p.C252R|GGNBP2_uc002hnc.1_Missense_Mutation_p.C81R	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	252					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)		AGGCTTGCGGTGCTGTCCACA	0.453												
HNF1B	6928	broad.mit.edu	37	17	36065026	36065026	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:36065026C>A	uc002hok.3	-	6	1458	c.1237G>T	c.(1237-1239)GTC>TTC	p.V413F	HNF1B_uc010wdi.1_Missense_Mutation_p.V387F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	413					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAGGTGCTGACTGGGGGCAAA	0.493									Hereditary_Prostate_Cancer			
RPL19	6143	broad.mit.edu	37	17	37359334	37359334	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37359334C>T	uc002hrq.1	+	4	390	c.328C>T	c.(328-330)CGT>TGT	p.R110C	RPL19_uc002hrr.1_Missense_Mutation_p.R108C	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CAGAAGATACCGTGAATCTAA	0.498												
MED1	5469	broad.mit.edu	37	17	37571384	37571384	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37571384A>G	uc002hrv.3	-	16	1606	c.1394T>C	c.(1393-1395)GTG>GCG	p.V465A	MED1_uc010wee.1_Missense_Mutation_p.V293A|MED1_uc002hru.2_Missense_Mutation_p.V465A	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	465	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATCCATTACCACTGAAAGACA	0.423										HNSCC(31;0.082)		
CDK12	51755	broad.mit.edu	37	17	37682159	37682159	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:37682159C>A	uc010cvv.2	+	13	3936	c.3350C>A	c.(3349-3351)GCA>GAA	p.A1117E	CDK12_uc010wef.1_Missense_Mutation_p.A1116E|CDK12_uc002hrw.3_Missense_Mutation_p.A1117E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1117					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AGTGAATTGGCAGTGTTATTA	0.498										TCGA Ovarian(9;0.13)		
KRT16	3868	broad.mit.edu	37	17	39767703	39767703	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:39767703C>T	uc002hxg.3	-	3	804	c.665G>A	c.(664-666)GGC>GAC	p.G222D	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	222	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				CCGGCGCAGGCCATTGACGTC	0.617												
ATP6V0A1	535	broad.mit.edu	37	17	40665982	40665982	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:40665982G>T	uc002hzr.2	+	20	2401	c.2234G>T	c.(2233-2235)AGC>ATC	p.S745I	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S739I|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S746I|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S702I|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S696I|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S391I|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S604I|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.S29I	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	745	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGGCCCTCAGCCTCGCTCAT	0.597												
GRN	2896	broad.mit.edu	37	17	42430091	42430091	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:42430091T>C	uc002igp.1	+	13	1926	c.1707T>C	c.(1705-1707)GGT>GGC	p.G569G	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	569					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGCCAGGGGTACCAAGTGTT	0.652												
GPATCH8	23131	broad.mit.edu	37	17	42501806	42501806	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:42501806T>C	uc002igw.1	-	6	467	c.403A>G	c.(403-405)AAC>GAC	p.N135D	GPATCH8_uc002igv.1_Missense_Mutation_p.N57D|GPATCH8_uc010wiz.1_Missense_Mutation_p.N57D	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	135						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAATAAAAGTTGGCTCTGAGG	0.373												
FMNL1	752	broad.mit.edu	37	17	43317920	43317920	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:43317920G>A	uc002iin.2	+	12	1358	c.1158G>A	c.(1156-1158)GCG>GCA	p.A386A	FMNL1_uc002iiq.2_5'Flank|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	386	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						ATGTGGGGGCGCTGCTGGAGG	0.597												
CRHR1	1394	broad.mit.edu	37	17	43912119	43912119	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:43912119A>G	uc010dap.2	+	14	1589	c.1324A>G	c.(1324-1326)ACA>GCA	p.T442A	CRHR1_uc010wjx.1_Missense_Mutation_p.T238A|CRHR1_uc002ijp.2_Silent_p.P266P|CRHR1_uc002ijm.2_Missense_Mutation_p.T413A|CRHR1_uc002ijn.2_Missense_Mutation_p.T373A|CRHR1_uc010dar.2_Missense_Mutation_p.T399A|CRHR1_uc010dao.2_Missense_Mutation_p.T312A|CRHR1_uc010daq.2_Missense_Mutation_p.T238A	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	442	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CAAGCAGTCCACAGCAGTCTG	0.647												
SGCA	6442	broad.mit.edu	37	17	48246568	48246568	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48246568G>A	uc002iqi.2	+	6	736	c.700G>A	c.(700-702)GAC>AAC	p.D234N	SGCA_uc010wmh.1_Missense_Mutation_p.D132N|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	234	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GTCTTGCTACGACACCTTGGC	0.642											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EME1	146956	broad.mit.edu	37	17	48452823	48452823	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48452823G>A	uc002iqs.1	+	2	327	c.254G>A	c.(253-255)AGT>AAT	p.S85N	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.S85N	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	85					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTGCTAAGCAGTGAAAGTGAA	0.473								Direct_reversal_of_damage|Homologous_recombination				
LRRC59	55379	broad.mit.edu	37	17	48470164	48470164	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48470164A>T	uc002iqt.2	-	3	414	c.260T>A	c.(259-261)CTC>CAC	p.L87H		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	87	LRR 4.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGGTGCTGGAGGTTGACCAG	0.527												
CACNA1G	8913	broad.mit.edu	37	17	48650021	48650021	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48650021G>A	uc002irk.1	+	6	1225	c.853G>A	c.(853-855)GTG>ATG	p.V285M	CACNA1G_uc002iri.1_Missense_Mutation_p.V285M|CACNA1G_uc002irj.1_Missense_Mutation_p.V285M|CACNA1G_uc002irl.1_Missense_Mutation_p.V285M|CACNA1G_uc002irm.1_Missense_Mutation_p.V285M|CACNA1G_uc002irn.1_Missense_Mutation_p.V285M|CACNA1G_uc002iro.1_Missense_Mutation_p.V285M|CACNA1G_uc002irp.1_Missense_Mutation_p.V285M|CACNA1G_uc002irq.1_Missense_Mutation_p.V285M|CACNA1G_uc002irr.1_Missense_Mutation_p.V285M|CACNA1G_uc002irs.1_Missense_Mutation_p.V285M|CACNA1G_uc002irt.1_Missense_Mutation_p.V285M|CACNA1G_uc002irv.1_Missense_Mutation_p.V285M|CACNA1G_uc002irw.1_Missense_Mutation_p.V285M|CACNA1G_uc002iru.1_Missense_Mutation_p.V285M|CACNA1G_uc002irx.1_Missense_Mutation_p.V198M|CACNA1G_uc002iry.1_Missense_Mutation_p.V198M|CACNA1G_uc002irz.1_Missense_Mutation_p.V198M|CACNA1G_uc002isa.1_Missense_Mutation_p.V198M|CACNA1G_uc002isb.1_Missense_Mutation_p.V198M|CACNA1G_uc002isc.1_Missense_Mutation_p.V198M|CACNA1G_uc002isd.1_Missense_Mutation_p.V198M|CACNA1G_uc002ise.1_Missense_Mutation_p.V198M|CACNA1G_uc002isf.1_Missense_Mutation_p.V198M|CACNA1G_uc002isg.1_Missense_Mutation_p.V198M|CACNA1G_uc002ish.1_Missense_Mutation_p.V198M|CACNA1G_uc002isi.1_Missense_Mutation_p.V198M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	285	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCAGAAGCGTGCCCACGCT	0.632												
ABCC3	8714	broad.mit.edu	37	17	48736701	48736701	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48736701T>C	uc002isl.2	+	7	858	c.778T>C	c.(778-780)TGG>CGG	p.W260R	ABCC3_uc002isk.3_Missense_Mutation_p.W260R	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	260	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTGGAGGCATGGAGGAAGCA	0.617												
KIF2B	84643	broad.mit.edu	37	17	51901904	51901904	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:51901904C>T	uc002iua.2	+	1	1666	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ACTGGTGCTCCGGGACTCCTT	0.478												
CUEDC1	404093	broad.mit.edu	37	17	55962691	55962691	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:55962691C>T	uc002ivd.1	-	2	954	c.235G>A	c.(235-237)GCC>ACC	p.A79T	CUEDC1_uc002ive.1_Missense_Mutation_p.A79T	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	79	CUE.									skin(2)	2						TCGATGGTGGCGTCCACAGCG	0.622												
MPO	4353	broad.mit.edu	37	17	56350262	56350262	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56350262G>A	uc002ivu.1	-	10	1816	c.1639C>T	c.(1639-1641)CTC>TTC	p.L547F		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	547					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	AGGCCCCGGAGGATGGGGTCA	0.567												
MPO	4353	broad.mit.edu	37	17	56352929	56352929	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56352929G>A	uc002ivu.1	-	8	1516	c.1339C>T	c.(1339-1341)CGG>TGG	p.R447W		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	447			R -> Q (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.R447Q(1)		ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ACGATCTTCCGGGCTTCCTGG	0.443												
BZRAP1	9256	broad.mit.edu	37	17	56393891	56393891	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:56393891G>A	uc002ivx.3	-	15	2754	c.1883C>T	c.(1882-1884)GCC>GTC	p.A628V	BZRAP1_uc010dcs.2_Missense_Mutation_p.A568V|BZRAP1_uc010wnt.1_Missense_Mutation_p.A628V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	628						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCTCACTGGCTGTGTCCAC	0.632												
TRIM37	4591	broad.mit.edu	37	17	57126583	57126583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57126583C>A	uc002iwy.3	-	15	1930	c.1486G>T	c.(1486-1488)GAG>TAG	p.E496*	TRIM37_uc002iwz.3_Nonsense_Mutation_p.E496*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.E374*|TRIM37_uc010woc.1_Nonsense_Mutation_p.E462*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	496						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTTCATCCTCTTTGGCCTCT	0.393									Mulibrey_Nanism			
TRIM37	4591	broad.mit.edu	37	17	57158518	57158518	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57158518A>G	uc002iwy.3	-	6	876	c.432T>C	c.(430-432)AAT>AAC	p.N144N	TRIM37_uc002iwz.3_Silent_p.N144N|TRIM37_uc002ixa.3_Silent_p.N22N|TRIM37_uc010woc.1_Silent_p.N110N	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	144	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTACCTCTTCATTCACTTTAG	0.343									Mulibrey_Nanism			
PRR11	55771	broad.mit.edu	37	17	57247159	57247159	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:57247159G>A	uc002ixf.1	+	2	125	c.46G>A	c.(46-48)GAA>AAA	p.E16K	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	16										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCCAAAGCCGAAAGATTATT	0.338												
KCNH6	81033	broad.mit.edu	37	17	61622451	61622451	+	Silent	SNP	C	C	T	rs140681295		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:61622451C>T	uc002jay.2	+	13	2597	c.2517C>T	c.(2515-2517)CGC>CGT	p.R839R	KCNH6_uc010wpl.1_Silent_p.R680R|KCNH6_uc010wpm.1_Silent_p.R803R|KCNH6_uc002jaz.1_Silent_p.R750R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	839	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TGGAGTCCCGCGTGTCCTCAG	0.612												
CSH2	1443	broad.mit.edu	37	17	61949631	61949631	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:61949631C>T	uc002jch.2	-	5	624	c.509G>A	c.(508-510)AGC>AAC	p.S170N	CSH2_uc002jcg.2_Missense_Mutation_p.S75N|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.A169T|CSH2_uc002jck.2_Missense_Mutation_p.S170N	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	170					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						GTCAAACTTGCTGTAGGTCTG	0.547												
SCN4A	6329	broad.mit.edu	37	17	62018729	62018729	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:62018729C>T	uc002jds.1	-	24	4990	c.4913G>A	c.(4912-4914)AGC>AAC	p.S1638N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1638					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TGAGAGGCGGCTGTAGGCGAT	0.572												
OTOP2	92736	broad.mit.edu	37	17	72920768	72920768	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:72920768C>T	uc010wrp.1	+	3	130	c.41C>T	c.(40-42)CCG>CTG	p.P14L	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Missense_Mutation_p.P14L	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	14						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGAGCCCCCCGGCGCCGCGT	0.692												
OTOP3	347741	broad.mit.edu	37	17	72939797	72939797	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:72939797C>T	uc010wrr.1	+	5	783	c.783C>T	c.(781-783)GGC>GGT	p.G261G	OTOP3_uc010wrq.1_Silent_p.G243G	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	261						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGAGCTTGGCATCCTCATGG	0.448												
UNC13D	201294	broad.mit.edu	37	17	73831088	73831088	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:73831088G>T	uc002jpp.2	-	21	2285	c.1905C>A	c.(1903-1905)ACC>ACA	p.T635T	UNC13D_uc010wsk.1_Silent_p.T635T|UNC13D_uc002jpq.1_Silent_p.T285T	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	635	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCAAAGCAGGTGGATAGAT	0.587									Familial_Hemophagocytic_Lymphohistiocytosis			
EVPL	2125	broad.mit.edu	37	17	74004369	74004369	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:74004369C>T	uc002jqi.2	-	22	5145	c.4917G>A	c.(4915-4917)TCG>TCA	p.S1639S	EVPL_uc010wss.1_Silent_p.S1661S|EVPL_uc010wst.1_Silent_p.S1109S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1639	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTCCAGCCGCGAGAGCTCCT	0.677												
QRICH2	84074	broad.mit.edu	37	17	74300520	74300520	+	Silent	SNP	C	C	T	rs139449389	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:74300520C>T	uc002jrd.1	-	3	363	c.183G>A	c.(181-183)ACG>ACA	p.T61T	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	61							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						TCCAGCCGTCCGTAATCGCCT	0.592												
TK1	7083	broad.mit.edu	37	17	76171657	76171657	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76171657C>T	uc002juw.2	-	5	556	c.346G>A	c.(346-348)GGG>AGG	p.G116R	TK1_uc002jux.2_Missense_Mutation_p.G158R	NM_003258	NP_003249	P04183	KITH_HUMAN	thymidine kinase 1	116					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			ACGGTCTTCCCGGCGTTGGCC	0.592												
AFMID	125061	broad.mit.edu	37	17	76200772	76200772	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76200772C>T	uc002jva.3	+	5	359	c.344C>T	c.(343-345)ACG>ATG	p.T115M	AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.T115M	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	115						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CACCCGCTGACGGCACAGGGA	0.592												
USP36	57602	broad.mit.edu	37	17	76817075	76817075	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76817075G>A	uc002jvz.1	-	8	1151	c.826C>T	c.(826-828)CGG>TGG	p.R276W	USP36_uc002jwa.1_Missense_Mutation_p.R276W|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	276					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATCTGTACCCGGATCTCCAGC	0.552												
USP36	57602	broad.mit.edu	37	17	76825020	76825020	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:76825020C>T	uc002jvz.1	-	5	870	c.545G>A	c.(544-546)GGC>GAC	p.G182D	USP36_uc002jwa.1_Missense_Mutation_p.G182D|USP36_uc002jwd.1_Missense_Mutation_p.G182D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	182					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GATGGCGTTGCCGCTGTTGGC	0.443												
CCDC40	55036	broad.mit.edu	37	17	78013765	78013765	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78013765C>T	uc010dht.2	+	3	275	c.248C>T	c.(247-249)GCT>GTT	p.A83V	CCDC40_uc010wub.1_Missense_Mutation_p.A83V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	83					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.348												
RNF213	57674	broad.mit.edu	37	17	78323578	78323578	+	Silent	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78323578T>G	uc002jyh.1	+	5	4402	c.4179T>G	c.(4177-4179)ACT>ACG	p.T1393T		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)			AGATCACCACTTTCTCCAGGC	0.473												
CHMP6	79643	broad.mit.edu	37	17	78971093	78971093	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:78971093T>C	uc002jyw.3	+	6	525	c.447T>C	c.(445-447)ACT>ACC	p.T149T		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	149					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGCTTCACTCAGGAGGATG	0.627												
P4HB	5034	broad.mit.edu	37	17	79803557	79803557	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:79803557C>T	uc002kbn.1	-	9	1436	c.1239G>A	c.(1237-1239)ACG>ACA	p.T413T	P4HB_uc002kbl.1_Silent_p.T90T|P4HB_uc002kbm.1_Silent_p.T90T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	413	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GGTCCTTGTACGTCTCTCCCA	0.517												
RFNG	5986	broad.mit.edu	37	17	80007611	80007611	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:80007611A>G	uc002kdj.2	-	6	778	c.770T>C	c.(769-771)CTC>CCC	p.L257P	RFNG_uc002kdh.2_Missense_Mutation_p.L42P|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	radical fringe	257	Lumenal (Potential).				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			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)			AGAGTGGAAGAGGGGGCTGTG	0.662												
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:80684911G>A	uc002kfu.2	+	6	844	c.794G>A	c.(793-795)GGC>GAC	p.G265D	FN3KRP_uc010wvr.1_Missense_Mutation_p.G215D	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458).			kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502												
LAMA1	284217	broad.mit.edu	37	18	6978296	6978296	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:6978296G>A	uc002knm.2	-	43	6183	c.6089C>T	c.(6088-6090)GCG>GTG	p.A2030V	LAMA1_uc010wzj.1_Missense_Mutation_p.A1506V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2030	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.A2030A(1)		ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCAGCCCCGCCACGTCCCT	0.552												
PTPRM	5797	broad.mit.edu	37	18	8376108	8376108	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:8376108T>C	uc002knn.3	+	23	3700	c.3197T>C	c.(3196-3198)GTC>GCC	p.V1066A	PTPRM_uc010dkv.2_Missense_Mutation_p.V1079A|PTPRM_uc010wzl.1_Missense_Mutation_p.V853A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1066	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GATCATGGGGTCCCCTACCAT	0.577												
RALBP1	10928	broad.mit.edu	37	18	9517199	9517199	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:9517199A>G	uc002kob.2	+	3	824	c.601A>G	c.(601-603)ACC>GCC	p.T201A	RALBP1_uc002koc.2_Missense_Mutation_p.T201A	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	201	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						AGTAGAGAGGACCATGATGTA	0.423												
GNAL	2774	broad.mit.edu	37	18	11753646	11753646	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:11753646C>T	uc010dkz.2	+	4	484	c.238C>T	c.(238-240)CTG>TTG	p.L80L	GNAL_uc002kqc.2_Silent_p.L157L|GNAL_uc002kqd.2_Silent_p.L80L	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	80					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						ACAGAAAATTCTGGACATCCG	0.323												
RNMT	8731	broad.mit.edu	37	18	13741531	13741531	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:13741531G>A	uc002ksk.1	+	6	882	c.815G>A	c.(814-816)CGT>CAT	p.R272H	RNMT_uc002ksl.1_Missense_Mutation_p.R272H|RNMT_uc002ksm.1_Missense_Mutation_p.R272H|RNMT_uc010dlk.2_Missense_Mutation_p.R272H|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	272					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GACAAATTTCGTGACCCACAA	0.338												
MC5R	4161	broad.mit.edu	37	18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:13826447C>T	uc010xaf.1	+	1	683	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	228	Cytoplasmic (Potential).			ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						GCCAGCTCTGCGCGGCAGAGG	0.612												
ROCK1	6093	broad.mit.edu	37	18	18564452	18564452	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:18564452C>T	uc002kte.2	-	20	3290	c.2349G>A	c.(2347-2349)CGG>CGA	p.R783R		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	783	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTAACAACAGCCGCTTATTTG	0.313												
ROCK1	6093	broad.mit.edu	37	18	18586465	18586465	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:18586465A>G	uc002kte.2	-	16	2673	c.1732T>C	c.(1732-1734)TTA>CTA	p.L578L		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	578	Interaction with FHOD1.|Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					AGGGACTCTAACTGACTAATT	0.383												
NPC1	4864	broad.mit.edu	37	18	21131673	21131673	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:21131673A>G	uc002kum.3	-	10	1846	c.1572T>C	c.(1570-1572)AAT>AAC	p.N524N	NPC1_uc010xaz.1_Intron|NPC1_uc010xba.1_Silent_p.N369N	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	524					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACTTGTATCATTCAGAGAGG	0.438												
DSC3	1825	broad.mit.edu	37	18	28588412	28588412	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:28588412G>T	uc002kwj.3	-	10	1498	c.1343C>A	c.(1342-1344)CCC>CAC	p.P448H	DSC3_uc002kwi.3_Missense_Mutation_p.P448H	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	448	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCACTCTGGGAATATCTCT	0.438												
KIAA1012	22878	broad.mit.edu	37	18	29429625	29429625	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:29429625G>A	uc002kxc.3	-	25	4003	c.3639C>T	c.(3637-3639)CAC>CAT	p.H1213H	KIAA1012_uc002kxb.3_Silent_p.H1159H|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1213					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GCACAGGCAAGTGAGCTTGTG	0.353												
DTNA	1837	broad.mit.edu	37	18	32459614	32459614	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:32459614C>T	uc010dmn.1	+	19	2013	c.2012C>T	c.(2011-2013)GCG>GTG	p.A671V	DTNA_uc002kxw.2_Missense_Mutation_p.A614V|DTNA_uc010dmj.2_Missense_Mutation_p.A611V|DTNA_uc002kxz.2_Missense_Mutation_p.A618V|DTNA_uc002kxy.2_Missense_Mutation_p.A611V|DTNA_uc010xby.1_Missense_Mutation_p.A361V|DTNA_uc010xbz.1_Missense_Mutation_p.A380V|DTNA_uc010xca.1_Missense_Mutation_p.A323V|DTNA_uc002kye.2_Missense_Mutation_p.A319V	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	671					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						GCTTTTCTAGCGCAAATCCAT	0.478												
ZNF396	252884	broad.mit.edu	37	18	32954226	32954226	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:32954226G>A	uc010xcf.1	-	2	163	c.31C>T	c.(31-33)CTC>TTC	p.L11F		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	11					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTGTTAGGAGTGATGATGAC	0.458												
INO80C	125476	broad.mit.edu	37	18	33060460	33060460	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:33060460T>C	uc002kyy.3	-	2	341	c.224A>G	c.(223-225)GAA>GGA	p.E75G	INO80C_uc002kyw.1_Missense_Mutation_p.E75G|INO80C_uc002kyx.3_Missense_Mutation_p.E20G|INO80C_uc010dmt.2_Missense_Mutation_p.E111G	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	75					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						GGCAGCTTTTTCCACAGGTCC	0.413												
MOCOS	55034	broad.mit.edu	37	18	33800026	33800026	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:33800026G>A	uc002kzq.3	+	9	1829	c.1806G>A	c.(1804-1806)AGG>AGA	p.R602R		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	602					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AGGTGACCAGGTGGCCTGTAG	0.512												
CELF4	56853	broad.mit.edu	37	18	35145328	35145328	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:35145328T>C	uc002lae.2	-	1	673	c.277A>G	c.(277-279)ATG>GTG	p.M93V	CELF4_uc010dnd.1_Missense_Mutation_p.M93V|CELF4_uc002lag.2_Missense_Mutation_p.M93V|CELF4_uc002laf.2_Missense_Mutation_p.M89V|CELF4_uc002lai.2_Missense_Mutation_p.M89V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	93	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CCTTTGTGCATGCCTGTGAAC	0.617												
ST8SIA5	29906	broad.mit.edu	37	18	44260101	44260101	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:44260101G>A	uc002lcj.1	-	7	1603	c.1035C>T	c.(1033-1035)CCC>CCT	p.P345P	ST8SIA5_uc002lci.1_Silent_p.P192P|ST8SIA5_uc010xcy.1_Silent_p.P381P|ST8SIA5_uc010xcz.1_Silent_p.P314P	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	345	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CGTGGAAGCCGGGACGCGGCT	0.607												
ZBTB7C	201501	broad.mit.edu	37	18	45567233	45567233	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:45567233A>G	uc002lda.2	-	1	262	c.246T>C	c.(244-246)CCT>CCC	p.P82P	ZBTB7C_uc002ldb.2_Silent_p.P82P|ZBTB7C_uc010dnu.2_Silent_p.P91P|ZBTB7C_uc010dnv.2_Silent_p.P104P|ZBTB7C_uc010dnw.2_Silent_p.P82P|ZBTB7C_uc010dnx.1_Silent_p.P82P|ZBTB7C_uc010dny.1_Silent_p.P82P|ZBTB7C_uc010dnz.1_Silent_p.P104P|ZBTB7C_uc010dob.1_Silent_p.P82P|ZBTB7C_uc010doc.1_Silent_p.P91P|ZBTB7C_uc010dod.1_Silent_p.P104P|ZBTB7C_uc010doe.1_Silent_p.P82P|ZBTB7C_uc010dof.1_Silent_p.P82P|ZBTB7C_uc010dog.1_Silent_p.P82P|ZBTB7C_uc010doh.1_Silent_p.P91P|ZBTB7C_uc010doi.1_Silent_p.P82P|ZBTB7C_uc010doj.1_Silent_p.P91P|ZBTB7C_uc010dok.1_Silent_p.P131P|ZBTB7C_uc010dol.1_Silent_p.P91P|ZBTB7C_uc010doa.1_Silent_p.P104P|ZBTB7C_uc010don.1_Silent_p.P90P|ZBTB7C_uc010doo.1_Silent_p.P82P|ZBTB7C_uc010dop.1_Silent_p.P82P|ZBTB7C_uc010doq.1_Silent_p.P91P|ZBTB7C_uc010dor.1_Silent_p.P104P|ZBTB7C_uc010dos.1_Silent_p.P82P|ZBTB7C_uc010dot.1_Silent_p.P82P|ZBTB7C_uc010dou.1_Silent_p.P91P|ZBTB7C_uc010dom.1_Silent_p.P91P	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	82	BTB.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CCAGAGCCTCAGGCTGGACAA	0.582												
KIAA0427	9811	broad.mit.edu	37	18	46287807	46287807	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:46287807A>G	uc002ldc.2	+	9	1403	c.1118A>G	c.(1117-1119)GAC>GGC	p.D373G	KIAA0427_uc002ldd.2_Missense_Mutation_p.D375G|KIAA0427_uc002lde.3_Missense_Mutation_p.D2G	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	373					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AACAAGATGGACAAGCTGATC	0.572												
ME2	4200	broad.mit.edu	37	18	48473427	48473427	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:48473427A>G	uc002ley.2	+	16	1884	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	ME2_uc010dpd.2_3'UTR	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	543					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GCTTTCCGATACCCAGAACCT	0.393												
TCF4	6925	broad.mit.edu	37	18	52896116	52896116	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:52896116G>A	uc002lfz.2	-	18	2441	c.1829C>T	c.(1828-1830)GCG>GTG	p.A610V	TCF4_uc002lfw.3_Missense_Mutation_p.A454V|TCF4_uc010xdu.1_Missense_Mutation_p.A480V|TCF4_uc010xdv.1_Missense_Mutation_p.A480V|TCF4_uc002lfx.2_Missense_Mutation_p.A543V|TCF4_uc010xdw.1_Missense_Mutation_p.A480V|TCF4_uc002lfy.2_Missense_Mutation_p.A568V|TCF4_uc010xdx.1_Missense_Mutation_p.A586V|TCF4_uc010dph.1_Missense_Mutation_p.A614V|TCF4_uc010xdy.1_Missense_Mutation_p.A590V|TCF4_uc002lga.2_Missense_Mutation_p.A716V|TCF4_uc002lgb.1_Missense_Mutation_p.A450V|TCF4_uc010dpi.2_Missense_Mutation_p.A620V|TCF4_uc002lfv.2_Missense_Mutation_p.A393V	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	610	Helix-loop-helix motif.		A -> V (in PTHS; loss of function).		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)		GACGGCCACCGCCTGGTGGAG	0.607												
CDH20	28316	broad.mit.edu	37	18	59157872	59157872	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:59157872C>T	uc010dps.1	+	1	98	c.86C>T	c.(85-87)ACG>ATG	p.T29M	CDH20_uc002lif.2_Missense_Mutation_p.T23M	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				ATGGACCTTACGACCACCGTT	0.522												
CDH20	28316	broad.mit.edu	37	18	59166434	59166434	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:59166434G>A	uc010dps.1	+	2	274	c.262G>A	c.(262-264)GAC>AAC	p.D88N	CDH20_uc002lif.2_Missense_Mutation_p.D82N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	88	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTCAGATATGGACAGGGGAGA	0.453												
DOK6	220164	broad.mit.edu	37	18	67345077	67345077	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:67345077C>T	uc002lkl.2	+	4	587	c.397C>T	c.(397-399)CGG>TGG	p.R133W		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	133	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGTGCAGCGGGAACAGAA	0.443												
GALR1	2587	broad.mit.edu	37	18	74962947	74962947	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:74962947T>C	uc002lms.3	+	1	940	c.443T>C	c.(442-444)GTG>GCG	p.V148A		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	148	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCCCTCAGGGTGTCCCGCAAC	0.692												
SHC2	25759	broad.mit.edu	37	19	422188	422188	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:422188G>A	uc002loq.3	-	11	1578	c.1578C>T	c.(1576-1578)GCC>GCT	p.A526A	SHC2_uc002lop.3_Silent_p.A267A	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	526	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TGGGCTGCCCGGCGTGCATGC	0.687												
HCN2	610	broad.mit.edu	37	19	608088	608088	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:608088T>C	uc002lpe.2	+	4	1396	c.1343T>C	c.(1342-1344)ATG>ACG	p.M448T		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	448	Helical; Name=Segment S6; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCTCAGCATGATTGTGGGT	0.622												
HMHA1	23526	broad.mit.edu	37	19	1079757	1079757	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:1079757A>G	uc002lqz.1	+	12	1661	c.1430A>G	c.(1429-1431)AAG>AGG	p.K477R	HMHA1_uc010xgd.1_Missense_Mutation_p.K493R|HMHA1_uc010xge.1_Missense_Mutation_p.K317R|HMHA1_uc002lra.1_Missense_Mutation_p.K317R|HMHA1_uc002lrb.1_Missense_Mutation_p.K360R|HMHA1_uc002lrc.1_Missense_Mutation_p.K112R	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	477	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACGCAGAAGCAGGAGCTG	0.682												
AP3D1	8943	broad.mit.edu	37	19	2118661	2118661	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2118661T>G	uc002luz.2	-	15	1875	c.1652A>C	c.(1651-1653)CAG>CCG	p.Q551P	AP3D1_uc002luy.2_Missense_Mutation_p.Q460P|AP3D1_uc002lva.2_Missense_Mutation_p.Q551P	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	551	HEAT 11.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCATGAGCTGGGTGACGGC	0.642												
TLE6	79816	broad.mit.edu	37	19	2989687	2989687	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2989687A>G	uc002lwu.2	+	12	1179	c.779A>G	c.(778-780)CAG>CGG	p.Q260R	TLE6_uc002lwt.2_Missense_Mutation_p.Q383R|TLE6_uc010dtg.2_Missense_Mutation_p.Q383R|TLE6_uc002lwv.2_Missense_Mutation_p.Q164R	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	260	WD 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAACTGCCAGGCcctggat	0.552												
TLE6	79816	broad.mit.edu	37	19	2991983	2991983	+	Splice_Site	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:2991983G>A	uc002lwu.2	+	13	1417	c.1017_splice	c.e13+1	p.Q339_splice	TLE6_uc002lwt.2_Splice_Site_p.Q462_splice|TLE6_uc010dtg.2_Splice_Site_p.Q462_splice|TLE6_uc002lwv.2_Splice_Site_p.Q243_splice	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2						regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTCTCAGGTGCGGAGGCC	0.473												
UBXN6	80700	broad.mit.edu	37	19	4447552	4447552	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:4447552A>G	uc002man.1	-	6	706	c.610T>C	c.(610-612)TTT>CTT	p.F204L	UBXN6_uc010dty.1_Missense_Mutation_p.F108L|UBXN6_uc002mam.1_Missense_Mutation_p.F151L	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	204	PUB.					microtubule organizing center|nucleus	protein binding				0						CCCACCTGAAACACCTTGTTC	0.672												
PRR22	163154	broad.mit.edu	37	19	5784292	5784292	+	Translation_Start_Site	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:5784292C>A	uc002mdb.1	-	1	319	c.-40G>T	c.(-42--38)AAGGC>AATGC		PRR22_uc010xiv.1_Intron	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2												0						GAGGCCATGCCTTCAGGCTCC	0.617												
CLPP	8192	broad.mit.edu	37	19	6364536	6364536	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6364536C>T	uc002mem.1	+	4	564	c.441C>T	c.(439-441)TGC>TGT	p.C147C	CLPP_uc002men.1_5'Flank	NM_006012	NP_006003	Q16740	CLPP_HUMAN	caseinolytic peptidase, ATP-dependent,	147					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			ovary(1)	1						GCACCTGGTGCGTGGGCCAGG	0.677												
C3	718	broad.mit.edu	37	19	6697473	6697473	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6697473G>A	uc002mfm.2	-	21	2740	c.2678C>T	c.(2677-2679)TCG>TTG	p.S893L		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	893					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGGACAACGAGGACTTGGG	0.572												
SH2D3A	10045	broad.mit.edu	37	19	6755214	6755214	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6755214C>T	uc002mft.2	-	5	803	c.609G>A	c.(607-609)GGG>GGA	p.G203G	SH2D3A_uc010xjg.1_Silent_p.G81G	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	203					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CTTGAAGCTGCCCATCGGAGG	0.647												
VAV1	7409	broad.mit.edu	37	19	6833612	6833612	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6833612C>T	uc002mfu.1	+	17	1781	c.1684C>T	c.(1684-1686)CCT>TCT	p.P562S	VAV1_uc010xjh.1_Missense_Mutation_p.P530S|VAV1_uc010dva.1_Missense_Mutation_p.P562S|VAV1_uc002mfv.1_Missense_Mutation_p.P507S	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	562	Phorbol-ester/DAG-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						GGGGAGGGTCCCTCCATGTGG	0.567												
EMR1	2015	broad.mit.edu	37	19	6926447	6926447	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6926447A>G	uc002mfw.2	+	16	2095	c.2057A>G	c.(2056-2058)GAG>GGG	p.E686G	EMR1_uc010dvc.2_Missense_Mutation_p.E621G|EMR1_uc010dvb.2_Missense_Mutation_p.E634G|EMR1_uc010xji.1_Missense_Mutation_p.E545G|EMR1_uc010xjj.1_Missense_Mutation_p.E509G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	686	Helical; Name=3; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					ATGCTGGTGGAGGCTGTGATA	0.522												
EMR1	2015	broad.mit.edu	37	19	6926611	6926611	+	Missense_Mutation	SNP	C	C	T	rs149410886		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:6926611C>T	uc002mfw.2	+	16	2259	c.2221C>T	c.(2221-2223)CGC>TGC	p.R741C	EMR1_uc010dvc.2_Missense_Mutation_p.R676C|EMR1_uc010dvb.2_Missense_Mutation_p.R689C|EMR1_uc010xji.1_Missense_Mutation_p.R600C|EMR1_uc010xjj.1_Missense_Mutation_p.R564C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	741	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AATGCATAATCGGTGAGTGAC	0.502												
INSR	3643	broad.mit.edu	37	19	7167978	7167978	+	Splice_Site	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7167978C>T	uc002mgd.1	-	7	1719	c.1610_splice	c.e7+1	p.A537_splice	INSR_uc002mge.1_Splice_Site_p.A537_splice|INSR_uc002mgf.2_Splice_Site_p.A537_splice	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor						activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCTACTTACGCCTCTTTGT	0.537												
XAB2	56949	broad.mit.edu	37	19	7685199	7685199	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7685199G>A	uc002mgx.2	-	16	2254	c.2228C>T	c.(2227-2229)TCG>TTG	p.S743L		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	743					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GAGCATCTGCGAGGCCATGAA	0.627								Direct_reversal_of_damage|NER				
CLEC4M	10332	broad.mit.edu	37	19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:7830088G>A	uc002mih.2	+	3	266	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50T|CLEC4M_uc002mic.2_Missense_Mutation_p.A22T|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	50	Helical; Signal-anchor for type II membrane protein; (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						TGGCCATGGCGCCCTGGTGCT	0.632												
FBN3	84467	broad.mit.edu	37	19	8190894	8190894	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8190894G>A	uc002mjf.2	-	21	2634	c.2613C>T	c.(2611-2613)AAC>AAT	p.N871N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	871	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ACTCACACTCGTTCACATCTG	0.617												
KANK3	256949	broad.mit.edu	37	19	8389521	8389521	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8389521A>G	uc010dwa.2	-	9	2342	c.2276T>C	c.(2275-2277)CTG>CCG	p.L759P		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	759											0						TACATTGTCCAGGATGGCAGG	0.632												
PRAM1	84106	broad.mit.edu	37	19	8555592	8555592	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:8555592C>T	uc002mkd.2	-	7	1812	c.1792G>A	c.(1792-1794)GCT>ACT	p.A598T	PRAM1_uc002mkc.2_Missense_Mutation_p.A597T	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	646	SH3.						lipid binding|protein binding				0						CGTGTCTTAGCGTTGGGGTCG	0.622												
MUC16	94025	broad.mit.edu	37	19	9056251	9056251	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9056251T>C	uc002mkp.2	-	3	31399	c.31195A>G	c.(31195-31197)ACC>GCC	p.T10399A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10401	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						GTCATTCTGGTATCCAAAATG	0.493												
MUC16	94025	broad.mit.edu	37	19	9063262	9063262	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9063262C>T	uc002mkp.2	-	3	24388	c.24184G>A	c.(24184-24186)GGG>AGG	p.G8062R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8064	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						CTGGAGGTCCCCACATCGGTC	0.463												
MUC16	94025	broad.mit.edu	37	19	9070331	9070331	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9070331C>T	uc002mkp.2	-	3	17319	c.17115G>A	c.(17113-17115)GCG>GCA	p.A5705A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5707	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						CTTCTGTGTGCGCAGTGTCTT	0.507												
COL5A3	50509	broad.mit.edu	37	19	10090070	10090070	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10090070C>T	uc002mmq.1	-	38	2822	c.2736G>A	c.(2734-2736)CCG>CCA	p.P912P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	912	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTGGTCCAGGCGGGCCTGTCT	0.542												
KRI1	65095	broad.mit.edu	37	19	10665838	10665838	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10665838T>C	uc002moy.1	-	18	1733	c.1724A>G	c.(1723-1725)GAC>GGC	p.D575G	KRI1_uc002mow.1_Missense_Mutation_p.D194G|KRI1_uc002mox.1_Missense_Mutation_p.D571G	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	575										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCGCTTGTCCCGCAGCTC	0.527												
AP1M2	10053	broad.mit.edu	37	19	10692430	10692430	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:10692430A>G	uc002mpc.2	-	4	476	c.392T>C	c.(391-393)CTG>CCG	p.L131P	AP1M2_uc002mpd.2_Missense_Mutation_p.L131P	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	131					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TCACTCCTGCAGGATCTTGCT	0.602												
SMARCA4	6597	broad.mit.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:11132513C>T	uc002mqf.3	+	19	3013	c.2729C>T	c.(2728-2730)ACG>ATG	p.T910M	SMARCA4_uc010dxp.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxo.2_Missense_Mutation_p.T910M|SMARCA4_uc002mqg.1_Missense_Mutation_p.T910M|SMARCA4_uc010dxq.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxr.2_Missense_Mutation_p.T910M|SMARCA4_uc002mqj.3_Missense_Mutation_p.T910M|SMARCA4_uc010dxs.2_Missense_Mutation_p.T910M|SMARCA4_uc010dxt.1_Missense_Mutation_p.T130M|SMARCA4_uc002mqh.3_Missense_Mutation_p.T33M|SMARCA4_uc002mqi.1_Missense_Mutation_p.T113M	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	910	Helicase ATP-binding.				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	p.T910M(1)|p.?(1)		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)				CTGCTGCTGACGGGCACACCG	0.592			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
DOCK6	57572	broad.mit.edu	37	19	11348926	11348926	+	Silent	SNP	G	G	A	rs117437635	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:11348926G>A	uc002mqs.3	-	15	1739	c.1698C>T	c.(1696-1698)TCC>TCT	p.S566S	DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Silent_p.T36T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	566	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GGTTGCGCACGGAGCCCTGGC	0.662												
ZNF442	79973	broad.mit.edu	37	19	12461253	12461253	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12461253A>G	uc002mtr.1	-	6	1757	c.1146T>C	c.(1144-1146)TGT>TGC	p.C382C	ZNF442_uc010xmk.1_Silent_p.C313C	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	382	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						ACGCTTTCCCACACTGCTTGC	0.413												
MAN2B1	4125	broad.mit.edu	37	19	12776537	12776537	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12776537A>G	uc002mub.2	-	2	318	c.242T>C	c.(241-243)GTG>GCG	p.V81A	MAN2B1_uc010dyv.1_Missense_Mutation_p.V81A|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	81					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GTACTGGTCCACGGTTTTGAG	0.577												
DHPS	1725	broad.mit.edu	37	19	12792443	12792443	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:12792443C>T	uc002muh.1	-	1	235	c.138G>A	c.(136-138)CTG>CTA	p.L46L	DHPS_uc002muf.1_5'Flank|DHPS_uc002mug.1_5'Flank|DHPS_uc002mui.1_Silent_p.L46L|DHPS_uc002muj.1_Silent_p.L46L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	46					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	CGAAGGCCTCCAGCAGTGCGC	0.637												
BRD4	23476	broad.mit.edu	37	19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:15350213G>A	uc002nar.2	-	17	3788	c.3566C>T	c.(3565-3567)GCG>GTG	p.A1189V		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1189					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627			T	NUT|C15orf55	lethal midline carcinoma of young people							
CYP4F11	57834	broad.mit.edu	37	19	16038108	16038108	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:16038108G>A	uc002nbu.2	-	5	475	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	CYP4F11_uc010eab.1_Missense_Mutation_p.H147Y|CYP4F11_uc002nbt.2_Missense_Mutation_p.H147Y	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	147					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						ATCCGACGGTGGCGGCTCCAC	0.527												
TMEM38A	79041	broad.mit.edu	37	19	16790827	16790827	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:16790827G>A	uc002nes.2	+	2	248	c.157G>A	c.(157-159)GCG>ACG	p.A53T		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.A53V(1)		central_nervous_system(2)|ovary(1)	3						CCACCCCATCGCGTCCTGGCT	0.602												
MYO9B	4650	broad.mit.edu	37	19	17311596	17311596	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:17311596C>T	uc010eak.2	+	26	4673	c.4521C>T	c.(4519-4521)AAC>AAT	p.N1507N	MYO9B_uc002nfi.2_Silent_p.N1507N|MYO9B_uc002nfj.1_Silent_p.N1507N|MYO9B_uc002nfl.1_Silent_p.N56N	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1507	Tail.				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						AGATCACCAACGCCAATGAGC	0.567												
ARRDC2	27106	broad.mit.edu	37	19	18121388	18121388	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:18121388T>C	uc002nhv.2	+	7	1163	c.1020T>C	c.(1018-1020)CCT>CCC	p.P340P	ARRDC2_uc002nhu.2_Silent_p.P335P	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	340										pancreas(1)	1						CAGCTCCTCCTGAGTACTCGG	0.657												
IL12RB1	3594	broad.mit.edu	37	19	18187108	18187108	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:18187108A>G	uc002nhw.1	-	6	643	c.579T>C	c.(577-579)ACT>ACC	p.T193T	IL12RB1_uc010xqb.1_Silent_p.T193T|IL12RB1_uc002nhx.1_Silent_p.T233T|IL12RB1_uc002nhy.2_Silent_p.T193T	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	193	Extracellular (Potential).|Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TATTCTCACCAGTATCATCAT	0.254												
DDX49	54555	broad.mit.edu	37	19	19033456	19033456	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:19033456C>T	uc002nkq.1	+	6	736	c.679C>T	c.(679-681)CCT>TCT	p.P227S	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.P120S|DDX49_uc002nkt.1_Missense_Mutation_p.P109S	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	227	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			CCTGCTGGTGCCTGAGAAGGT	0.597												
RFXANK	8625	broad.mit.edu	37	19	19310005	19310005	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:19310005C>T	uc002nls.2	+	9	1179	c.674C>T	c.(673-675)ACC>ATC	p.T225I	RFXANK_uc002nlt.2_Missense_Mutation_p.T202I|RFXANK_uc002nlu.2_Missense_Mutation_p.T203I|RFXANK_uc002nlv.2_Missense_Mutation_p.T225I|RFXANK_uc002nlw.2_Missense_Mutation_p.T224I	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	225	ANK 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			TCTGGCTACACCCCGATGGAC	0.647												
ZNF626	199777	broad.mit.edu	37	19	20829108	20829108	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:20829108T>C	uc002npb.1	-	2	257	c.107A>G	c.(106-108)AAC>AGC	p.N36S	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.N36S	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTTACTGTAGTTCTCTAACAT	0.353												
ZNF257	113835	broad.mit.edu	37	19	22271691	22271691	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:22271691C>A	uc010ecx.2	+	4	1308	c.1139C>A	c.(1138-1140)GCC>GAC	p.A380D	ZNF257_uc010ecy.2_Missense_Mutation_p.A348D	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTGGAAAAGCCTTTAACCGG	0.378												
ZNF91	7644	broad.mit.edu	37	19	23557475	23557475	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:23557475A>C	uc002nre.2	-	2	235	c.122T>G	c.(121-123)GTG>GGG	p.V41G	ZNF91_uc010xrj.1_Missense_Mutation_p.V41G	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	41	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTCTAACATCACATTCCTATA	0.363												
ZNF681	148213	broad.mit.edu	37	19	23938230	23938230	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:23938230A>C	uc002nrk.3	-	2	269	c.127T>G	c.(127-129)TTG>GTG	p.L43V	ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCCTCACCCAAGAAGACCAGG	0.348												
TSHZ3	57616	broad.mit.edu	37	19	31768228	31768228	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:31768228G>A	uc002nsy.3	-	2	2536	c.2471C>T	c.(2470-2472)ACG>ATG	p.T824M		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	824					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TGTCTTTGCCGTTGTCACCGT	0.522												
MAG	4099	broad.mit.edu	37	19	35786830	35786830	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:35786830C>A	uc002nyy.1	+	4	510	c.361C>A	c.(361-363)CTG>ATG	p.L121M	MAG_uc002nyx.1_Missense_Mutation_p.L121M|MAG_uc010eds.1_Missense_Mutation_p.L96M|MAG_uc002nyz.1_Missense_Mutation_p.L121M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	121	Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGTGGGGACCTGGGCGGCTA	0.667												
SIPA1L3	23094	broad.mit.edu	37	19	38572756	38572756	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:38572756C>T	uc002ohk.2	+	3	1060	c.551C>T	c.(550-552)GCG>GTG	p.A184V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	184					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)			GCGGAGGACGCGGGGGAGCCG	0.741												
SUPT5H	6829	broad.mit.edu	37	19	39949688	39949688	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:39949688T>C	uc002olo.3	+	7	612	c.433T>C	c.(433-435)TAC>CAC	p.Y145H	SUPT5H_uc002olp.3_Missense_Mutation_p.Y145H|SUPT5H_uc002olq.3_Missense_Mutation_p.Y141H|SUPT5H_uc002oln.3_Missense_Mutation_p.Y145H|SUPT5H_uc002olr.3_Missense_Mutation_p.Y145H	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	145					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATGAAGAAATACGCCAAGTC	0.582												
SPTBN4	57731	broad.mit.edu	37	19	41063263	41063263	+	Missense_Mutation	SNP	G	G	A	rs145142511		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:41063263G>A	uc002ony.2	+	26	5710	c.5624G>A	c.(5623-5625)CGG>CAG	p.R1875Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R1875Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R1875Q|SPTBN4_uc010egx.2_Missense_Mutation_p.R618Q|SPTBN4_uc002ooa.2_Missense_Mutation_p.R551Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1875	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCATGCAGCGGACCCTGAGA	0.682												
ADCK4	79934	broad.mit.edu	37	19	41198161	41198161	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:41198161C>T	uc002oor.2	-	15	1716	c.1414G>A	c.(1414-1416)GTG>ATG	p.V472M	NUMBL_uc010xvq.1_5'Flank|NUMBL_uc002oon.2_5'Flank|NUMBL_uc002ooo.2_5'Flank|NUMBL_uc010xvr.1_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.V149M|ADCK4_uc002ooq.1_Missense_Mutation_p.V431M	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	472						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCAGCAGCACCGGGATGAGG	0.677												
ATP1A3	478	broad.mit.edu	37	19	42492227	42492227	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:42492227G>A	uc002osg.2	-	4	372	c.218C>T	c.(217-219)CCG>CTG	p.P73L	ATP1A3_uc010xwf.1_Missense_Mutation_p.P84L|ATP1A3_uc010xwg.1_Missense_Mutation_p.P43L|ATP1A3_uc010xwh.1_Missense_Mutation_p.P86L|ATP1A3_uc002osh.2_Missense_Mutation_p.P73L	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	73	Interaction with phosphoinositide-3 kinase (By similarity).|Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGTGGTAGGCGGTGGCGTGAG	0.627												
CD177	57126	broad.mit.edu	37	19	43866319	43866319	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:43866319C>T	uc002owi.2	+	10	1203	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	387					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				CCAGACAAATCGGGATCTTCT	0.587												
TEX101	83639	broad.mit.edu	37	19	43920324	43920324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:43920324G>A	uc010xwo.1	+	3	333	c.138G>A	c.(136-138)TGG>TGA	p.W46*	TEX101_uc002owk.2_Nonsense_Mutation_p.W64*	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 2	46						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)				TGTTTAACTGGACCACAGAGG	0.463												
ZNF404	342908	broad.mit.edu	37	19	44377018	44377018	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:44377018G>A	uc002oxs.3	-	2	1348	c.1339C>T	c.(1339-1341)CTT>TTT	p.L447F		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	450	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAGAATTAAGTCTAAAGGTT	0.378												
ZNF155	7711	broad.mit.edu	37	19	44495769	44495769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:44495769C>T	uc002oxy.1	+	3	290	c.85C>T	c.(85-87)CAG>TAG	p.Q29*	ZNF155_uc002oxz.1_Nonsense_Mutation_p.Q29*|ZNF155_uc010xwt.1_Nonsense_Mutation_p.Q40*	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	29	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GGACCCTGCCCAGAGGAAGCT	0.532												
RELB	5971	broad.mit.edu	37	19	45525310	45525310	+	Splice_Site	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45525310G>A	uc002paj.1	+	6	631	c.505_splice	c.e6-1	p.L169_splice		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCTTCCTGCAGCTCCGGGATT	0.637												
MARK4	57787	broad.mit.edu	37	19	45797677	45797677	+	Missense_Mutation	SNP	G	G	A	rs146014354		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45797677G>A	uc002pbb.1	+	14	1570	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	MARK4_uc002pba.1_Missense_Mutation_p.R522H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	522					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGGCTGAGCGCCCGTCACTG	0.587												
PPP1R13L	10848	broad.mit.edu	37	19	45901550	45901550	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45901550C>T	uc002pbn.2	-	2	104	c.27G>A	c.(25-27)GCG>GCA	p.A9A	PPP1R13L_uc002pbo.2_Silent_p.A9A|PPP1R13L_uc002pbp.2_Silent_p.A9A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	9					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GAAAGTCCCGCGCGCTCTGGA	0.711												
RTN2	6253	broad.mit.edu	37	19	45997881	45997881	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:45997881C>A	uc002pcb.2	-	3	690	c.462G>T	c.(460-462)ACG>ACT	p.T154T	RTN2_uc002pcc.2_Silent_p.T154T|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	154						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCCGGATCCCGTTCCCCGGG	0.642												
FBXO46	23403	broad.mit.edu	37	19	46216164	46216164	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46216164G>A	uc002pcy.2	-	2	715	c.590C>T	c.(589-591)GCG>GTG	p.A197V	FBXO46_uc002pcz.2_Missense_Mutation_p.A197V	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	197							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GACTACAGGCGCTGGGGTGGT	0.687												
PGLYRP1	8993	broad.mit.edu	37	19	46522784	46522784	+	Missense_Mutation	SNP	C	C	A	rs143499039	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46522784C>A	uc002pdx.1	-	2	453	c.409G>T	c.(409-411)GAT>TAT	p.D137Y		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	137					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGTCACTCACCCATGTAGTTG	0.602												
PNMAL2	57469	broad.mit.edu	37	19	46997605	46997605	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46997605C>T	uc002pes.2	-	1	1565	c.1118G>A	c.(1117-1119)CGA>CAA	p.R373Q	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	373										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CAAGACCTGTCGGAGGGGGTC	0.647												
PPFIA3	8541	broad.mit.edu	37	19	49643262	49643262	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:49643262G>A	uc002pmr.2	+	18	2617	c.2285G>A	c.(2284-2286)AGC>AAC	p.S762N	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S630N|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	762						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AAGAAGAAGAGCATCAAGTCA	0.552												
TEAD2	8463	broad.mit.edu	37	19	49863248	49863248	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:49863248C>T	uc002pnj.2	-	2	176	c.85G>A	c.(85-87)GGC>AGC	p.G29S	TEAD2_uc002png.2_Missense_Mutation_p.G29S|TEAD2_uc002pnh.2_Missense_Mutation_p.G29S|TEAD2_uc002pni.2_Missense_Mutation_p.G29S|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G29S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	29					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCTCACTGCCGCCGGTACCC	0.701												
MYH14	79784	broad.mit.edu	37	19	50720986	50720986	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:50720986G>A	uc002prr.1	+	3	567	c.520G>A	c.(520-522)GTG>ATG	p.V174M	MYH14_uc010enu.1_Missense_Mutation_p.V174M|MYH14_uc002prq.1_Missense_Mutation_p.V174M	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	174	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCACCCCACGTGTACGCAGT	0.617												
POLD1	5424	broad.mit.edu	37	19	50918172	50918172	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:50918172A>G	uc002psb.3	+	20	2545	c.2489A>G	c.(2488-2490)GAG>GGG	p.E830G	POLD1_uc002psc.3_Missense_Mutation_p.E830G|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.E856G	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	830					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AAGGGCCTGGAGGCCGTGCGC	0.617								DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRC4B	94030	broad.mit.edu	37	19	51022368	51022368	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51022368G>A	uc002pss.2	-	3	739	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	201	LRR 5.|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)		CTCGAAGGCCGCCTCCGAGAT	0.657												
C19orf48	84798	broad.mit.edu	37	19	51301392	51301392	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51301392A>G	uc002ptf.2	-	5	1236	c.314T>C	c.(313-315)GTG>GCG	p.V105A	C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.V105A	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	105										ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCTGCTTCACCCCTGGAGC	0.612												
SIGLEC8	27181	broad.mit.edu	37	19	51958778	51958778	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:51958778C>A	uc002pwt.2	-	4	1012	c.945G>T	c.(943-945)CTG>CTT	p.L315L	SIGLEC8_uc010yda.1_Silent_p.L206L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.L222L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	315	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCACTCGAGGCAGCTCCAGCA	0.632												
ZNF614	80110	broad.mit.edu	37	19	52519952	52519952	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:52519952C>T	uc002pyj.2	-	5	1301	c.899G>A	c.(898-900)CGC>CAC	p.R300H	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.R3H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	300	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AATTAGATAGCGCTTCATTGT	0.408												
ZNF528	84436	broad.mit.edu	37	19	52919773	52919773	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:52919773A>C	uc002pzh.2	+	7	2094	c.1668A>C	c.(1666-1668)AAA>AAC	p.K556N	ZNF528_uc002pzi.2_Missense_Mutation_p.K323N	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	556	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGGCAAAGCATTTCGAG	0.398												
ZNF761	388561	broad.mit.edu	37	19	53959611	53959611	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:53959611G>A	uc010eqp.2	+	7	2308	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	ZNF761_uc010ydy.1_Missense_Mutation_p.R563Q|ZNF761_uc002qbt.1_Missense_Mutation_p.R563Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	617	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACCTTCAGTCGGACGTCATCC	0.393												
LILRA1	11024	broad.mit.edu	37	19	55106591	55106591	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55106591G>C	uc002qgh.1	+	5	567	c.385G>C	c.(385-387)GCT>CCT	p.A129P	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.A129P	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	129	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CACCCTCTCAGCTCTACCCAG	0.557												
NCR1	9437	broad.mit.edu	37	19	55420813	55420813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55420813C>T	uc002qib.2	+	4	603	c.565C>T	c.(565-567)CGA>TGA	p.R189*	NCR1_uc002qic.2_Nonsense_Mutation_p.R189*|NCR1_uc002qie.2_Nonsense_Mutation_p.R189*|NCR1_uc002qid.2_Nonsense_Mutation_p.R94*|NCR1_uc002qif.2_Nonsense_Mutation_p.R94*|NCR1_uc010esj.2_Nonsense_Mutation_p.R82*	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	189	Extracellular (Potential).|Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		AGGGACATACCGATGTTTTGG	0.587												
GP6	51206	broad.mit.edu	37	19	55530062	55530062	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55530062C>T	uc002qik.2	-	6	710	c.682G>A	c.(682-684)GCT>ACT	p.A228T	GP6_uc002qil.2_Missense_Mutation_p.A228T|GP6_uc010esq.2_Missense_Mutation_p.A210T	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	228	Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GTCAGTTCAGCGGTGGCTTCT	0.458												
ISOC2	79763	broad.mit.edu	37	19	55966630	55966630	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:55966630C>T	uc002qlb.2	-	4	590	c.416G>A	c.(415-417)CGC>CAC	p.R139H	ISOC2_uc002qla.2_Missense_Mutation_p.R155H|ISOC2_uc002qlc.2_Missense_Mutation_p.R69H	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	139					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CTCTCACCTGCGTGAGGAGCA	0.687												
ZNF524	147807	broad.mit.edu	37	19	56114077	56114077	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56114077G>A	uc002qlk.1	+	2	682	c.599G>A	c.(598-600)TGC>TAC	p.C200Y	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	200	C2H2-type 4.				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)		CCGTACCAGTGCCCCATCTGC	0.726												
ZNF784	147808	broad.mit.edu	37	19	56133447	56133447	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56133447G>A	uc002qll.1	-	2	656	c.642C>T	c.(640-642)CAC>CAT	p.H214H	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	214	C2H2-type 4.				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)		GCACGCGCTCGTGGTCTCGCA	0.537												
ZNF787	126208	broad.mit.edu	37	19	56600295	56600295	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56600295C>T	uc010eth.1	-	3	365	c.246G>A	c.(244-246)ACG>ACA	p.T82T		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	82	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCTGGTGCCGCGTCAGCTTGG	0.507												
ZSCAN5A	79149	broad.mit.edu	37	19	56733195	56733195	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:56733195A>G	uc002qmq.2	-	5	1406	c.1240T>C	c.(1240-1242)TGT>CGT	p.C414R	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.C297R|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.C414R|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C413R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	414	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CAGACGTCACACGTGTAGGGC	0.507												
ZNF71	58491	broad.mit.edu	37	19	57133549	57133549	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57133549C>T	uc002qnm.3	+	3	1132	c.894C>T	c.(892-894)TAC>TAT	p.Y298Y		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	298	C2H2-type 7.					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)		AGAAGCCGTACGCCTGCAAGG	0.667												
ZNF71	58491	broad.mit.edu	37	19	57133703	57133703	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57133703G>A	uc002qnm.3	+	3	1286	c.1048G>A	c.(1048-1050)GGC>AGC	p.G350S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	350						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)		CTTCCACATCGGCGTGAAGCC	0.642												
DUXA	503835	broad.mit.edu	37	19	57669726	57669726	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:57669726T>G	uc002qoa.1	-	4	453	c.408A>C	c.(406-408)AAA>AAC	p.K136N		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	136	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CACCGATTTCTTTAGCAAGTT	0.433												
ZNF606	80095	broad.mit.edu	37	19	58500078	58500078	+	Silent	SNP	G	G	T	rs139860010	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:58500078G>T	uc002qqw.2	-	5	807	c.189C>A	c.(187-189)ACC>ACA	p.T63T	ZNF606_uc010yhp.1_5'UTR	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	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;0.0168)		CGTCCTTGAAGGTCACTGGTT	0.557												
ZSCAN18	65982	broad.mit.edu	37	19	58600183	58600183	+	Missense_Mutation	SNP	G	G	A	rs73058515	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:58600183G>A	uc002qri.2	-	3	734	c.425C>T	c.(424-426)GCG>GTG	p.A142V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A142V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A7V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A142V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A198V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.A142V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.A142V	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	142					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGATGAGCCCGCAGGGGAGCC	0.597												
TPO	7173	broad.mit.edu	37	2	1491722	1491722	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1491722C>T	uc002qww.2	+	10	1818	c.1727C>T	c.(1726-1728)GCG>GTG	p.A576V	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.A576V|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.A403V|TPO_uc010yip.1_Missense_Mutation_p.A576V|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	576	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(1)		ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592												
TPO	7173	broad.mit.edu	37	2	1544475	1544475	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1544475G>A	uc002qww.2	+	16	2819	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A853T|TPO_uc002qwr.2_Missense_Mutation_p.A910T|TPO_uc002qwx.2_Missense_Mutation_p.A853T|TPO_uc010yio.1_Missense_Mutation_p.A737T|TPO_uc010yip.1_Missense_Mutation_p.A866T|TPO_uc002qwy.1_Missense_Mutation_p.A206T|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	910	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAGCGGGCCGCAGCTCAGGA	0.642												
PXDN	7837	broad.mit.edu	37	2	1670060	1670060	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:1670060T>C	uc002qxa.2	-	10	1281	c.1217A>G	c.(1216-1218)GAC>GGC	p.D406G	PXDN_uc002qxb.1_Missense_Mutation_p.D406G|PXDN_uc002qxc.1_Missense_Mutation_p.D223G	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	406	Ig-like C2-type 2.				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)		CTCTCCGCTGTCCCCCTGTAC	0.582												
MBOAT2	129642	broad.mit.edu	37	2	9017244	9017244	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:9017244A>G	uc002qzg.1	-	7	739	c.606T>C	c.(604-606)ATT>ATC	p.I202I	MBOAT2_uc010yix.1_Silent_p.I202I	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	202	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGCCTTCAATGAAAGTAA	0.418												
ASAP2	8853	broad.mit.edu	37	2	9541417	9541417	+	Silent	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:9541417T>A	uc002qzh.2	+	27	3178	c.2838T>A	c.(2836-2838)CCT>CCA	p.P946P	ASAP2_uc002qzi.2_Silent_p.P901P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	946	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AGTTGAAGCCTAAGCGGGTGA	0.597												
GRHL1	29841	broad.mit.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	G	A	rs140278187		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:10101557G>A	uc002raa.2	+	4	832	c.661G>A	c.(661-663)GTT>ATT	p.V221I	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.A57A|GRHL1_uc010yjb.1_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	221					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)		CAAGGAAGGCGTTCAGGAGGT	0.463												
ODC1	4953	broad.mit.edu	37	2	10581771	10581771	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:10581771G>A	uc010exg.1	-	11	1539	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	ODC1_uc002ran.1_Missense_Mutation_p.R55C|ODC1_uc002rao.1_Missense_Mutation_p.R369C|ODC1_uc010yjd.1_Missense_Mutation_p.R239C	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	369					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AGGTCACAGCGCTCAACAATC	0.478												
C2orf50	130813	broad.mit.edu	37	2	11284096	11284096	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:11284096G>A	uc010yji.1	+	3	630	c.348G>A	c.(346-348)TCG>TCA	p.S116S	C2orf50_uc010yjj.1_Silent_p.S116S	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	hypothetical protein LOC130813	116											0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CTCTCTTTTCGGACACAGTTC	0.572												
OSR1	130497	broad.mit.edu	37	2	19553341	19553341	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:19553341C>T	uc002rdc.2	-	2	529	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	76					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGCTGGACACCGTGCCCGGC	0.627												
OSR1	130497	broad.mit.edu	37	2	19553481	19553481	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:19553481C>T	uc002rdc.2	-	2	389	c.86G>A	c.(85-87)GGC>GAC	p.G29D		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	29					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGGCAGGCCGTTCACTGC	0.607												
PUM2	23369	broad.mit.edu	37	2	20511272	20511272	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:20511272G>A	uc002rds.1	-	4	524	c.501C>T	c.(499-501)GCC>GCT	p.A167A	PUM2_uc002rdt.1_Silent_p.A167A|PUM2_uc002rdr.2_Silent_p.A106A|PUM2_uc010yjy.1_Silent_p.A167A|PUM2_uc002rdu.1_Silent_p.A167A|PUM2_uc010yjz.1_Silent_p.A106A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	167	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGCAATCGGCATCCATTC	0.338												
PUM2	23369	broad.mit.edu	37	2	20511425	20511425	+	Splice_Site	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:20511425C>A	uc002rds.1	-	4	372	c.349_splice	c.e4-1	p.G117_splice	PUM2_uc002rdt.1_Splice_Site_p.G117_splice|PUM2_uc002rdr.2_Splice_Site_p.G56_splice|PUM2_uc010yjy.1_Splice_Site_p.G117_splice|PUM2_uc002rdu.1_Splice_Site_p.G117_splice|PUM2_uc010yjz.1_Splice_Site_p.G56_splice	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTAGTGCCCTGAGGAAAAA	0.388												
APOB	338	broad.mit.edu	37	2	21234948	21234948	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:21234948G>A	uc002red.2	-	26	4920	c.4792C>T	c.(4792-4794)CTG>TTG	p.L1598L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1598					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)	TCAGAACGCAGCAGTGCATTT	0.408												
OTOF	9381	broad.mit.edu	37	2	26683875	26683875	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:26683875G>A	uc002rhk.2	-	44	5684	c.5557C>T	c.(5557-5559)CGG>TGG	p.R1853W	OTOF_uc010yla.1_Missense_Mutation_p.R583W|OTOF_uc002rhh.2_Missense_Mutation_p.R1086W|OTOF_uc002rhi.2_Missense_Mutation_p.R1163W|OTOF_uc002rhj.2_Missense_Mutation_p.R1086W	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1853	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCGGGAACCGGTTCAGGTCC	0.662												
CAD	790	broad.mit.edu	37	2	27461031	27461031	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:27461031A>G	uc002rji.2	+	30	4998	c.4836A>G	c.(4834-4836)ATA>ATG	p.I1612M	CAD_uc010eyw.2_Missense_Mutation_p.I1549M	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1612	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)	CAGTGCACATATGTCACGTGG	0.577												
SLC8A1	6546	broad.mit.edu	37	2	40656250	40656250	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:40656250C>T	uc002rrx.2	-	1	1195	c.1171G>A	c.(1171-1173)GTC>ATC	p.V391I	SLC8A1_uc002rry.2_Missense_Mutation_p.V391I|SLC8A1_uc002rrz.2_Missense_Mutation_p.V391I|SLC8A1_uc002rsa.2_Missense_Mutation_p.V391I|SLC8A1_uc002rsd.3_Missense_Mutation_p.V391I|SLC8A1_uc002rsb.1_Missense_Mutation_p.V391I|SLC8A1_uc010fan.1_Missense_Mutation_p.V391I|SLC8A1_uc002rsc.1_Missense_Mutation_p.V391I	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	391	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCATGCTGACAGCCTTCCTT	0.453												
EML4	27436	broad.mit.edu	37	2	42508059	42508059	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:42508059A>G	uc002rsi.2	+	7	999	c.737A>G	c.(736-738)AAC>AGC	p.N246S	EML4_uc010fap.2_Missense_Mutation_p.N188S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	246					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						GATGTTGACAACTATGATGAC	0.413			T	ALK	NSCLC							
PLEKHH2	130271	broad.mit.edu	37	2	43958648	43958648	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:43958648C>T	uc010yny.1	+	19	2933	c.2850C>T	c.(2848-2850)CAC>CAT	p.H950H	PLEKHH2_uc002rtf.3_Silent_p.H949H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	950						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TATGGAGACACCCCACTTTGT	0.358												
PRKCE	5581	broad.mit.edu	37	2	46378253	46378253	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:46378253C>T	uc002rut.2	+	13	2002	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	602	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGATGATGGCTGGACAGCCT	0.582												
LHCGR	3973	broad.mit.edu	37	2	48925908	48925908	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:48925908G>A	uc002rwu.3	-	9	782	c.712C>T	c.(712-714)CCG>TCG	p.P238S	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	238	Extracellular (Potential).|LRR 6.				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)	CCATAGCTCGGCAGGGCCTGC	0.353									Familial_Male-Limited_Precocious_Puberty			
SPTBN1	6711	broad.mit.edu	37	2	54856269	54856269	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:54856269C>T	uc002rxu.2	+	14	2247	c.1998C>T	c.(1996-1998)TAC>TAT	p.Y666Y	SPTBN1_uc002rxv.1_Silent_p.Y666Y|SPTBN1_uc002rxx.2_Silent_p.Y653Y	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	666	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CGGACGATTACGGGAAAGACC	0.602												
EFEMP1	2202	broad.mit.edu	37	2	56145129	56145129	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:56145129T>C	uc002rzh.2	-	4	518	c.188A>G	c.(187-189)AAC>AGC	p.N63S	EFEMP1_uc002rzi.2_Missense_Mutation_p.N63S|EFEMP1_uc002rzj.2_Missense_Mutation_p.N63S|EFEMP1_uc010ypc.1_Missense_Mutation_p.N5S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	63	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCATAGTGGTTGACACACTT	0.438												
EFEMP1	2202	broad.mit.edu	37	2	56149565	56149565	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:56149565G>A	uc002rzh.2	-	2	341	c.11C>T	c.(10-12)GCC>GTC	p.A4V	EFEMP1_uc002rzi.2_Missense_Mutation_p.A4V|EFEMP1_uc002rzj.2_Missense_Mutation_p.A4V|EFEMP1_uc010ypc.1_5'UTR	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	4					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGGAAAAGGGCTTTCAACAT	0.433												
VRK2	7444	broad.mit.edu	37	2	58386659	58386659	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:58386659A>G	uc002rzo.2	+	16	2103	c.1358A>G	c.(1357-1359)TAC>TGC	p.Y453C	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Missense_Mutation_p.Y335C|VRK2_uc002rzv.2_Missense_Mutation_p.Y453C|VRK2_uc010fcd.2_Missense_Mutation_p.Y430C|VRK2_uc002rzp.2_Missense_Mutation_p.Y453C|VRK2_uc010ypg.1_Missense_Mutation_p.Y453C|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Missense_Mutation_p.Y335C|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	453						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TGGTATAAATACACTTCCACA	0.393												
BCL11A	53335	broad.mit.edu	37	2	60687881	60687881	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:60687881C>T	uc002sae.1	-	4	2394	c.2166G>A	c.(2164-2166)ACG>ACA	p.T722T	BCL11A_uc002sab.2_Silent_p.T722T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.T391T|BCL11A_uc010ypj.1_Silent_p.T688T|BCL11A_uc002sad.1_Silent_p.T570T|BCL11A_uc002saf.1_Silent_p.T688T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	722					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAATATGGGGCGTGCTCCCTC	0.632			T	IGH@	B-CLL							
REL	5966	broad.mit.edu	37	2	61144153	61144153	+	Splice_Site	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61144153G>A	uc002sam.1	+	5	759	c.535_splice	c.e5+1	p.R179_splice	REL_uc002san.1_Splice_Site_p.R179_splice	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TATGACAACCGTAAGTACTTC	0.274			A		Hodgkin Lymphoma							
USP34	9736	broad.mit.edu	37	2	61607348	61607348	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61607348A>G	uc002sbe.2	-	7	992	c.970T>C	c.(970-972)TCA>CCA	p.S324P		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	324					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)			AAAGTAGGTGACATAAAGTAC	0.348												
MCEE	84693	broad.mit.edu	37	2	71337204	71337204	+	Missense_Mutation	SNP	G	G	A	rs138436961	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71337204G>A	uc002shs.2	-	3	472	c.427C>T	c.(427-429)CGC>TGC	p.R143C		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	143					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						CTTAGACTGCGGATCTTCTTT	0.378												
DYSF	8291	broad.mit.edu	37	2	71883367	71883367	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71883367C>T	uc002sie.2	+	42	4961	c.4585C>T	c.(4585-4587)CGG>TGG	p.R1529W	DYSF_uc010feg.2_Missense_Mutation_p.R1560W|DYSF_uc010feh.2_Missense_Mutation_p.R1536W|DYSF_uc002sig.3_Missense_Mutation_p.R1515W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1550W|DYSF_uc010fef.2_Missense_Mutation_p.R1567W|DYSF_uc010fei.2_Missense_Mutation_p.R1546W|DYSF_uc010fek.2_Missense_Mutation_p.R1547W|DYSF_uc010fej.2_Missense_Mutation_p.R1537W|DYSF_uc010fel.2_Missense_Mutation_p.R1516W|DYSF_uc010feo.2_Missense_Mutation_p.R1561W|DYSF_uc010fem.2_Missense_Mutation_p.R1551W|DYSF_uc010fen.2_Missense_Mutation_p.R1568W|DYSF_uc002sif.2_Missense_Mutation_p.R1530W|DYSF_uc010yqy.1_Missense_Mutation_p.R410W|DYSF_uc010yqz.1_Missense_Mutation_p.R290W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1529	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAAGCTGTACCGGGGCAAGAC	0.498												
CCT7	10574	broad.mit.edu	37	2	73477494	73477494	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73477494C>T	uc002siz.2	+	10	1233	c.1131C>T	c.(1129-1131)GGC>GGT	p.G377G	CCT7_uc002sja.2_Silent_p.G173G|CCT7_uc010yrf.1_Silent_p.G333G|CCT7_uc010feu.2_Silent_p.G335G|CCT7_uc010yrg.1_Silent_p.G277G|CCT7_uc010yrh.1_Silent_p.G249G|CCT7_uc010yri.1_Silent_p.G290G	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	377					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						TCCGTGGCGGCGCCGAGCAGT	0.522												
FBXO41	150726	broad.mit.edu	37	2	73493774	73493774	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73493774C>T	uc002sjb.1	-	3	1125	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	314	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCGCGCCGCCGTCTCCTTCA	0.667												
ALMS1	7840	broad.mit.edu	37	2	73680416	73680416	+	Silent	SNP	T	T	C	rs45483291		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73680416T>C	uc002sje.1	+	10	6876	c.6765T>C	c.(6763-6765)AAT>AAC	p.N2255N	ALMS1_uc002sjf.1_Silent_p.N2211N|ALMS1_uc002sjg.2_Silent_p.N1641N|ALMS1_uc002sjh.1_Silent_p.N1641N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2253					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						ATGCAGAAAATAGTGCTAAAA	0.403												
ST3GAL5	8869	broad.mit.edu	37	2	86067345	86067345	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86067345C>T	uc002sqq.1	-	7	1308	c.1179G>A	c.(1177-1179)ACG>ACA	p.T393T	ST3GAL5_uc010fgq.1_Silent_p.T212T|ST3GAL5_uc002sqp.1_Silent_p.T370T	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	393	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						ACTTGGTTTCCGTTGTCACAT	0.428												
POLR1A	25885	broad.mit.edu	37	2	86279961	86279961	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86279961G>T	uc002sqs.2	-	16	2750	c.2371C>A	c.(2371-2373)CTC>ATC	p.L791I	POLR1A_uc010ytb.1_Missense_Mutation_p.L157I	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	791					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCTCTGTAGAGCTGCAGGTAG	0.652												
VPS24	51652	broad.mit.edu	37	2	86733008	86733008	+	Silent	SNP	C	C	T	rs140879959	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:86733008C>T	uc002srj.2	-	6	717	c.588G>A	c.(586-588)GCG>GCA	p.A196A	VPS24_uc002srk.2_Silent_p.A130A|VPS24_uc002srl.2_Silent_p.A156A|VPS24_uc010ytl.1_Silent_p.A225A	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1	196	Potential.|Intramolecular interaction with N- terminus.|Interaction with STAMBP.|Interaction with VPS4A.			Missing: Membrane association; releases autoinhibition.	cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						AGGCAGCCATCGCTCCTGGAG	0.602												
SMYD1	150572	broad.mit.edu	37	2	88409944	88409944	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:88409944C>T	uc002ssr.2	+	10	1388	c.1386C>T	c.(1384-1386)CGC>CGT	p.R462R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R158R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACAAGATGCGCGAGGCTGCCC	0.567												
EIF2AK3	9451	broad.mit.edu	37	2	88870468	88870468	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:88870468G>A	uc002stc.3	-	14	3111	c.2909C>T	c.(2908-2910)ACG>ATG	p.T970M		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	970	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GGTCAGAACCGTCTGCTCTTC	0.468												
CNNM3	26505	broad.mit.edu	37	2	97483049	97483049	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:97483049C>A	uc002swy.2	+	1	1059	c.1035C>A	c.(1033-1035)GGC>GGA	p.G345G	CNNM3_uc002swz.2_Silent_p.G345G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	345	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						TGCAGAGCGGCCACACGCGCA	0.642												
INPP4A	3631	broad.mit.edu	37	2	99203982	99203982	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:99203982C>T	uc002syy.2	+	26	3238	c.2845C>T	c.(2845-2847)CGC>TGC	p.R949C	INPP4A_uc010yvk.1_Missense_Mutation_p.R910C|INPP4A_uc002syx.2_Missense_Mutation_p.R944C|INPP4A_uc010fik.2_Missense_Mutation_p.R278C	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	949					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TGTTGGAAGTCGCAAATATGC	0.423												
RPL31	6160	broad.mit.edu	37	2	101620636	101620636	+	Missense_Mutation	SNP	G	G	A	rs148930940		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:101620636G>A	uc002taq.3	+	3	211	c.124G>A	c.(124-126)GCA>ACA	p.A42T	RPL31_uc002tar.3_Missense_Mutation_p.A42T|RPL31_uc010yvu.1_Missense_Mutation_p.A42T|RPL31_uc010yvv.1_Missense_Mutation_p.A42T|RPL31_uc010fiu.1_Missense_Mutation_p.A42T|RPL31_uc002tas.1_Missense_Mutation_p.A42T|RPL31_uc002tat.1_Missense_Mutation_p.A42T	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						CAAGAAGCGTGCACCTCGGGC	0.408												
TMEM182	130827	broad.mit.edu	37	2	103414327	103414327	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:103414327C>T	uc010fjb.2	+	4	524	c.337C>T	c.(337-339)CGT>TGT	p.R113C	TMEM182_uc002tcc.3_Missense_Mutation_p.R70C|TMEM182_uc002tcd.3_Missense_Mutation_p.R17C|TMEM182_uc010ywe.1_RNA	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor	113	Extracellular (Potential).					integral to membrane					0						TCCAGTTTACCGTGGTTTCTG	0.458												
TGFBRAP1	9392	broad.mit.edu	37	2	105924566	105924566	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:105924566C>T	uc002tcq.2	-	2	277	c.193G>A	c.(193-195)GCC>ACC	p.A65T	TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A65T	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	65	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						TGTTTGGTGGCAGTGAACGTG	0.612												
GCC2	9648	broad.mit.edu	37	2	109086795	109086795	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:109086795T>C	uc002tec.2	+	6	1164	c.1010T>C	c.(1009-1011)TTA>TCA	p.L337S	GCC2_uc002ted.2_Missense_Mutation_p.L236S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	337	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GTCAAACACTTAGAAGATACC	0.299												
CLASP1	23332	broad.mit.edu	37	2	122217561	122217561	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:122217561C>T	uc002tnc.2	-	12	1563	c.1173G>A	c.(1171-1173)ACG>ACA	p.T391T	CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.T391T|CLASP1_uc010yza.1_Silent_p.T391T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Silent_p.T391T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	391					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTTACCCCAACGTGATACAAG	0.458												
CNTNAP5	129684	broad.mit.edu	37	2	125530475	125530475	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:125530475T>C	uc002tno.2	+	17	2994	c.2630T>C	c.(2629-2631)GTC>GCC	p.V877A	CNTNAP5_uc010flu.2_Missense_Mutation_p.V878A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	877	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCACTATGTCCGGGCTGAG	0.552												
CNTNAP5	129684	broad.mit.edu	37	2	125530547	125530547	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:125530547C>T	uc002tno.2	+	17	3066	c.2702C>T	c.(2701-2703)TCG>TTG	p.S901L	CNTNAP5_uc010flu.2_Missense_Mutation_p.S902L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	901	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGAGACGTCGGAGGAGGGC	0.532												
ZRANB3	84083	broad.mit.edu	37	2	135965210	135965210	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:135965210A>G	uc002tum.2	-	19	2920	c.2803T>C	c.(2803-2805)TTT>CTT	p.F935L	ZRANB3_uc002tuk.2_Missense_Mutation_p.F478L|ZRANB3_uc002tul.2_Missense_Mutation_p.F933L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	935						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGAGAGCAAAACCGTGAATCC	0.443												
LCT	3938	broad.mit.edu	37	2	136547160	136547160	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:136547160G>A	uc002tuu.1	-	16	5555	c.5544C>T	c.(5542-5544)CAC>CAT	p.H1848H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1848	Extracellular (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)		GGAGACAAGCGTGAGGCCCTG	0.567												
LCT	3938	broad.mit.edu	37	2	136567247	136567247	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:136567247T>C	uc002tuu.1	-	8	2681	c.2670A>G	c.(2668-2670)CAA>CAG	p.Q890Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	890	3.|Extracellular (Potential).|4 X approximate repeats.				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)		CGAACTTGGGTTGGCTGGAGA	0.507												
LRP1B	53353	broad.mit.edu	37	2	141081496	141081496	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141081496A>G	uc002tvj.1	-	81	13452	c.12480T>C	c.(12478-12480)GGT>GGC	p.G4160G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4160	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)		ATATCAAAACACCTTTTGTTT	0.269										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141081540	141081540	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141081540C>T	uc002tvj.1	-	81	13408	c.12436G>A	c.(12436-12438)GGT>AGT	p.G4146S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4146	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)		TCTACTGAACCATGGCCAAAT	0.299										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141291695	141291695	+	Nonsense_Mutation	SNP	G	G	A	rs140801406		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141291695G>A	uc002tvj.1	-	47	8629	c.7657C>T	c.(7657-7659)CGA>TGA	p.R2553*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2553	Extracellular (Potential).|LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2553*(1)		lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCTCTTCGACAGCTTCTG	0.353										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141356315	141356315	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141356315G>A	uc002tvj.1	-	43	8051	c.7079C>T	c.(7078-7080)ACA>ATA	p.T2360I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2360	Extracellular (Potential).|LDL-receptor class B 25.				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)		GAGTATGTCTGTACTGACCAC	0.388										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141526896	141526896	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:141526896T>C	uc002tvj.1	-	35	6616	c.5644A>G	c.(5644-5646)ATG>GTG	p.M1882V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1882	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)		ACAGAGTACATAAGAAATGAT	0.378										TSP Lung(27;0.18)		
GALNT5	11227	broad.mit.edu	37	2	158156134	158156134	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:158156134G>A	uc002tzg.2	+	6	2327	c.2072G>A	c.(2071-2073)GGC>GAC	p.G691D	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	691	Catalytic subdomain B.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TACGACCCTGGCCTTGATGTT	0.363												
GCG	2641	broad.mit.edu	37	2	163003887	163003887	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:163003887C>A	uc002ucc.2	-	3	329	c.230G>T	c.(229-231)TGG>TTG	p.W77L		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	77					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	ATTCATCAACCACTGCACAAA	0.423												
STK39	27347	broad.mit.edu	37	2	168997200	168997200	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:168997200C>T	uc002uea.2	-	6	857	c.697G>A	c.(697-699)GTT>ATT	p.V233I		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	233	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						GGGGTGCCAACGAATGTTTTT	0.373												
DFNB59	494513	broad.mit.edu	37	2	179320750	179320750	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179320750G>A	uc002umi.3	+	4	777	c.421G>A	c.(421-423)GAC>AAC	p.D141N	DFNB59_uc002umj.3_Missense_Mutation_p.D141N	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	141					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATTAACTTTGACCACAGCTT	0.373												
TTN	7273	broad.mit.edu	37	2	179429562	179429562	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179429562A>G	uc010zfg.1	-	275	73817	c.73593T>C	c.(73591-73593)GAT>GAC	p.D24531D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D18226D|TTN_uc010zfi.1_Silent_p.D18159D|TTN_uc010zfj.1_Silent_p.D18034D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25458							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)			TGGTGCCTCCATCATTCACTG	0.393												
TTN	7273	broad.mit.edu	37	2	179434797	179434797	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179434797G>A	uc010zfg.1	-	275	68582	c.68358C>T	c.(68356-68358)TGC>TGT	p.C22786C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.C16481C|TTN_uc010zfi.1_Silent_p.C16414C|TTN_uc010zfj.1_Silent_p.C16289C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23713							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)			GACGCTTATGGCATCTTGTCC	0.423												
TTN	7273	broad.mit.edu	37	2	179442553	179442553	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179442553T>C	uc010zfg.1	-	272	61120	c.60896A>G	c.(60895-60897)TAT>TGT	p.Y20299C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y13994C|TTN_uc010zfi.1_Missense_Mutation_p.Y13927C|TTN_uc010zfj.1_Missense_Mutation_p.Y13802C|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21226							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)			ACCACCGTCATATTTAGGTTC	0.393												
TTN	7273	broad.mit.edu	37	2	179446303	179446303	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179446303C>T	uc010zfg.1	-	265	59212	c.58988G>A	c.(58987-58989)CGT>CAT	p.R19663H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13358H|TTN_uc010zfi.1_Missense_Mutation_p.R13291H|TTN_uc010zfj.1_Missense_Mutation_p.R13166H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20590							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)			GGCATACACACGGAATTGATA	0.453												
TTN	7273	broad.mit.edu	37	2	179486698	179486698	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179486698C>T	uc010zfg.1	-	193	37471	c.37247G>A	c.(37246-37248)GGC>GAC	p.G12416D	TTN_uc010zfh.1_Missense_Mutation_p.G6111D|TTN_uc010zfi.1_Missense_Mutation_p.G6044D|TTN_uc010zfj.1_Missense_Mutation_p.G5919D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13343							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)			ATATTTTTTGCCCTTTTTAAT	0.353												
DNAJC10	54431	broad.mit.edu	37	2	183619751	183619751	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:183619751A>G	uc002uow.1	+	17	1988	c.1573A>G	c.(1573-1575)ACG>GCG	p.T525A	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.T479A|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	525	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGCTTATCCAACAACAGTGGT	0.323												
NCKAP1	10787	broad.mit.edu	37	2	183821200	183821200	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:183821200G>A	uc002upc.2	-	20	2545	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C	NCKAP1_uc002upb.2_Missense_Mutation_p.R721C	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	715					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGGTAAAGCGTATTTCCAGA	0.318												
ZNF804A	91752	broad.mit.edu	37	2	185798372	185798372	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:185798372G>C	uc002uph.2	+	3	892	c.298G>C	c.(298-300)GCA>CCA	p.A100P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	100						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TCGAAATGTAGCATCTAAATC	0.373												
ZSWIM2	151112	broad.mit.edu	37	2	187702109	187702109	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:187702109T>C	uc002upu.1	-	5	707	c.667A>G	c.(667-669)AAA>GAA	p.K223E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	223					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGTCTCTCTTTTTCTGCTGCA	0.378												
CALCRL	10203	broad.mit.edu	37	2	188245466	188245466	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:188245466A>G	uc002upv.3	-	6	781	c.233T>C	c.(232-234)GTT>GCT	p.V78A	CALCRL_uc010frt.2_Missense_Mutation_p.V78A	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	78	Extracellular (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCTGCTGCAACATCGTTCCA	0.418												
OSGEPL1	64172	broad.mit.edu	37	2	190619912	190619912	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:190619912T>C	uc002uqz.1	-	3	1130	c.596A>G	c.(595-597)GAC>GGC	p.D199G	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.D199G	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	199					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTCAAGCATGTCACCTGGTGC	0.368												
HECW2	57520	broad.mit.edu	37	2	197084840	197084840	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197084840C>A	uc002utm.1	-	26	4514	c.4331G>T	c.(4330-4332)AGA>ATA	p.R1444I	HECW2_uc002utl.1_Missense_Mutation_p.R1088I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1444	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TTCCAGTTCTCTTGCATCAAA	0.413												
SF3B1	23451	broad.mit.edu	37	2	198285757	198285757	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:198285757T>C	uc002uue.2	-	3	344	c.296A>G	c.(295-297)GAA>GGA	p.E99G	SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.E99G|SF3B1_uc002uug.2_Missense_Mutation_p.E99G	NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	99					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATCACCTGTTCTGTTGACTG	0.373												
ORC2L	4999	broad.mit.edu	37	2	201791550	201791550	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:201791550G>A	uc002uwr.2	-	12	1248	c.991C>T	c.(991-993)CTG>TTG	p.L331L	ORC2L_uc010zhj.1_Silent_p.L331L	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	331					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						GAATCTTGCAGCATAGTGGTT	0.368												
FAM117B	150864	broad.mit.edu	37	2	203560705	203560705	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:203560705C>T	uc010zhx.1	+	2	713	c.703C>T	c.(703-705)CGG>TGG	p.R235W	FAM117B_uc010zhw.1_Missense_Mutation_p.R235W	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	235										ovary(1)	1						ACACTGGCCTCGGGATAGCCA	0.488												
NRP2	8828	broad.mit.edu	37	2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:206628415C>T	uc002vaw.2	+	13	2853	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	NRP2_uc002vau.2_Missense_Mutation_p.R688W|NRP2_uc002vav.2_Missense_Mutation_p.R688W|NRP2_uc002vax.2_Missense_Mutation_p.R688W|NRP2_uc002vay.2_Missense_Mutation_p.R688W	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	688	Extracellular (Potential).|MAM.				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						GAATTTCTTGCGGCTGCAGAG	0.572											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM119A	151194	broad.mit.edu	37	2	208486553	208486553	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:208486553A>G	uc002vcf.2	-	3	396	c.236T>C	c.(235-237)GTG>GCG	p.V79A	FAM119A_uc002vce.2_Missense_Mutation_p.V79A|FAM119A_uc010fuk.1_Missense_Mutation_p.V79A|FAM119A_uc002vcg.3_Missense_Mutation_p.V79A	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	79	Helical; (Potential).					integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CACTATGCCCACCAGCCCCGT	0.562												
CRYGB	1419	broad.mit.edu	37	2	209007376	209007376	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:209007376T>C	uc002vcp.3	-	3	547	c.514A>G	c.(514-516)ATG>GTG	p.M172V		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	172	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TACAAATCCATGACTCGTCTA	0.443												
ERBB4	2066	broad.mit.edu	37	2	212289018	212289018	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:212289018T>C	uc002veg.1	-	23	2826	c.2728A>G	c.(2728-2730)ATA>GTA	p.I910V	ERBB4_uc002veh.1_Missense_Mutation_p.I910V|ERBB4_uc010zji.1_Missense_Mutation_p.I900V|ERBB4_uc010zjj.1_Missense_Mutation_p.I900V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	910	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGTTCCCATATAGTAACTCCT	0.373										TSP Lung(8;0.080)		
ERBB4	2066	broad.mit.edu	37	2	212568916	212568916	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:212568916A>G	uc002veg.1	-	11	1300	c.1202T>C	c.(1201-1203)TTC>TCC	p.F401S	ERBB4_uc002veh.1_Missense_Mutation_p.F401S|ERBB4_uc010zji.1_Missense_Mutation_p.F401S|ERBB4_uc010zjj.1_Missense_Mutation_p.F401S|ERBB4_uc010fut.1_Missense_Mutation_p.F401S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	401	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATGTTCAGGAAACCTACAAG	0.358										TSP Lung(8;0.080)		
IKZF2	22807	broad.mit.edu	37	2	213872278	213872278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:213872278C>A	uc002vem.2	-	8	1556	c.1387G>T	c.(1387-1389)GGA>TGA	p.G463*	IKZF2_uc010fuu.2_Nonsense_Mutation_p.G318*|IKZF2_uc002vej.2_Nonsense_Mutation_p.G410*|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Nonsense_Mutation_p.G389*|IKZF2_uc002vel.2_Nonsense_Mutation_p.G384*|IKZF2_uc010fuw.2_Nonsense_Mutation_p.G237*|IKZF2_uc010fux.2_Nonsense_Mutation_p.G237*|IKZF2_uc010fuy.2_Nonsense_Mutation_p.G391*|IKZF2_uc002ven.2_Nonsense_Mutation_p.G437*|IKZF2_uc002vei.2_Nonsense_Mutation_p.G241*	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCTCCTTCTCCATTGAAGACC	0.488												
IKZF2	22807	broad.mit.edu	37	2	214012446	214012446	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:214012446C>T	uc002vem.2	-	3	294	c.125G>A	c.(124-126)AGT>AAT	p.S42N	IKZF2_uc010fuu.2_Missense_Mutation_p.S42N|IKZF2_uc002vej.2_5'UTR|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.S42N|IKZF2_uc002vel.2_5'UTR|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.S42N|IKZF2_uc002ven.2_Missense_Mutation_p.S42N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTCATGTGACTTGGTGAGGC	0.453												
ATIC	471	broad.mit.edu	37	2	216182940	216182940	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:216182940T>C	uc002vex.3	+	3	381	c.207T>C	c.(205-207)CAT>CAC	p.H69H	ATIC_uc010zjo.1_Silent_p.H10H|ATIC_uc002vey.3_Silent_p.H68H	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	69					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)	AAACTTTGCATCCTGCAGTCC	0.408			T	ALK	ALCL							
TNS1	7145	broad.mit.edu	37	2	218712809	218712809	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:218712809C>T	uc002vgt.2	-	17	2454	c.2056G>A	c.(2056-2058)GCA>ACA	p.A686T	TNS1_uc002vgr.2_Missense_Mutation_p.A686T|TNS1_uc002vgs.2_Missense_Mutation_p.A686T|TNS1_uc010zjv.1_Missense_Mutation_p.A686T|TNS1_uc010fvj.1_Missense_Mutation_p.A754T|TNS1_uc010fvk.1_Missense_Mutation_p.A811T|TNS1_uc010fvi.1_Missense_Mutation_p.A373T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	686						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)		GGGGTCTCTGCCAATGGCTGA	0.532												
GPBAR1	151306	broad.mit.edu	37	2	219127900	219127900	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:219127900T>C	uc010zjw.1	+	2	700	c.453T>C	c.(451-453)CCT>CCC	p.P151P	GPBAR1_uc010zjx.1_Silent_p.P151P|GPBAR1_uc010zjy.1_Silent_p.P151P	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	151	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGGACCCCTGGTGCCAACT	0.662												
ZNF142	7701	broad.mit.edu	37	2	219508771	219508771	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:219508771C>T	uc002vin.2	-	8	2904	c.2468G>A	c.(2467-2469)CGG>CAG	p.R823Q	ZNF142_uc002vil.2_Missense_Mutation_p.R784Q|ZNF142_uc010fvt.2_Missense_Mutation_p.R660Q|ZNF142_uc002vim.2_Missense_Mutation_p.R660Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTGCACCCGCCCCTCTAG	0.582												
CRYBA2	1412	broad.mit.edu	37	2	219855055	219855055	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:219855055G>A	uc002vjj.1	-	5	548	c.513C>T	c.(511-513)AGC>AGT	p.S171S	CRYBA2_uc002vjk.1_Silent_p.S171S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	171	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACTCTCCGCTGTGCCGGT	0.627												
KCNE4	23704	broad.mit.edu	37	2	223917619	223917619	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:223917619G>A	uc002vnl.3	+	2	225	c.71G>A	c.(70-72)CGT>CAT	p.R24H		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	24						integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGGAGTCCCGTGCGGCCGGC	0.617												
SPHKAP	80309	broad.mit.edu	37	2	228882136	228882136	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:228882136T>C	uc002vpq.2	-	7	3481	c.3434A>G	c.(3433-3435)GAG>GGG	p.E1145G	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1145G|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1145G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1145						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)		CAGCAGTAACTCAAATCCTCT	0.522												
SP100	6672	broad.mit.edu	37	2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:231314895G>A	uc002vqt.2	+	8	886	c.745G>A	c.(745-747)GAA>AAA	p.E249K	SP100_uc002vqs.2_Missense_Mutation_p.E249K|SP100_uc002vqu.1_Missense_Mutation_p.E249K|SP100_uc010zmb.1_Missense_Mutation_p.E249K|SP100_uc002vqq.1_Missense_Mutation_p.E249K|SP100_uc002vqr.1_Missense_Mutation_p.E224K|SP100_uc010zmc.1_Missense_Mutation_p.E224K|SP100_uc002vqv.1_Missense_Mutation_p.E213K	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473												
ITM2C	81618	broad.mit.edu	37	2	231742762	231742762	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:231742762G>A	uc002vqz.2	+	6	872	c.752G>A	c.(751-753)CGC>CAC	p.R251H	ITM2C_uc002vra.2_Missense_Mutation_p.R204H|ITM2C_uc002vrb.2_Missense_Mutation_p.R214H|ITM2C_uc002vrc.2_Missense_Mutation_p.R140H|ITM2C_uc002vrd.2_Missense_Mutation_p.R103H	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	251					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AATGCCATCCGCCACTTCGAG	0.577												
HJURP	55355	broad.mit.edu	37	2	234752914	234752914	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:234752914C>T	uc002vvg.2	-	7	577	c.511G>A	c.(511-513)GCT>ACT	p.A171T	HJURP_uc010znd.1_Missense_Mutation_p.A110T|HJURP_uc010zne.1_Missense_Mutation_p.A79T	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	171					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCCTTCCAGCTCTGTTACCT	0.552												
CXCR7	57007	broad.mit.edu	37	2	237489793	237489793	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:237489793G>A	uc010fyq.2	+	3	915	c.685G>A	c.(685-687)GCT>ACT	p.A229T	CXCR7_uc002vwd.2_Missense_Mutation_p.A229T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	229	Helical; Name=5; (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)		CTCCATTATCGCTGTCTTCTA	0.577												
COL6A3	1293	broad.mit.edu	37	2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238253001C>T	uc002vwl.2	-	36	7945	c.7660G>A	c.(7660-7662)GCT>ACT	p.A2554T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2348T|COL6A3_uc010znj.1_Missense_Mutation_p.A1947T|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.A375T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2554	VWFA 11.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557												
COL6A3	1293	broad.mit.edu	37	2	238285492	238285492	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238285492G>A	uc002vwl.2	-	7	3278	c.2993C>T	c.(2992-2994)TCG>TTG	p.S998L	COL6A3_uc002vwo.2_Missense_Mutation_p.S792L|COL6A3_uc010znj.1_Missense_Mutation_p.S391L|COL6A3_uc002vwq.2_Missense_Mutation_p.S792L|COL6A3_uc002vwr.2_Missense_Mutation_p.S591L|COL6A3_uc010znk.1_Missense_Mutation_p.S798L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	998	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGGGAAGCGACTCTGCAGC	0.498												
UBE2F	140739	broad.mit.edu	37	2	238881799	238881799	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:238881799C>T	uc002vxk.2	+	2	141	c.50C>T	c.(49-51)TCC>TTC	p.S17F	UBE2F_uc010znn.1_Missense_Mutation_p.S17F|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Missense_Mutation_p.S17F|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	17	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTCAAAGGGTCCCGGACGGCA	0.473												
HDAC4	9759	broad.mit.edu	37	2	239988477	239988477	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:239988477C>T	uc002vyk.3	-	24	3721	c.2929G>A	c.(2929-2931)GAC>AAC	p.D977N	HDAC4_uc010fyy.2_Missense_Mutation_p.D934N	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	977	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGGTCAGGTCGTGGCCTCCC	0.627												
HDLBP	3069	broad.mit.edu	37	2	242174570	242174570	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:242174570C>T	uc002waz.2	-	23	3338	c.3110G>A	c.(3109-3111)CGT>CAT	p.R1037H	HDLBP_uc002wba.2_Missense_Mutation_p.R1037H|HDLBP_uc002wbb.2_Missense_Mutation_p.R989H	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1037	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCTTCACACGCTCCAGCAG	0.542												
FARP2	9855	broad.mit.edu	37	2	242429430	242429430	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:242429430G>A	uc002wbi.1	+	22	2592	c.2475G>A	c.(2473-2475)GCG>GCA	p.A825A		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	825	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCATCTACGCGGCTCAGAAAA	0.552												
TBC1D20	128637	broad.mit.edu	37	20	419477	419477	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:419477G>A	uc002wds.2	-	8	1103	c.965C>T	c.(964-966)GCC>GTC	p.A322V	TBC1D20_uc002wdv.2_Missense_Mutation_p.A145V|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	322					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GAAAGTAGAGGCTGCCGTCCT	0.552												
SLC4A11	83959	broad.mit.edu	37	20	3210170	3210170	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:3210170C>A	uc002wig.2	-	13	1838	c.1790G>T	c.(1789-1791)AGC>ATC	p.S597I	SLC4A11_uc010zqe.1_Missense_Mutation_p.S624I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.S581I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	597	Membrane (bicarbonate transporter).|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						AGCCCCTCACCTCTTCTTGAA	0.657												
CHGB	1114	broad.mit.edu	37	20	5904061	5904061	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:5904061G>T	uc002wmg.2	+	4	1577	c.1271G>T	c.(1270-1272)GGG>GTG	p.G424V	CHGB_uc010zqz.1_Missense_Mutation_p.G107V	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	424						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						GGCAGGGGAGGGGAGCCACGT	0.527												
TRMT6	51605	broad.mit.edu	37	20	5922653	5922653	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:5922653C>T	uc002wmh.1	-	8	1178	c.1056G>A	c.(1054-1056)GAG>GAA	p.E352E	TRMT6_uc010zra.1_Silent_p.E182E|TRMT6_uc010gbn.1_3'UTR	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	352					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TTTTCCTCTGCTCTTCTTGTC	0.448												
PLCB4	5332	broad.mit.edu	37	20	9368181	9368181	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:9368181T>C	uc002wnf.2	+	14	1272	c.1136T>C	c.(1135-1137)ATG>ACG	p.M379T	PLCB4_uc010gbw.1_Missense_Mutation_p.M379T|PLCB4_uc010gbx.2_Missense_Mutation_p.M379T|PLCB4_uc002wne.2_Missense_Mutation_p.M379T|PLCB4_uc002wnh.2_Missense_Mutation_p.M226T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	379	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						GGAAAAGCAATGTGTACAGAT	0.348												
ANKRD5	63926	broad.mit.edu	37	20	10019036	10019036	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:10019036G>T	uc002wno.2	+	3	480	c.87G>T	c.(85-87)GAG>GAT	p.E29D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.E29D|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	29							calcium ion binding			ovary(1)|breast(1)	2						AGCAGATAGAGAAGCTGACCA	0.403												
SEL1L2	80343	broad.mit.edu	37	20	13846098	13846098	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:13846098G>T	uc010gcf.2	-	16	1549	c.1467C>A	c.(1465-1467)GCC>GCA	p.A489A	SEL1L2_uc002woq.3_Silent_p.A350A|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	489	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						CATCCTTATAGGCAAAGTAAG	0.413												
MACROD2	140733	broad.mit.edu	37	20	15210620	15210620	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:15210620C>T	uc002wou.2	+	6	717	c.453C>T	c.(451-453)GGC>GGT	p.G151G	MACROD2_uc002wot.2_Silent_p.G151G|MACROD2_uc002woz.2_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	151	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TAGCCAGGGGCCATATTAATG	0.353												
CRNKL1	51340	broad.mit.edu	37	20	20017972	20017972	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:20017972C>T	uc002wrs.2	-	14	2406	c.2374G>A	c.(2374-2376)GAT>AAT	p.D792N		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	792	HAT 16.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						CTTACCCCATCATCAGTCTGG	0.428												
CST8	10047	broad.mit.edu	37	20	23473695	23473695	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:23473695C>A	uc002wth.1	+	3	689	c.332C>A	c.(331-333)TCC>TAC	p.S111Y		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	111						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAAGAAAACTCCAAGCTGAAA	0.468												
CST9L	128821	broad.mit.edu	37	20	23548877	23548877	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:23548877C>A	uc002wtk.3	-	1	510	c.211G>T	c.(211-213)GGG>TGG	p.G71W		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	71						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGATGTGCCCCAGTCTGTAG	0.532												
PYGB	5834	broad.mit.edu	37	20	25261593	25261593	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:25261593C>T	uc002wup.2	+	11	1357	c.1248C>T	c.(1246-1248)GCC>GCT	p.A416A		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	AGCACGTGGCCGCGCTGTTTC	0.642												
PYGB	5834	broad.mit.edu	37	20	25274898	25274898	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:25274898A>G	uc002wup.2	+	18	2391	c.2282A>G	c.(2281-2283)GAC>GGC	p.D761G		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	761					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGCTTCAAGGACATCGTGAAC	0.507											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF341	84905	broad.mit.edu	37	20	32354675	32354675	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:32354675C>T	uc002wzy.2	+	9	1261	c.1241C>T	c.(1240-1242)CCG>CTG	p.P414L	ZNF341_uc002wzx.2_Missense_Mutation_p.P407L|ZNF341_uc010geq.2_Missense_Mutation_p.P324L|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGCCCCTGCCGGGTGCGCCA	0.637												
GDF5	8200	broad.mit.edu	37	20	34022311	34022311	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:34022311C>T	uc002xck.1	-	2	1221	c.902G>A	c.(901-903)CGA>CAA	p.R301Q	GDF5_uc010gfc.1_Missense_Mutation_p.R301Q|uc002xcj.2_Missense_Mutation_p.S241L|GDF5_uc010zvc.1_Missense_Mutation_p.R301Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	301					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTTAAAGTTTCGGAAGAGCTT	0.692												
SLA2	84174	broad.mit.edu	37	20	35269703	35269703	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:35269703T>C	uc002xfv.2	-	2	398	c.36A>G	c.(34-36)CCA>CCG	p.P12P	SLA2_uc002xfu.2_Silent_p.P12P	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	12					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGCTTGGGCTTGGCAGAGATT	0.547												
TGM2	7052	broad.mit.edu	37	20	36789944	36789944	+	Missense_Mutation	SNP	G	G	A	rs147890243		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:36789944G>A	uc002xhr.2	-	2	168	c.68C>T	c.(67-69)ACG>ATG	p.T23M	TGM2_uc010zvx.1_Missense_Mutation_p.T23M|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.T23M|TGM2_uc002xht.2_Missense_Mutation_p.T23M|TGM2_uc002xhu.3_Missense_Mutation_p.T23M	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	23					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGGTCGGCCGTGTGGTGGTC	0.612												
PLCG1	5335	broad.mit.edu	37	20	39794919	39794919	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:39794919T>G	uc002xjp.1	+	17	2006	c.1885T>G	c.(1885-1887)TTT>GTT	p.F629V	PLCG1_uc002xjo.1_Missense_Mutation_p.F629V|PLCG1_uc010zwe.1_Missense_Mutation_p.F255V|PLCG1_uc010ggf.2_5'UTR	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	629	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CAACCTCGTCTTTGACTCCCT	0.562												
SFRS6	6431	broad.mit.edu	37	20	42089677	42089677	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:42089677A>G	uc010zwg.1	+	6	1179	c.1009A>G	c.(1009-1011)AGG>GGG	p.R337G	SFRS6_uc002xki.2_Missense_Mutation_p.R208G|SFRS6_uc002xkk.2_Intron	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	337	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCAAGATCAAGGTCCAGGTC	0.458												
UBE2C	11065	broad.mit.edu	37	20	44444242	44444242	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44444242G>A	uc002xpm.2	+	4	359	c.279G>A	c.(277-279)GCG>GCA	p.A93A	UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.A54A|UBE2C_uc002xpo.2_Silent_p.A64A|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.A54A	NM_007019	NP_008950	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C isoform 1	93					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Myeloproliferative disorder(115;0.0122)				CTTACAATGCGCCCACAGTGA	0.522												
ZSWIM3	140831	broad.mit.edu	37	20	44505382	44505382	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44505382G>A	uc002xqd.2	+	2	388	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	ZSWIM3_uc010zxg.1_Missense_Mutation_p.R56Q	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	62							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GTCTGCATTCGGACCCAATCA	0.478												
MMP9	4318	broad.mit.edu	37	20	44639177	44639177	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:44639177C>T	uc002xqz.2	+	3	446	c.427C>T	c.(427-429)CGC>TGC	p.R143C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	143					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCCTTTGCCCGCGCCTTCGC	0.602												
ZNFX1	57169	broad.mit.edu	37	20	47872372	47872372	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:47872372T>C	uc002xui.2	-	9	3024	c.2777A>G	c.(2776-2778)GAC>GGC	p.D926G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	926	Potential.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAACTGAGGTCCAGCTGCCA	0.478												
KCNB1	3745	broad.mit.edu	37	20	48098562	48098562	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:48098562G>A	uc002xur.1	-	1	620	c.456C>T	c.(454-456)GCC>GCT	p.A152A	KCNB1_uc002xus.1_Silent_p.A152A	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	152	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAGGGTCTCGGCCTCACGCT	0.577												
FAM65C	140876	broad.mit.edu	37	20	49225219	49225219	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:49225219A>G	uc002xvm.2	-	10	1047	c.729T>C	c.(727-729)GAT>GAC	p.D243D	FAM65C_uc010zyt.1_Silent_p.D247D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.D243D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	243										ovary(2)	2						TCTGGCTGTCATCTGACTCGA	0.657												
AURKA	6790	broad.mit.edu	37	20	54961381	54961381	+	Missense_Mutation	SNP	A	A	T	rs45533839		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:54961381A>T	uc002xxd.1	-	5	817	c.251T>A	c.(250-252)GTA>GAA	p.V84E	AURKA_uc002xxe.1_Missense_Mutation_p.V84E|AURKA_uc002xxf.1_Missense_Mutation_p.V84E|AURKA_uc002xxg.1_Missense_Mutation_p.V84E|AURKA_uc002xxh.1_Missense_Mutation_p.V84E|AURKA_uc002xxi.1_Missense_Mutation_p.V84E|AURKA_uc002xxj.1_Missense_Mutation_p.V84E|AURKA_uc002xxk.1_Missense_Mutation_p.V84E|AURKA_uc010zzd.1_Intron	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			AGGATGAGGTACACTGGTTGC	0.493												
CSTF1	1477	broad.mit.edu	37	20	54978709	54978709	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:54978709A>G	uc002xxl.1	+	6	1422	c.1222A>G	c.(1222-1224)ACC>GCC	p.T408A	CSTF1_uc002xxm.1_Missense_Mutation_p.T408A|CSTF1_uc002xxn.1_Missense_Mutation_p.T408A|CSTF1_uc002xxo.1_Missense_Mutation_p.T351A	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	408	WD 6.				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)			GCACTCCCCCACCAACCCCGG	0.572												
CTCFL	140690	broad.mit.edu	37	20	56089762	56089762	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:56089762G>A	uc010gix.1	-	6	1878	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	CTCFL_uc010giw.1_Missense_Mutation_p.R406C|CTCFL_uc002xym.2_Missense_Mutation_p.R406C|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_Missense_Mutation_p.R76C|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjb.1_Missense_Mutation_p.R406C|CTCFL_uc010gjc.1_Missense_Mutation_p.R406C|CTCFL_uc010gjd.1_Missense_Mutation_p.R406C|CTCFL_uc010gje.2_Missense_Mutation_p.R406C|CTCFL_uc010gjf.2_Missense_Mutation_p.R201C|CTCFL_uc010gjg.2_Missense_Mutation_p.R138C|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.R201C|CTCFL_uc010gjj.1_Missense_Mutation_p.R406C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	406	C2H2-type 6.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGGGTGAAGCGGGTGTGGCAG	0.527											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPEPL1	79716	broad.mit.edu	37	20	57290352	57290352	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:57290352G>A	uc010zzs.1	+	12	1637	c.1542G>A	c.(1540-1542)GGG>GGA	p.G514G	NPEPL1_uc010zzr.1_Silent_p.G466G|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.G486G|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	514					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGGACCTGGGGAGGGACTCCA	0.592												
TUBB1	81027	broad.mit.edu	37	20	57599037	57599037	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:57599037G>A	uc002yak.2	+	4	824	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	185					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTACAACGCGGTTCTGTCTA	0.517												
OSBPL2	9885	broad.mit.edu	37	20	60861750	60861750	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:60861750C>T	uc002yck.1	+	11	1310	c.1108C>T	c.(1108-1110)CCC>TCC	p.P370S	OSBPL2_uc002ycl.1_Missense_Mutation_p.P358S|OSBPL2_uc011aah.1_Missense_Mutation_p.P278S	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	370					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAACACCCGGCCCCCCAACTC	0.657												
LAMA5	3911	broad.mit.edu	37	20	60887002	60887002	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:60887002G>A	uc002ycq.2	-	70	9676	c.9609C>T	c.(9607-9609)TAC>TAT	p.Y3203Y		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3203	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGGCGACGTAATGGGGGG	0.637												
SLCO4A1	28231	broad.mit.edu	37	20	61297923	61297923	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:61297923G>A	uc002ydb.1	+	7	1673	c.1468G>A	c.(1468-1470)GGG>AGG	p.G490R	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	490	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCTACGGCGGGAGGTGAGG	0.672												
DIDO1	11083	broad.mit.edu	37	20	61513523	61513523	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:61513523G>A	uc002ydr.1	-	16	4049	c.3785C>T	c.(3784-3786)CCG>CTG	p.P1262L	DIDO1_uc002yds.1_Missense_Mutation_p.P1262L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1262	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGCGGAGGCGGCGGCGACCC	0.627												
ZBTB46	140685	broad.mit.edu	37	20	62421220	62421220	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:62421220C>T	uc002ygv.1	-	2	1092	c.891G>A	c.(889-891)CCG>CCA	p.P297P	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	297					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)					GCAGGAAGGACGGCACCGGGG	0.632												
NRIP1	8204	broad.mit.edu	37	21	16339996	16339996	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:16339996T>G	uc002yjx.2	-	4	1116	c.518A>C	c.(517-519)AAG>ACG	p.K173T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	173	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCTTAAATCCTTCTCCACTTT	0.408												
USP25	29761	broad.mit.edu	37	21	17202863	17202863	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:17202863C>T	uc002yjy.1	+	15	1924	c.1707C>T	c.(1705-1707)AGC>AGT	p.S569S	USP25_uc011aby.1_Silent_p.S569S|USP25_uc002yjz.1_Silent_p.S569S|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	569	Potential.				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGCAGGAAAGCATATCCAGAA	0.289												
TMPRSS15	5651	broad.mit.edu	37	21	19647634	19647634	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:19647634C>T	uc002ykw.2	-	24	2815	c.2784G>A	c.(2782-2784)TTG>TTA	p.L928L		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	928	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CAGCTTCTTGCAATATGTTTG	0.398												
KRTAP19-7	337974	broad.mit.edu	37	21	31933569	31933569	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:31933569C>T	uc011adb.1	-	1	40	c.40G>A	c.(40-42)GGC>AGC	p.G14S		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	14						intermediate filament					0						CCTCCACAGCCGTAGCCTAGG	0.542												
TIAM1	7074	broad.mit.edu	37	21	32638798	32638798	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:32638798C>A	uc002yow.1	-	5	963	c.491G>T	c.(490-492)AGC>ATC	p.S164I	TIAM1_uc011adk.1_Missense_Mutation_p.S164I|TIAM1_uc011adl.1_Missense_Mutation_p.S164I|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTCTTAAAGCTCGCCGTCTC	0.507												
DNAJC28	54943	broad.mit.edu	37	21	34860883	34860883	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:34860883G>A	uc002yrv.2	-	2	1267	c.818C>T	c.(817-819)GCA>GTA	p.A273V	DNAJC28_uc002yrw.2_Missense_Mutation_p.A273V	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	273	Potential.						heat shock protein binding				0						CACTAAAATTGCCTCTCTGAG	0.383												
SON	6651	broad.mit.edu	37	21	34927501	34927501	+	Silent	SNP	T	T	C	rs139304331		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:34927501T>C	uc002yse.1	+	3	6013	c.5964T>C	c.(5962-5964)CCT>CCC	p.P1988P	SON_uc002ysb.1_Silent_p.P1988P|SON_uc002ysc.2_Silent_p.P1988P|SON_uc002ysd.2_Silent_p.P979P|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.P979P	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1988	2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						gccgcacccctagccgtcgga	0.154												
DOPEY2	9980	broad.mit.edu	37	21	37664458	37664458	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:37664458A>G	uc002yvg.2	+	36	6651	c.6572A>G	c.(6571-6573)GAT>GGT	p.D2191G	DOPEY2_uc011aeb.1_Missense_Mutation_p.D2140G	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2191					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTCCTGTCGGATGTAGAGGAG	0.433												
KCNJ6	3763	broad.mit.edu	37	21	39086527	39086527	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:39086527C>T	uc011aej.1	-	3	986	c.933G>A	c.(931-933)ATG>ATA	p.M311I	KCNJ6_uc002ywo.2_Missense_Mutation_p.M311I	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	311	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TGGCTTCCACCATTCCTTCTA	0.438												
BRWD1	54014	broad.mit.edu	37	21	40568902	40568902	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:40568902C>T	uc002yxk.1	-	41	6232	c.6093G>A	c.(6091-6093)AGG>AGA	p.R2031R	BRWD1_uc010goc.1_Silent_p.R674R|BRWD1_uc002yxl.2_Silent_p.R2031R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATTGGTATGCCTGTGCTTGT	0.398												
BRWD1	54014	broad.mit.edu	37	21	40668215	40668215	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:40668215T>A	uc002yxk.1	-	6	563	c.424A>T	c.(424-426)AAT>TAT	p.N142Y	BRWD1_uc002yxl.2_Missense_Mutation_p.N142Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAACCATAATTCACTGGCATT	0.383												
ZNF295	49854	broad.mit.edu	37	21	43413728	43413728	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:43413728T>G	uc002zab.3	-	3	691	c.477A>C	c.(475-477)CAA>CAC	p.Q159H	ZNF295_uc002yzz.3_Missense_Mutation_p.Q159H|ZNF295_uc002yzy.3_Missense_Mutation_p.Q159H|ZNF295_uc002zaa.3_Missense_Mutation_p.Q159H|ZNF295_uc010gov.1_Missense_Mutation_p.Q159H|ZNF295_uc002zac.2_Missense_Mutation_p.Q159H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	159					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTTTCCTTGCGCTTCGT	0.408												
WDR4	10785	broad.mit.edu	37	21	44283598	44283598	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:44283598G>A	uc002zci.2	-	4	478	c.405C>T	c.(403-405)CAC>CAT	p.H135H	WDR4_uc002zck.1_Silent_p.H135H|WDR4_uc002zcl.1_Translation_Start_Site|WDR4_uc010gpg.1_Silent_p.H135H|WDR4_uc011aew.1_Translation_Start_Site|WDR4_uc010gph.1_Translation_Start_Site	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	135					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCACACCCGTGTGGCTCCA	0.592												
TRPM2	7226	broad.mit.edu	37	21	45825124	45825124	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:45825124G>A	uc002zet.1	+	18	2851	c.2638G>A	c.(2638-2640)GTG>ATG	p.V880M	TRPM2_uc002zeu.1_Missense_Mutation_p.V880M|TRPM2_uc002zew.1_Missense_Mutation_p.V880M|TRPM2_uc010gpt.1_Missense_Mutation_p.V880M|TRPM2_uc002zex.1_Missense_Mutation_p.V666M|TRPM2_uc002zey.1_Missense_Mutation_p.V393M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	880	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTTGCTCTTCGTGGCAGGGCT	0.622												
UBE2G2	7327	broad.mit.edu	37	21	46193537	46193537	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:46193537C>T	uc002zfy.2	-	5	385	c.310G>A	c.(310-312)GAG>AAG	p.E104K	UBE2G2_uc002zfx.2_Missense_Mutation_p.E76K	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1	104				MGYESSA -> HGLREQP (in Ref. 1; AAC32312).	protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)		GCGCTGCTCTCGTAGCCCATG	0.627												
POFUT2	23275	broad.mit.edu	37	21	46689830	46689830	+	Silent	SNP	G	G	A	rs149698576	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:46689830G>A	uc002zhc.2	-	7	961	c.936C>T	c.(934-936)GCC>GCT	p.A312A	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.A312A	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	312					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TCTTCCTCACGGCCCCTTCCA	0.572												
COL6A1	1291	broad.mit.edu	37	21	47423458	47423458	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47423458T>C	uc002zhu.1	+	35	2720	c.2618T>C	c.(2617-2619)GTG>GCG	p.V873A	COL6A1_uc010gqd.1_Missense_Mutation_p.V204A|COL6A1_uc002zhv.1_Missense_Mutation_p.V204A|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	873	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GACGTGCGGGTGGCGGTGGTG	0.701												
COL6A2	1292	broad.mit.edu	37	21	47544809	47544809	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47544809G>C	uc002zia.1	+	23	1827	c.1745G>C	c.(1744-1746)GGC>GCC	p.G582A	COL6A2_uc002zhy.1_Missense_Mutation_p.G582A|COL6A2_uc002zhz.1_Missense_Mutation_p.G582A|COL6A2_uc002zib.1_5'UTR|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	582	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTGAGCCCGGCCCCCCTGGA	0.637												
LSS	4047	broad.mit.edu	37	21	47616150	47616150	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:47616150G>A	uc002zij.2	-	18	1781	c.1702C>T	c.(1702-1704)CGG>TGG	p.R568W	LSS_uc011afv.1_Missense_Mutation_p.R557W|LSS_uc002zil.2_Missense_Mutation_p.R568W|LSS_uc002zik.2_Missense_Mutation_p.R488W	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	568	PFTB 3.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TGCTGCCGCCGACAGAACTCT	0.552												
CABIN1	23523	broad.mit.edu	37	22	24462992	24462992	+	Missense_Mutation	SNP	C	C	G	rs145607829		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:24462992C>G	uc002zzi.1	+	16	2219	c.2092C>G	c.(2092-2094)CGG>GGG	p.R698G	CABIN1_uc002zzj.1_Missense_Mutation_p.R648G|CABIN1_uc002zzl.1_Missense_Mutation_p.R698G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	698					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGATTCAGCGGCTGTATGA	0.557												
GGT1	2678	broad.mit.edu	37	22	25023429	25023429	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:25023429G>A	uc003aan.1	+	12	1538	c.1051G>A	c.(1051-1053)GCT>ACT	p.A351T	GGT1_uc003aas.1_Missense_Mutation_p.A351T|GGT1_uc003aat.1_Missense_Mutation_p.A351T|GGT1_uc003aau.1_Missense_Mutation_p.A351T|GGT1_uc003aav.1_Missense_Mutation_p.A351T|GGT1_uc003aaw.1_Missense_Mutation_p.A351T|GGT1_uc003aax.1_Missense_Mutation_p.A351T|GGT1_uc003aay.1_Missense_Mutation_p.A7T	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	351	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CGAGTTCTTCGCTGCCCAGCT	0.647												
SEZ6L	23544	broad.mit.edu	37	22	26702070	26702070	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:26702070C>T	uc003acb.2	+	6	1630	c.1474C>T	c.(1474-1476)CAC>TAC	p.H492Y	SEZ6L_uc003acc.2_Missense_Mutation_p.H492Y|SEZ6L_uc011akc.1_Missense_Mutation_p.H492Y|SEZ6L_uc003acd.2_Missense_Mutation_p.H492Y|SEZ6L_uc011akd.1_Missense_Mutation_p.H492Y|SEZ6L_uc003ace.2_Missense_Mutation_p.H492Y|SEZ6L_uc003acf.1_Missense_Mutation_p.H265Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.H265Y	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	492	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCAGAAGCTGCACCTGCACTT	0.527												
EWSR1	2130	broad.mit.edu	37	22	29683003	29683003	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:29683003A>G	uc003aet.2	+	7	1001	c.673A>G	c.(673-675)AGC>GGC	p.S225G	EWSR1_uc003aes.3_Missense_Mutation_p.S225G|EWSR1_uc003aev.2_Missense_Mutation_p.S231G|EWSR1_uc003aew.2_Missense_Mutation_p.S169G|EWSR1_uc003aex.2_Missense_Mutation_p.S225G|EWSR1_uc003aey.2_Missense_Mutation_p.S20G|EWSR1_uc003aez.2_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	225	25.|EAD (Gln/Pro/Thr-rich).|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						ACAGCAGAGTAGCTATGGTCA	0.502			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
EWSR1	2130	broad.mit.edu	37	22	29693885	29693885	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:29693885C>T	uc003aet.2	+	13	1691	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	EWSR1_uc003aev.2_Missense_Mutation_p.R460W|EWSR1_uc003aew.2_Missense_Mutation_p.R399W|EWSR1_uc003aex.2_Missense_Mutation_p.R454W|EWSR1_uc003aey.2_Missense_Mutation_p.R250W|EWSR1_uc003aez.2_Missense_Mutation_p.R116W	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	455	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						GAACAGTATGCGGGGTGGTCT	0.488			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
NF2	4771	broad.mit.edu	37	22	30051659	30051659	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:30051659G>A	uc003age.3	+	6	1036	c.593G>A	c.(592-594)CGA>CAA	p.R198Q	NF2_uc003afy.3_Missense_Mutation_p.R198Q|NF2_uc003afz.3_Missense_Mutation_p.R115Q|NF2_uc003agf.3_Missense_Mutation_p.R198Q|NF2_uc003agb.3_Missense_Mutation_p.R121Q|NF2_uc003agc.3_Missense_Mutation_p.R160Q|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Missense_Mutation_p.R198Q|NF2_uc003aga.3_Missense_Mutation_p.R156Q|NF2_uc003agh.3_Missense_Mutation_p.R157Q|NF2_uc003agi.3_Missense_Mutation_p.R115Q|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.R160Q	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	198	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.R198*(3)|p.L127_D382del(1)|p.R198fs*4(1)|p.L140_P252del(1)|p.?(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						CACCGAGGCCGAGCCAGGTGA	0.398			D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2			
SEC14L4	284904	broad.mit.edu	37	22	30888485	30888485	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:30888485G>A	uc003aid.2	-	8	740	c.640C>T	c.(640-642)CGC>TGC	p.R214C	SEC14L4_uc011akz.1_Missense_Mutation_p.R214C|SEC14L4_uc003aie.2_Missense_Mutation_p.R199C|SEC14L4_uc003aif.2_Missense_Mutation_p.R160C	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	214	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	ATCTTCCTGCGTGTCTCCTCA	0.527												
RNF185	91445	broad.mit.edu	37	22	31583100	31583100	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:31583100C>T	uc003akb.2	+	2	220	c.20C>T	c.(19-21)TCG>TTG	p.S7L	RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_5'UTR|RNF185_uc003akc.2_5'UTR|RNF185_uc003ake.2_Missense_Mutation_p.S7L	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	ring finger protein 185 isoform 1	7						integral to membrane	zinc ion binding				0						AAGGGGCCCTCGGCCTCTGCA	0.587												
SFI1	9814	broad.mit.edu	37	22	32009168	32009168	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32009168C>G	uc003ale.2	+	25	2924	c.2531C>G	c.(2530-2532)GCC>GGC	p.A844G	SFI1_uc003alf.2_Missense_Mutation_p.A813G|SFI1_uc003alg.2_Missense_Mutation_p.A762G|SFI1_uc011alp.1_Missense_Mutation_p.A750G|SFI1_uc011alq.1_Missense_Mutation_p.A789G|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	844					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						ACAGTGCGGGCCCTGTGGTTC	0.617												
SLC5A4	6527	broad.mit.edu	37	22	32651216	32651216	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32651216A>G	uc003ami.2	-	1	103	c.101T>C	c.(100-102)ATC>ACC	p.I34T		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	34	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CAGAAAATAGATGACAATGAC	0.537												
FBXO7	25793	broad.mit.edu	37	22	32887092	32887092	+	Missense_Mutation	SNP	A	A	G	rs146429630		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:32887092A>G	uc003amq.2	+	6	1174	c.891A>G	c.(889-891)ATA>ATG	p.I297M	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amr.2_Missense_Mutation_p.I183M|FBXO7_uc003ams.2_Missense_Mutation_p.I141M|FBXO7_uc003amt.2_Missense_Mutation_p.I218M|FBXO7_uc003amu.2_Missense_Mutation_p.I183M|FBXO7_uc003amv.2_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	297					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TAGCCAACATATACAAAGATC	0.368												
APOL3	80833	broad.mit.edu	37	22	36541535	36541535	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:36541535C>T	uc003aot.2	-	2	374	c.336G>A	c.(334-336)GCG>GCA	p.A112A	APOL3_uc003aoq.2_Silent_p.A41A|APOL3_uc003aor.2_Silent_p.A41A|APOL3_uc003aos.2_Silent_p.A41A|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	112					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						GCAATTCAGCCGCAGTCACGA	0.562												
FOXRED2	80020	broad.mit.edu	37	22	36902213	36902213	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:36902213G>A	uc003apn.3	-	1	365	c.257C>T	c.(256-258)ACG>ATG	p.T86M	FOXRED2_uc003apo.3_Missense_Mutation_p.T86M|FOXRED2_uc003app.3_Missense_Mutation_p.T86M	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	86					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						AGCCTTGCCCGTGTACCGCTT	0.642												
GGA1	26088	broad.mit.edu	37	22	38021856	38021856	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38021856C>T	uc003atc.2	+	11	1358	c.993C>T	c.(991-993)GGC>GGT	p.G331G	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Silent_p.G331G|GGA1_uc003atf.2_Silent_p.G258G	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	331	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CGCCTGCGGGCACCACCTACC	0.652												
EIF3L	51386	broad.mit.edu	37	22	38273988	38273988	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38273988G>A	uc003auf.2	+	11	1472	c.1385G>A	c.(1384-1386)AGC>AAC	p.S462N	EIF3L_uc003aue.1_Missense_Mutation_p.S462N|EIF3L_uc011ann.1_Missense_Mutation_p.S414N|EIF3L_uc003aug.2_Missense_Mutation_p.S354N|EIF3L_uc003auh.2_Missense_Mutation_p.S195N	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	462						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						ACCATCCGCAGCTTCCTGAAG	0.542												
CSNK1E	1454	broad.mit.edu	37	22	38696761	38696761	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38696761C>T	uc003avj.2	-	5	794	c.533G>A	c.(532-534)CGC>CAC	p.R178H	CSNK1E_uc003avk.2_Missense_Mutation_p.R178H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R178H|CSNK1E_uc003avo.2_Missense_Mutation_p.R178H|CSNK1E_uc003avp.1_Missense_Mutation_p.R178H|CSNK1E_uc003avq.1_Missense_Mutation_p.R178H	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	178	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GGAAGCGTAGCGGGCCGTGCC	0.652												
APOBEC3F	200316	broad.mit.edu	37	22	39441119	39441119	+	Silent	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39441119G>C	uc003aww.2	+	3	638	c.345G>C	c.(343-345)CTG>CTC	p.L115L	APOBEC3F_uc011aog.1_Silent_p.L115L	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	116					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)					ATGTCACCCTGACCATCTCCG	0.597												
APOBEC3H	164668	broad.mit.edu	37	22	39496366	39496366	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39496366C>T	uc011aoh.1	+	2	149	c.83C>T	c.(82-84)GCC>GTC	p.A28V	APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	28					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)					CCGAGGAAGGCCCTCTTGTGT	0.567												
TAB1	10454	broad.mit.edu	37	22	39811581	39811581	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39811581C>T	uc003axt.2	+	3	296	c.247C>T	c.(247-249)CGG>TGG	p.R83W	TAB1_uc003axr.2_Missense_Mutation_p.R159W|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.R83W	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	83	PP2C-like.				activation of MAPK activity|activation of MAPKKK 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	catalytic activity|protein binding			breast(1)	1						CGTGGCCCAGCGGCTGTCCGC	0.627												
SMCR7L	54471	broad.mit.edu	37	22	39909840	39909840	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:39909840T>C	uc003axx.2	+	6	1402	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	SMCR7L_uc003axw.2_Missense_Mutation_p.Y302H|SMCR7L_uc010gxz.1_Missense_Mutation_p.Y124H|SMCR7L_uc003axy.2_Missense_Mutation_p.Y124H	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	302						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GGAGGTGCAGTATGAGCGTGA	0.572											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NAGA	4668	broad.mit.edu	37	22	42464549	42464549	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:42464549G>A	uc003bbx.2	-	3	183	c.46C>T	c.(46-48)CTG>TTG	p.L16L	NAGA_uc003bby.2_Silent_p.L16L|NAGA_uc003bbw.3_Silent_p.L16L	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	16					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						TCCAGCATCAGCACCTGGGCC	0.602												
ARFGAP3	26286	broad.mit.edu	37	22	43213821	43213821	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:43213821T>G	uc003bdd.2	-	10	1075	c.855A>C	c.(853-855)CAA>CAC	p.Q285H	ARFGAP3_uc010gzf.2_Missense_Mutation_p.Q241H|ARFGAP3_uc011apu.1_Missense_Mutation_p.Q213H	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	285					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						ctttcttcatttgaatttcaa	0.159												
FBLN1	2192	broad.mit.edu	37	22	45938087	45938087	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:45938087C>T	uc003bgj.1	+	10	1266	c.1119C>T	c.(1117-1119)TGC>TGT	p.C373C	FBLN1_uc003bgg.1_Silent_p.C373C|FBLN1_uc003bgh.2_Silent_p.C373C|FBLN1_uc010gzz.2_Silent_p.C411C|FBLN1_uc003bgi.1_Silent_p.C373C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	373	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACATCGCTGCGTGAACTCTC	0.567												
CELSR1	9620	broad.mit.edu	37	22	46806395	46806395	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:46806395T>C	uc003bhw.1	-	7	4833	c.4833A>G	c.(4831-4833)CCA>CCG	p.P1611P	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1611	Extracellular (Potential).|Laminin G-like 1.				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)		GGTTGTGCACTGGGAAGTCTT	0.602												
CELSR1	9620	broad.mit.edu	37	22	46929685	46929685	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:46929685G>T	uc003bhw.1	-	1	3383	c.3383C>A	c.(3382-3384)CCG>CAG	p.P1128Q		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1128	Extracellular (Potential).|Cadherin 9.				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)		GTCATGGGCCGGGATGCAGCC	0.607												
BRD1	23774	broad.mit.edu	37	22	50217218	50217218	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50217218A>G	uc003biv.2	-	1	1235	c.748T>C	c.(748-750)TAC>CAC	p.Y250H	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.Y250H|BRD1_uc011arh.1_Missense_Mutation_p.Y250H|BRD1_uc003biu.3_Missense_Mutation_p.Y250H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	250	PHD-type.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCGGGGATGTAGGGCACCCCG	0.642												
ZBED4	9889	broad.mit.edu	37	22	50278514	50278514	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50278514A>G	uc003bix.2	+	2	1674	c.1204A>G	c.(1204-1206)AAC>GAC	p.N402D		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	402						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTCTCACTTGAACCCTGGAGA	0.602												
MLC1	23209	broad.mit.edu	37	22	50523301	50523301	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50523301C>T	uc003bjg.1	-	2	304	c.31G>A	c.(31-33)GCC>ACC	p.A11T	MLC1_uc011arl.1_Missense_Mutation_p.A11T|MLC1_uc003bjh.1_Missense_Mutation_p.A11T|MLC1_uc011arm.1_Missense_Mutation_p.A11T|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.A11T	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	11						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)		CGGTCATAGGCCAGCTCCTCT	0.602												
TUBGCP6	85378	broad.mit.edu	37	22	50656674	50656674	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50656674G>A	uc003bkb.1	-	23	5624	c.5112C>T	c.(5110-5112)GGC>GGT	p.G1704G	TUBGCP6_uc003bka.1_Nonsense_Mutation_p.R781*|TUBGCP6_uc010har.1_Silent_p.G1696G|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1704					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTCCAGGTCGCCCACGGTGG	0.637												
HDAC10	83933	broad.mit.edu	37	22	50686566	50686566	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:50686566C>T	uc003bkg.2	-	13	1463	c.1090G>A	c.(1090-1092)GCT>ACT	p.A364T	HDAC10_uc003bke.2_Missense_Mutation_p.A90T|HDAC10_uc003bkf.2_Missense_Mutation_p.A90T|HDAC10_uc010hav.2_Missense_Mutation_p.A344T|HDAC10_uc003bkh.2_Missense_Mutation_p.A157T|HDAC10_uc003bki.2_Missense_Mutation_p.A314T|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	364					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGGCACAGCGGTCACATCT	0.647												
CPT1B	1375	broad.mit.edu	37	22	51016265	51016265	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:51016265G>C	uc003bmk.3	-	1	242	c.80C>G	c.(79-81)GCC>GGC	p.A27G	CPT1B_uc003bml.2_Missense_Mutation_p.A27G|CPT1B_uc003bmm.2_Missense_Mutation_p.A27G|CPT1B_uc003bmo.2_Missense_Mutation_p.A27G|CPT1B_uc011asa.1_Missense_Mutation_p.A27G|CPT1B_uc003bmn.2_Missense_Mutation_p.A27G|CPT1B_uc011asb.1_Missense_Mutation_p.A27G|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	27	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGTTTCAGGGCCTCCCGACT	0.632												
SHANK3	85358	broad.mit.edu	37	22	51117291	51117291	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:51117291C>T	uc003bne.1	+	5	543	c.543C>T	c.(541-543)CGC>CGT	p.R181R		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	181										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)		TCCGCACTCGCGATGGGCTCA	0.667												
CHL1	10752	broad.mit.edu	37	3	402087	402087	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:402087A>G	uc003bou.2	+	11	1509	c.1238A>G	c.(1237-1239)AAT>AGT	p.N413S	CHL1_uc003bot.2_Missense_Mutation_p.N429S|CHL1_uc003bow.1_Missense_Mutation_p.N413S|CHL1_uc011asi.1_Missense_Mutation_p.N429S	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	413	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCCTTGCCAATGCCAATATT	0.433												
CRELD1	78987	broad.mit.edu	37	3	9984784	9984784	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:9984784T>C	uc003bug.2	+	9	959	c.841T>C	c.(841-843)TGC>CGC	p.C281R	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.C281R|CRELD1_uc003buh.2_Missense_Mutation_p.C281R|CRELD1_uc003bui.2_Missense_Mutation_p.C281R|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	281	FU 2.|Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CTGCCTAGGCTGCATGGGGGC	0.622												
FANCD2	2177	broad.mit.edu	37	3	10140588	10140588	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:10140588A>G	uc003buw.2	+	43	4448	c.4370A>G	c.(4369-4371)TAT>TGT	p.Y1457C	FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1457					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)		TTGCCTACTTATGTTTATTGT	0.403			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
FGD5	152273	broad.mit.edu	37	3	14861657	14861657	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:14861657A>T	uc003bzc.2	+	1	1189	c.1079A>T	c.(1078-1080)GAG>GTG	p.E360V	FGD5_uc011avk.1_Missense_Mutation_p.E360V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	360					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						TTTTGCAGCGAGAGCTGTTCT	0.527												
TBC1D5	9779	broad.mit.edu	37	3	17447931	17447931	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:17447931C>A	uc003cbf.2	-	5	1920	c.255G>T	c.(253-255)AGG>AGT	p.R85S	TBC1D5_uc010hev.2_Missense_Mutation_p.R85S|TBC1D5_uc003cbe.2_Missense_Mutation_p.R85S|TBC1D5_uc010hew.1_Missense_Mutation_p.R37S	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	85	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TGCTGCGGAACCTGCTGCTTC	0.388												
SATB1	6304	broad.mit.edu	37	3	18456690	18456690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:18456690C>T	uc003cbh.2	-	5	2287	c.552G>A	c.(550-552)TGG>TGA	p.W184*	SATB1_uc003cbi.2_Nonsense_Mutation_p.W184*|SATB1_uc003cbj.2_Nonsense_Mutation_p.W184*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	184	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TGGTGTGCGACCATTGTTCGG	0.453												
NGLY1	55768	broad.mit.edu	37	3	25770727	25770727	+	Missense_Mutation	SNP	C	C	T	rs139134926	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:25770727C>T	uc003cdl.2	-	10	1616	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	NGLY1_uc010hfg.2_Missense_Mutation_p.R485H|NGLY1_uc003cdm.2_Missense_Mutation_p.R503H|NGLY1_uc011awo.1_Missense_Mutation_p.R461H|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	503	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						TCGAACATAACGATCTTTCAC	0.348												
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:27326096C>T	uc003cdt.1	-	23	2285	c.2011G>A	c.(2011-2013)GTT>ATT	p.V671I	NEK10_uc003cds.1_Missense_Mutation_p.V68I	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	671	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TACTTACTAACGGTTACTTTG	0.303												
OSBPL10	114884	broad.mit.edu	37	3	31712295	31712295	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:31712295A>G	uc003cev.2	-	10	2288	c.1907T>C	c.(1906-1908)GTC>GCC	p.V636A	OSBPL10_uc003ceu.1_Missense_Mutation_p.V393A|OSBPL10_uc011axf.1_Missense_Mutation_p.V572A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	636					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		CTACCTGTGGACTTTCCCTCC	0.502												
GOLGA4	2803	broad.mit.edu	37	3	37340400	37340400	+	Silent	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:37340400T>G	uc003cgv.2	+	8	1195	c.891T>G	c.(889-891)CGT>CGG	p.R297R	GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Silent_p.R319R|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.R178R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	297	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TACTTAAGCGTTGTAAGGAAA	0.373												
ITGA9	3680	broad.mit.edu	37	3	37574822	37574822	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:37574822C>T	uc003chd.2	+	14	1444	c.1391C>T	c.(1390-1392)ACG>ATG	p.T464M	ITGA9_uc003chc.2_Missense_Mutation_p.T464M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	464	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTGTCATTACGGTGGATGTC	0.542												
ACVR2B	93	broad.mit.edu	37	3	38518872	38518872	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:38518872C>T	uc003cif.2	+	2	171	c.147C>T	c.(145-147)TGC>TGT	p.C49C	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	49	Extracellular (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGGAGCGCTGCGAAGGCGAGC	0.637												
XIRP1	165904	broad.mit.edu	37	3	39230481	39230481	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:39230481G>A	uc003cjk.1	-	2	677	c.456C>T	c.(454-456)GAC>GAT	p.D152D	XIRP1_uc003cji.2_Silent_p.D152D|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	152	Xin 3.						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)		CTGCACGAACGTCTCCTCCAC	0.622												
CTNNB1	1499	broad.mit.edu	37	3	41275213	41275213	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:41275213T>C	uc010hia.1	+	10	1535	c.1379T>C	c.(1378-1380)ATC>ACC	p.I460T	CTNNB1_uc003ckp.2_Missense_Mutation_p.I460T|CTNNB1_uc003ckq.2_Missense_Mutation_p.I460T|CTNNB1_uc003ckr.2_Missense_Mutation_p.I460T|CTNNB1_uc011azf.1_Missense_Mutation_p.I453T|CTNNB1_uc011azg.1_Missense_Mutation_p.I388T|CTNNB1_uc003cks.2_Missense_Mutation_p.I63T|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	460	ARM 8.				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)	AGGGAAGACATCACTGAGCCT	0.507		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
NKTR	4820	broad.mit.edu	37	3	42679502	42679502	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:42679502C>T	uc003clo.2	+	13	2453	c.2306C>T	c.(2305-2307)TCA>TTA	p.S769L	NKTR_uc003clm.1_Missense_Mutation_p.S516L|NKTR_uc003clp.2_Missense_Mutation_p.S516L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S659L|NKTR_uc003clr.1_Missense_Mutation_p.S516L|NKTR_uc003cls.2_Missense_Mutation_p.S469L	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	769	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AATAGCGTTTCACATAAAAAG	0.398												
ZNF197	10168	broad.mit.edu	37	3	44673974	44673974	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:44673974A>G	uc003cnm.2	+	5	858	c.652A>G	c.(652-654)ATG>GTG	p.M218V	ZNF197_uc003cnn.2_Missense_Mutation_p.M218V|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.M218V	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	218	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAGTTGGTGATGTTCGAGGA	0.498												
LARS2	23395	broad.mit.edu	37	3	45530204	45530204	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:45530204G>A	uc003cop.1	+	12	1324	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	LARS2_uc010hit.1_Missense_Mutation_p.S337N	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCCAGTACTAGCTCAGAGGAC	0.473												
LARS2	23395	broad.mit.edu	37	3	45554714	45554714	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:45554714A>C	uc003cop.1	+	16	2033	c.1848A>C	c.(1846-1848)GAA>GAC	p.E616D	LARS2_uc010hit.1_Missense_Mutation_p.E573D	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	616					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAGAGAGGAAGTGGATCTCA	0.547												
ALS2CL	259173	broad.mit.edu	37	3	46712551	46712551	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:46712551A>C	uc003cqa.1	-	26	2975	c.2785T>G	c.(2785-2787)TGT>GGT	p.C929G	ALS2CL_uc003cpx.1_Missense_Mutation_p.C276G|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.C444G|ALS2CL_uc003cqb.1_Missense_Mutation_p.C929G|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	929	VPS9.				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)		TGCTCGTAACAGGACTGGAGG	0.587												
CSPG5	10675	broad.mit.edu	37	3	47614327	47614327	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:47614327G>A	uc003crp.3	-	3	1407	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	CSPG5_uc003crn.2_Missense_Mutation_p.R273C|CSPG5_uc003cro.3_Missense_Mutation_p.R411C|CSPG5_uc011bbb.1_Missense_Mutation_p.R273C	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	411	EGF-like.|Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GACTCGCAGCGCATCCCCTTG	0.612												
FBXW12	285231	broad.mit.edu	37	3	48423258	48423258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48423258G>T	uc003csr.2	+	9	1240	c.1054G>T	c.(1054-1056)GGA>TGA	p.G352*	FBXW12_uc010hjv.2_Nonsense_Mutation_p.G333*|FBXW12_uc003css.2_Nonsense_Mutation_p.G282*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.G251*	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	352	WD 4.										0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCCAGTGATGGATATATGAT	0.448												
PLXNB1	5364	broad.mit.edu	37	3	48454330	48454330	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48454330G>T	uc003csw.2	-	25	4945	c.4675C>A	c.(4675-4677)CTG>ATG	p.L1559M	PLXNB1_uc003cst.2_Missense_Mutation_p.L9M|PLXNB1_uc003csu.2_Missense_Mutation_p.L1376M|PLXNB1_uc003csx.2_Missense_Mutation_p.L1559M	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1559	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCTGCCCAGGAGGTCACTG	0.587												
CELSR3	1951	broad.mit.edu	37	3	48667139	48667139	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48667139T>C	uc003cuf.1	-	50	11750	c.11750A>G	c.(11749-11751)CAC>CGC	p.H3917R	SLC26A6_uc003cug.2_Missense_Mutation_p.H491R|SLC26A6_uc003cuh.2_Missense_Mutation_p.H512R|SLC26A6_uc010hke.2_Missense_Mutation_p.H363R|SLC26A6_uc003cuk.2_Missense_Mutation_p.H405R|SLC26A6_uc003cui.2_Missense_Mutation_p.H512R|SLC26A6_uc003cuj.2_Missense_Mutation_p.H512R|SLC26A6_uc011bbp.1_Missense_Mutation_p.H476R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACAGAGTAGTGGGGCCTGTG	0.557												
CELSR3	1951	broad.mit.edu	37	3	48697746	48697746	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48697746A>G	uc003cul.2	-	1	2603	c.2322T>C	c.(2320-2322)AGT>AGC	p.S774S	CELSR3_uc003cuf.1_Silent_p.S844S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	774	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGACCACACTGGTGCCCA	0.562												
IP6K2	51447	broad.mit.edu	37	3	48726074	48726074	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48726074C>A	uc003cup.2	-	6	1157	c.913G>T	c.(913-915)GGC>TGC	p.G305C	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.G305C	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	305					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						AGCACAGGGCCCAGGAGTTCA	0.547												
PRKAR2A	5576	broad.mit.edu	37	3	48820505	48820505	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:48820505G>A	uc010hki.1	-	5	697	c.456C>T	c.(454-456)CTC>CTT	p.L152L	PRKAR2A_uc003cux.1_Silent_p.L152L|PRKAR2A_uc003cuy.1_Silent_p.L152L	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	152	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		ACATGGCATCGAGAACTTGAG	0.393												
P4HTM	54681	broad.mit.edu	37	3	49044327	49044327	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:49044327G>A	uc003cvg.2	+	9	1845	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	P4HTM_uc003cvh.2_Missense_Mutation_p.R560H|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	499	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CGCGATGCGCGCGTGGAACTC	0.667												
MST1R	4486	broad.mit.edu	37	3	49934714	49934714	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:49934714G>A	uc003cxy.3	-	7	2446	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	MST1R_uc011bdd.1_Missense_Mutation_p.R728W|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	728	IPT/TIG 2.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTACTTACCGTGCTAGCAGA	0.597												
SEMA3F	6405	broad.mit.edu	37	3	50197137	50197137	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50197137G>A	uc003cyj.2	+	2	280	c.82G>A	c.(82-84)GCC>ACC	p.A28T	SEMA3F_uc003cyk.2_Missense_Mutation_p.A28T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	28					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCACCTCCCGGCCACGCCCCG	0.602												
NAT6	24142	broad.mit.edu	37	3	50334195	50334195	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50334195T>C	uc003czi.2	-	2	803	c.700A>G	c.(700-702)AGG>GGG	p.R234G	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R256G|NAT6_uc003czk.3_Missense_Mutation_p.R234G|NAT6_uc003czl.1_Missense_Mutation_p.R234G	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	234						cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTGGGACCCCTTGGGGCAGCT	0.652												
CACNA2D2	9254	broad.mit.edu	37	3	50403525	50403525	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:50403525G>A	uc003daq.2	-	33	2838	c.2800C>T	c.(2800-2802)CGC>TGC	p.R934C	CACNA2D2_uc003dap.2_Missense_Mutation_p.R927C|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	934	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GACTCCTTGCGGGTGTAGAAG	0.577												
VPRBP	9730	broad.mit.edu	37	3	51457723	51457723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51457723G>A	uc003dbe.1	-	14	2869	c.2701C>T	c.(2701-2703)CGA>TGA	p.R901*	VPRBP_uc003dbf.1_Nonsense_Mutation_p.R177*	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	901					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CGAGGGGTTCGGGGTAGAGAG	0.587												
GRM2	2912	broad.mit.edu	37	3	51743220	51743220	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51743220G>A	uc010hlv.2	+	2	460	c.221G>A	c.(220-222)CGT>CAT	p.R74H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	74	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGCATCAACCGTGACCCGCAC	0.627												
IQCF2	389123	broad.mit.edu	37	3	51897123	51897123	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51897123C>T	uc003dbt.1	+	3	270	c.232C>T	c.(232-234)CGG>TGG	p.R78W	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	78											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGCTGGTGGCGGATGACGCT	0.602												
RRP9	9136	broad.mit.edu	37	3	51970287	51970287	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:51970287G>A	uc003dbw.1	-	8	760	c.721C>T	c.(721-723)CGG>TGG	p.R241W		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	241	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACTGCATCCCGGTGTCCTGTG	0.557												
WDR82	80335	broad.mit.edu	37	3	52295479	52295479	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52295479T>C	uc003ddl.2	-	4	625	c.343A>G	c.(343-345)ATG>GTG	p.M115V	WDR82_uc003ddk.2_Missense_Mutation_p.M40V	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	115	WD 2.				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				0				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACAGGTGACATGGACAAGGCC	0.443												
TNNC1	7134	broad.mit.edu	37	3	52485532	52485532	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52485532C>A	uc003deb.2	-	5	355	c.329G>T	c.(328-330)GGC>GTC	p.G110V		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	110	EF-hand 3.|2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GTCGATGTAGCCATCAGCATT	0.607												
GLT8D1	55830	broad.mit.edu	37	3	52730292	52730292	+	Missense_Mutation	SNP	C	C	T	rs140103588		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52730292C>T	uc003dfi.3	-	6	629	c.490G>A	c.(490-492)GCA>ACA	p.A164T	GLT8D1_uc003dfj.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfk.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfl.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfm.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfn.2_Missense_Mutation_p.A164T|GLT8D1_uc003dfo.1_Missense_Mutation_p.A164T	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	164	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)		GCCTTCTTTGCGCTGGGAACC	0.408												
DCP1A	55802	broad.mit.edu	37	3	53326499	53326499	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:53326499G>A	uc003dgs.3	-	7	1076	c.983C>T	c.(982-984)ACT>ATT	p.T328I	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	328					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AACCTGTGCAGTAGGAGCTTC	0.557												
PTPRG	5793	broad.mit.edu	37	3	62254810	62254810	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:62254810G>A	uc003dlb.2	+	20	3694	c.2975G>A	c.(2974-2976)CGT>CAT	p.R992H	PTPRG_uc003dlc.2_Missense_Mutation_p.R963H|PTPRG_uc011bfi.1_Missense_Mutation_p.R238H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	992	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACACTGTTCGTCGTTTTTCA	0.393												
PRICKLE2	166336	broad.mit.edu	37	3	64133333	64133333	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:64133333G>A	uc003dmf.2	-	7	1419	c.833C>T	c.(832-834)GCC>GTC	p.A278V		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	278	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTCTCAGTGGCATGCCAGTG	0.537												
ADAMTS9	56999	broad.mit.edu	37	3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:64527080G>A	uc003dmg.2	-	35	5335	c.5303C>T	c.(5302-5304)GCG>GTG	p.A1768V	ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1740V|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A679V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1768	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463												
MAGI1	9223	broad.mit.edu	37	3	65349248	65349248	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:65349248T>C	uc003dmn.2	-	21	3913	c.3387A>G	c.(3385-3387)GGA>GGG	p.G1129G	MAGI1_uc003dmm.2_Silent_p.G1157G|MAGI1_uc003dmo.2_Silent_p.G1158G|MAGI1_uc003dmp.2_Silent_p.G1062G	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1158	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCCCTTGGCTCCTCTTTCCA	0.443												
ZBTB11	27107	broad.mit.edu	37	3	101390079	101390079	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:101390079A>G	uc003dve.3	-	3	903	c.673T>C	c.(673-675)TAC>CAC	p.Y225H	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	225	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGAGCTTTGTACTCTTCTCCT	0.388												
ALCAM	214	broad.mit.edu	37	3	105258914	105258914	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:105258914C>T	uc003dvx.2	+	7	1366	c.826C>T	c.(826-828)CCT>TCT	p.P276S	ALCAM_uc003dvw.1_Missense_Mutation_p.P276S|ALCAM_uc003dvy.2_Missense_Mutation_p.P276S|ALCAM_uc011bhh.1_Missense_Mutation_p.P225S|ALCAM_uc010hpp.2_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	276	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						GAATGGCAACCCTCCCCCAGA	0.398												
CBLB	868	broad.mit.edu	37	3	105400357	105400357	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:105400357C>T	uc003dwc.2	-	16	2716	c.2394G>A	c.(2392-2394)ACG>ACA	p.T798T	CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Silent_p.T798T|CBLB_uc003dwe.1_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	798	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AATCAGAGGGCGTCCTGTTGA	0.438			Mis S		AML							
DZIP3	9666	broad.mit.edu	37	3	108373083	108373083	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:108373083G>C	uc003dxd.2	+	19	2547	c.2125G>C	c.(2125-2127)GTT>CTT	p.V709L	DZIP3_uc003dxf.1_Missense_Mutation_p.V709L|DZIP3_uc011bhm.1_Missense_Mutation_p.V160L|DZIP3_uc003dxg.1_Missense_Mutation_p.V432L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	709					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGCAAGTGATGTTCAAGAGGA	0.423												
WDR52	55779	broad.mit.edu	37	3	113099764	113099764	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:113099764A>G	uc003eae.1	-	16	2080	c.2034T>C	c.(2032-2034)AGT>AGC	p.S678S		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	678										central_nervous_system(1)	1						TAGATTTGACACTTGAAAAAT	0.289												
TMEM39A	55254	broad.mit.edu	37	3	119165887	119165887	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:119165887T>C	uc003eck.1	-	5	916	c.553A>G	c.(553-555)AAT>GAT	p.N185D	TMEM39A_uc003ecl.1_Missense_Mutation_p.N33D	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	185	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		AAAAGGAGATTGAGGACTGAA	0.408												
STXBP5L	9515	broad.mit.edu	37	3	120957878	120957878	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:120957878A>G	uc003eec.3	+	13	1385	c.1245A>G	c.(1243-1245)ACA>ACG	p.T415T	STXBP5L_uc011bji.1_Silent_p.T415T	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	415	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TTACATGCACAGCATACTTTG	0.323												
POLQ	10721	broad.mit.edu	37	3	121248490	121248490	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:121248490A>G	uc003eee.3	-	7	1237	c.1108_splice	c.e7+1	p.G370_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCCATAACTCACCCTCAGCTT	0.358								DNA_polymerases_(catalytic_subunits)				
PARP14	54625	broad.mit.edu	37	3	122437467	122437467	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:122437467A>G	uc003efq.3	+	14	4528	c.4469A>G	c.(4468-4470)CAT>CGT	p.H1490R	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.H1207R|PARP14_uc003efs.1_Missense_Mutation_p.H1207R	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TCCCTGGACCATAAGAGACCT	0.398												
RUVBL1	8607	broad.mit.edu	37	3	127801405	127801405	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:127801405G>A	uc003ekh.2	-	10	1236	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Intron	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	378					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GTCTGGGCACGGATTTTAATG	0.473												
IFT122	55764	broad.mit.edu	37	3	129185901	129185901	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:129185901C>T	uc003emm.2	+	8	938	c.732C>T	c.(730-732)GAC>GAT	p.D244D	IFT122_uc003eml.2_Silent_p.D295D|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Silent_p.D94D|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	244					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GTCCCAGGGACGACAACTTGT	0.542												
ATP2C1	27032	broad.mit.edu	37	3	130716593	130716593	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:130716593G>A	uc003enl.2	+	25	2609	c.2387G>A	c.(2386-2388)CGT>CAT	p.R796H	ATP2C1_uc011blg.1_Missense_Mutation_p.R830H|ATP2C1_uc011blh.1_Missense_Mutation_p.R791H|ATP2C1_uc011bli.1_Missense_Mutation_p.R830H|ATP2C1_uc003enk.2_Missense_Mutation_p.R780H|ATP2C1_uc003enm.2_Missense_Mutation_p.R796H|ATP2C1_uc003enn.2_Missense_Mutation_p.R780H|ATP2C1_uc003eno.2_Missense_Mutation_p.R796H|ATP2C1_uc003enp.2_Missense_Mutation_p.R796H|ATP2C1_uc003enq.2_Missense_Mutation_p.R796H|ATP2C1_uc003enr.2_Missense_Mutation_p.R796H|ATP2C1_uc003ens.2_Missense_Mutation_p.R796H|ATP2C1_uc003ent.2_Missense_Mutation_p.R796H|ATP2C1_uc003enu.2_Missense_Mutation_p.R474H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	796	Lumenal (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTCTTCTGGCGTGAGGTATAT	0.368									Hailey-Hailey_disease			
EPHB1	2047	broad.mit.edu	37	3	134825395	134825395	+	Missense_Mutation	SNP	G	G	T	rs143323362	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:134825395G>T	uc003eqt.2	+	4	1131	c.911G>T	c.(910-912)CGG>CTG	p.R304L	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Nonsense_Mutation_p.G193*|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	304	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGCACCTGTCGGACCGGTTAT	0.592												
PPP2R3A	5523	broad.mit.edu	37	3	135745935	135745935	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:135745935G>A	uc003eqv.1	+	3	2822	c.2257G>A	c.(2257-2259)GCA>ACA	p.A753T	PPP2R3A_uc011blz.1_Missense_Mutation_p.A17T|PPP2R3A_uc003eqw.1_Missense_Mutation_p.A132T|PPP2R3A_uc011bma.1_RNA	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	753					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GGGGAAAATTGCAAAGGTAAT	0.398												
PCCB	5096	broad.mit.edu	37	3	136002741	136002741	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:136002741T>C	uc003eqy.1	+	6	657	c.606T>C	c.(604-606)GGT>GGC	p.G202G	PCCB_uc003eqz.1_Silent_p.G202G|PCCB_uc011bmc.1_Silent_p.G222G|PCCB_uc011bmd.1_Silent_p.G119G	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	202	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CATGTGCTGGTGGGGCCGTCT	0.493												
NMNAT3	349565	broad.mit.edu	37	3	139279978	139279978	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:139279978T>C	uc003etj.2	-	4	673	c.633A>G	c.(631-633)CAA>CAG	p.Q211Q	NMNAT3_uc003etk.2_Silent_p.Q174Q|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Silent_p.Q122Q	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	211					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						CGCTCTGCCCTTGGCCCAAGG	0.542												
ZBTB38	253461	broad.mit.edu	37	3	141162737	141162737	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:141162737A>G	uc003etw.2	+	8	2489	c.1507A>G	c.(1507-1509)AGG>GGG	p.R503G	ZBTB38_uc010hun.2_Missense_Mutation_p.R500G|ZBTB38_uc010huo.2_Missense_Mutation_p.R503G|ZBTB38_uc003ety.2_Missense_Mutation_p.R503G|ZBTB38_uc010hup.2_Missense_Mutation_p.R504G	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	503	C2H2-type 4.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGCTGAGTACAGGACAAGGCA	0.398												
ATP1B3	483	broad.mit.edu	37	3	141626115	141626115	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:141626115A>G	uc003eug.1	+	3	519	c.345A>G	c.(343-345)AAA>AAG	p.K115K	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.K101K	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	115	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						AGTTTCTAAAACGTGAGTATG	0.294												
MED12L	116931	broad.mit.edu	37	3	151101884	151101884	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:151101884A>G	uc003eyp.2	+	33	4737	c.4699A>G	c.(4699-4701)ACA>GCA	p.T1567A	MED12L_uc011bnz.1_Missense_Mutation_p.T1427A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.T730A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1567					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTATTCACAACAGTTCTTGA	0.343												
IGSF10	285313	broad.mit.edu	37	3	151163001	151163001	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:151163001G>A	uc011bod.1	-	4	4768	c.4768C>T	c.(4768-4770)CCA>TCA	p.P1590S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1590					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACTTCTGGCTTTTTGCCT	0.413												
P2RY1	5028	broad.mit.edu	37	3	152554485	152554485	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:152554485C>G	uc003ezq.2	+	1	1750	c.914C>G	c.(913-915)ACG>AGG	p.T305R		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	305	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTTTATGCCACGTATCAGGTG	0.483												
SMC4	10051	broad.mit.edu	37	3	160122248	160122248	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:160122248A>G	uc003fdh.2	+	5	756	c.643A>G	c.(643-645)AGC>GGC	p.S215G	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.S215G|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S190G|SMC4_uc003fdj.2_Missense_Mutation_p.S215G|SMC4_uc010hwd.2_Missense_Mutation_p.S215G|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTCTTCGAAGCCATGGAAT	0.303												
C3orf57	165679	broad.mit.edu	37	3	161064099	161064099	+	Missense_Mutation	SNP	G	G	A	rs144350794		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:161064099G>A	uc003fee.2	-	3	787	c.13C>T	c.(13-15)CGT>TGT	p.R5C		NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	ADMP	5	Cytoplasmic (Potential).				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding				0			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCCTTCACACGCCTCAAATCC	0.408												
ZBBX	79740	broad.mit.edu	37	3	167086318	167086318	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:167086318T>G	uc003fep.2	-	5	436	c.113A>C	c.(112-114)GAG>GCG	p.E38A	ZBBX_uc011bpc.1_Missense_Mutation_p.E38A|ZBBX_uc003feq.2_Missense_Mutation_p.E9A	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	38	Potential.					intracellular	zinc ion binding			ovary(2)	2						CTCTTGGTTCTCAAACTCTAA	0.358												
GOLIM4	27333	broad.mit.edu	37	3	167742312	167742312	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:167742312A>G	uc003ffe.2	-	14	2204	c.1860_splice	c.e14+1	p.E620_splice	GOLIM4_uc011bpe.1_Splice_Site_p.E621_splice|GOLIM4_uc011bpf.1_Splice_Site_p.E593_splice|GOLIM4_uc011bpg.1_Splice_Site_p.E592_splice	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4						transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						AATCCTTACTACCTCCTCTTC	0.453												
SAMD7	344658	broad.mit.edu	37	3	169644902	169644902	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:169644902G>T	uc003fgd.2	+	6	1119	c.852G>T	c.(850-852)GAG>GAT	p.E284D	SAMD7_uc003fge.2_Missense_Mutation_p.E284D|SAMD7_uc011bpo.1_Missense_Mutation_p.E185D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	284										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCTTCGGAGCAGATTTTTG	0.567												
PLD1	5337	broad.mit.edu	37	3	171379864	171379864	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:171379864A>G	uc003fhs.2	-	20	2442	c.2326T>C	c.(2326-2328)TAT>CAT	p.Y776H	PLD1_uc003fht.2_Missense_Mutation_p.Y738H|PLD1_uc003fhu.3_Missense_Mutation_p.Y70H|PLD1_uc003fhv.1_Missense_Mutation_p.Y101H	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	776	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATATAGATATAGTGCCTGCTG	0.458												
PLD1	5337	broad.mit.edu	37	3	171406484	171406484	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:171406484C>T	uc003fhs.2	-	14	1637	c.1521G>A	c.(1519-1521)CCG>CCA	p.P507P	PLD1_uc003fht.2_Silent_p.P507P	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	507	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AACCCAGAGACGGTCCTGAAG	0.453												
ECT2	1894	broad.mit.edu	37	3	172523602	172523602	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:172523602A>C	uc003fii.2	+	20	2233	c.2095A>C	c.(2095-2097)ATT>CTT	p.I699L	ECT2_uc010hwv.1_Missense_Mutation_p.I730L|ECT2_uc003fih.2_Missense_Mutation_p.I698L|ECT2_uc003fij.1_Missense_Mutation_p.I699L|ECT2_uc003fik.1_Missense_Mutation_p.I699L|ECT2_uc003fil.1_Missense_Mutation_p.I730L|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	699	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTAAGCATATTCACCTAAT	0.388												
SPATA16	83893	broad.mit.edu	37	3	172634270	172634270	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:172634270C>T	uc003fin.3	-	9	1498	c.1340G>A	c.(1339-1341)GGG>GAG	p.G447E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	447					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGAAAACTCCCCTAGTCTCA	0.458												
NLGN1	22871	broad.mit.edu	37	3	173322455	173322455	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:173322455C>T	uc003fio.1	+	3	490	c.67C>T	c.(67-69)CGG>TGG	p.R23W	NLGN1_uc010hww.1_Missense_Mutation_p.R23W|NLGN1_uc003fip.1_Missense_Mutation_p.R23W	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTGGTACACCGGGGATTGGG	0.507												
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:178916726G>A	uc003fjk.2	+	2	270	c.113G>A	c.(112-114)CGT>CAT	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
NDUFB5	4711	broad.mit.edu	37	3	179341807	179341807	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:179341807G>A	uc003fkc.2	+	6	578	c.549G>A	c.(547-549)CCG>CCA	p.P183P	NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Silent_p.P131P	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	183					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	ATCATTCTCCGAAAGCAACTC	0.338												
CCDC39	339829	broad.mit.edu	37	3	180349276	180349276	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:180349276T>C	uc010hxe.2	-	14	2094	c.1979A>G	c.(1978-1980)CAG>CGG	p.Q660R	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	660					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAATAGGCCTGTGTTTTCTC	0.338												
MCF2L2	23101	broad.mit.edu	37	3	182933788	182933788	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:182933788G>A	uc003fli.1	-	22	2555	c.2465C>T	c.(2464-2466)GCT>GTT	p.A822V		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAGGTCCACAGCCAACTCACA	0.458												
KLHL6	89857	broad.mit.edu	37	3	183226231	183226231	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183226231A>G	uc003flr.2	-	3	583	c.525T>C	c.(523-525)GTT>GTC	p.V175V	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.V173V	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	175	BACK.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGTATTCCAACGCAGTTTT	0.433												
YEATS2	55689	broad.mit.edu	37	3	183446626	183446626	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183446626C>A	uc003fly.2	+	7	994	c.799C>A	c.(799-801)CTT>ATT	p.L267I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	267	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCAAATGACCTTGTGGAAGT	0.378												
DVL3	1857	broad.mit.edu	37	3	183881466	183881466	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:183881466G>A	uc003fms.2	+	2	323	c.183G>A	c.(181-183)TCG>TCA	p.S61S	DVL3_uc011bqw.1_Silent_p.S61S|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	61	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGAGATCTCGGATGACAATG	0.567												
PSMD2	5708	broad.mit.edu	37	3	184024258	184024258	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:184024258C>T	uc003fnn.1	+	15	1958	c.1925C>T	c.(1924-1926)GCC>GTC	p.A642V	PSMD2_uc011brj.1_Missense_Mutation_p.A483V|PSMD2_uc011brk.1_Missense_Mutation_p.A512V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	642					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	aagaaggaagCCCCTGCTGAC	0.378												
EIF4G1	1981	broad.mit.edu	37	3	184044344	184044344	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:184044344C>A	uc003fnp.2	+	22	3450	c.3252C>A	c.(3250-3252)CTC>CTA	p.L1084L	EIF4G1_uc003fnt.2_Silent_p.L795L|EIF4G1_uc003fnq.2_Silent_p.L997L|EIF4G1_uc003fnr.2_Silent_p.L920L|EIF4G1_uc010hxx.2_Silent_p.L1091L|EIF4G1_uc003fns.2_Silent_p.L1044L|EIF4G1_uc010hxy.2_Silent_p.L1091L|EIF4G1_uc003fnv.3_Silent_p.L1085L|EIF4G1_uc003fnu.3_Silent_p.L1084L|EIF4G1_uc003fnw.2_Silent_p.L1091L|EIF4G1_uc003fnx.2_Silent_p.L889L|EIF4G1_uc003fny.3_Silent_p.L888L|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1084	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACCAGCTCTTTGCACCTG	0.592												
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:185407235C>T	uc003fpo.2	-	6	664	c.585G>A	c.(583-585)CCG>CCA	p.P195P	IGF2BP2_uc010hyi.2_Silent_p.P138P|IGF2BP2_uc010hyj.2_Silent_p.P132P|IGF2BP2_uc010hyk.2_Silent_p.P59P|IGF2BP2_uc010hyl.2_Silent_p.P132P|IGF2BP2_uc003fpp.2_Silent_p.P195P|IGF2BP2_uc003fpq.2_Silent_p.P200P	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	195	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622												
HRG	3273	broad.mit.edu	37	3	186395475	186395475	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:186395475C>T	uc003fqq.2	+	7	1404	c.1381C>T	c.(1381-1383)CTC>TTC	p.L461F		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	461	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGTGTACCGACTCCCTCCTCT	0.547												
BCL6	604	broad.mit.edu	37	3	187447537	187447537	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:187447537G>T	uc003frp.3	-	5	1113	c.656C>A	c.(655-657)CCT>CAT	p.P219H	BCL6_uc011bsf.1_Missense_Mutation_p.P219H|BCL6_uc010hza.2_Missense_Mutation_p.P117H|BCL6_uc003frq.1_Missense_Mutation_p.P219H	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	219					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGCCACAGGCATCCGGAC	0.612			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
FGF12	2257	broad.mit.edu	37	3	192125831	192125831	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:192125831G>T	uc003fsx.2	-	1	1008	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	61					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCGCCTCACCGGCCTCTTGCG	0.672												
GP5	2814	broad.mit.edu	37	3	194118947	194118947	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:194118947G>A	uc003ftv.1	-	2	96	c.65C>T	c.(64-66)CCG>CTG	p.P22L		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	22	LRRNT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCAAGCTGGCGGACAGGGGAA	0.662												
C3orf21	152002	broad.mit.edu	37	3	194790481	194790481	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:194790481T>C	uc003fum.3	-	4	1253	c.1145A>G	c.(1144-1146)TAC>TGC	p.Y382C	C3orf21_uc003ful.2_Missense_Mutation_p.Y179C|C3orf21_uc003fuk.2_Missense_Mutation_p.Y176C	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	382						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GTTCCCGTGGTAGATCTTGAC	0.627												
BDH1	622	broad.mit.edu	37	3	197238857	197238857	+	Missense_Mutation	SNP	C	C	T	rs144840608	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:197238857C>T	uc003fxr.2	-	8	1343	c.941G>A	c.(940-942)CGC>CAC	p.R314H	BDH1_uc003fxs.2_Missense_Mutation_p.R314H|BDH1_uc003fxt.2_Missense_Mutation_p.R227H|BDH1_uc003fxu.2_Missense_Mutation_p.R314H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	314					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGGTGGTAGCGGGTGTAGGG	0.587												
PIGG	54872	broad.mit.edu	37	4	524279	524279	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:524279G>A	uc003gak.3	+	11	2452	c.2316G>A	c.(2314-2316)ACG>ACA	p.T772T	PIGG_uc003gaj.3_Silent_p.T764T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.T639T|PIGG_uc003gal.3_Silent_p.T683T	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	772	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTCTGTTCACGGGCACCAAAG	0.383												
PDE6B	5158	broad.mit.edu	37	4	651213	651213	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:651213G>A	uc003gap.2	+	10	1384	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	PDE6B_uc003gao.3_Missense_Mutation_p.R444H|PDE6B_uc011buy.1_Missense_Mutation_p.R165H|uc003gaq.1_5'Flank	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	444					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CTGGAGAACCGCAAGGACATC	0.597												
CRIPAK	285464	broad.mit.edu	37	4	1389482	1389482	+	Missense_Mutation	SNP	G	G	A	rs138375760	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:1389482G>A	uc003gdf.2	+	1	4143	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	395	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.607												
TACC3	10460	broad.mit.edu	37	4	1725278	1725278	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:1725278G>T	uc003gdo.2	+	2	238	c.130G>T	c.(130-132)GTG>TTG	p.V44L	TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Missense_Mutation_p.V44L|TACC3_uc003gdp.2_Missense_Mutation_p.V44L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	44						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)			GAAAGAAAATGTGCCACCCAA	0.483												
MAN2B2	23324	broad.mit.edu	37	4	6611524	6611524	+	Splice_Site	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:6611524G>T	uc003gjf.1	+	13	2043	c.2007_splice	c.e13-1	p.R669_splice	MAN2B2_uc003gje.1_Splice_Site_p.R669_splice|MAN2B2_uc011bwf.1_Splice_Site_p.R618_splice	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2						mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TTCTCCTCCAGGAACATGACA	0.577												
MAN2B2	23324	broad.mit.edu	37	4	6612993	6612993	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:6612993G>A	uc003gjf.1	+	15	2587	c.2551G>A	c.(2551-2553)GGA>AGA	p.G851R	MAN2B2_uc003gje.1_Missense_Mutation_p.G851R|MAN2B2_uc011bwf.1_Missense_Mutation_p.G800R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	851					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GGTGCTGTTCGGAGACCTCGC	0.657												
BOD1L	259282	broad.mit.edu	37	4	13604480	13604480	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:13604480T>C	uc003gmz.1	-	10	4161	c.4044A>G	c.(4042-4044)GAA>GAG	p.E1348E	BOD1L_uc010idr.1_Silent_p.E685E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1348							DNA binding			ovary(5)|breast(1)	6						CTGTGAAACCTTCACCACCTT	0.468												
CPEB2	132864	broad.mit.edu	37	4	15055785	15055785	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:15055785C>A	uc003gni.1	+	7	1157	c.1070C>A	c.(1069-1071)CCT>CAT	p.P357H	CPEB2_uc003gnj.1_Missense_Mutation_p.P327H|CPEB2_uc003gnk.1_Missense_Mutation_p.P365H|CPEB2_uc003gnl.1_Missense_Mutation_p.P338H|CPEB2_uc003gnm.1_Missense_Mutation_p.P335H|CPEB2_uc003gnn.1_Missense_Mutation_p.P330H	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	357	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGATTTGGGCCTTTGGTAGTA	0.328												
LDB2	9079	broad.mit.edu	37	4	16597436	16597436	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:16597436G>A	uc003goz.2	-	3	614	c.298C>T	c.(298-300)CTG>TTG	p.L100L	LDB2_uc003gpa.2_Silent_p.L100L|LDB2_uc003gpb.2_Silent_p.L100L|LDB2_uc011bxh.1_Silent_p.L100L|LDB2_uc010iee.2_Silent_p.L100L|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	100							LIM domain binding|transcription cofactor activity				0						ATGTAATACAGGTCGGTCACC	0.498												
SLC34A2	10568	broad.mit.edu	37	4	25676133	25676133	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:25676133G>A	uc003grr.2	+	12	1421	c.1340G>A	c.(1339-1341)GGC>GAC	p.G447D	SLC34A2_uc003grs.2_Missense_Mutation_p.G446D|SLC34A2_uc010iev.2_Missense_Mutation_p.G446D	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	447	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CCAGGAATCGGCGTGATAACC	0.572												
PTTG2	10744	broad.mit.edu	37	4	37962340	37962340	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:37962340G>T	uc011bye.1	+	1	285	c.285G>T	c.(283-285)GAG>GAT	p.E95D	TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	95					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0						AGATGACCGAGAAGACTGTTA	0.403												
GABRA4	2557	broad.mit.edu	37	4	46930594	46930594	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:46930594C>T	uc003gxg.2	-	9	1452	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	438	Cytoplasmic (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			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCATTTGCACGGCTGAATGG	0.463												
ATP10D	57205	broad.mit.edu	37	4	47525066	47525066	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:47525066G>A	uc003gxk.1	+	4	687	c.523G>A	c.(523-525)GTT>ATT	p.V175I	ATP10D_uc003gxj.3_Missense_Mutation_p.V175I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	175	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTGGAAAGACGTTACTGTTGG	0.353												
ENAM	10117	broad.mit.edu	37	4	71508334	71508334	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:71508334T>A	uc011caw.1	+	9	1472	c.1191T>A	c.(1189-1191)AAT>AAA	p.N397K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	397					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			ATGCAGGAAATCCAGCAAATC	0.473												
NPFFR2	10886	broad.mit.edu	37	4	72897782	72897782	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:72897782C>T	uc003hgg.2	+	1	262	c.164C>T	c.(163-165)GCG>GTG	p.A55V	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	55	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGCAGTCCGCGGGGGACAGA	0.677												
HNRPDL	9987	broad.mit.edu	37	4	83347273	83347273	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:83347273C>T	uc003hmr.2	-	7	1737	c.1202G>A	c.(1201-1203)AGC>AAC	p.S401N	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.S344N	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	401	Necessary for interaction with TNPO1.|Gly-rich.|Necessary for its nuclear import and export.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				GCCATAAGTGCTCTGTTGGCC	0.363												
HPSE	10855	broad.mit.edu	37	4	84230574	84230574	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:84230574G>A	uc003hoj.3	-	7	1064	c.965C>T	c.(964-966)TCT>TTT	p.S322F	HPSE_uc010ika.2_Missense_Mutation_p.S264F|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.S65F|HPSE_uc011cct.1_Missense_Mutation_p.S322F|HPSE_uc003hok.3_Missense_Mutation_p.S322F	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	322					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTTTTGCACAGATGAAATAAA	0.299												
ADH1A	124	broad.mit.edu	37	4	100205628	100205628	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:100205628C>T	uc003hur.1	-	5	566	c.495G>A	c.(493-495)TCG>TCA	p.S165S	uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.S165S|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCTCTAGAGGCGAGGCTGCAT	0.478												
TACR3	6870	broad.mit.edu	37	4	104640800	104640800	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:104640800T>C	uc003hxe.1	-	1	176	c.33A>G	c.(31-33)ATA>ATG	p.I11M		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	11	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CACCCCCGTCTATCCAGGTTT	0.677												
GSTCD	79807	broad.mit.edu	37	4	106638749	106638749	+	Splice_Site	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:106638749G>A	uc003hxz.3	+	2	52	c.-20_splice	c.e2-1		GSTCD_uc003hxx.2_Splice_Site|GSTCD_uc003hxy.3_Splice_Site|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Splice_Site	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain							cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTATACTTTAGGTGACCCAAT	0.313												
DKK2	27123	broad.mit.edu	37	4	107845346	107845346	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:107845346G>A	uc003hyi.2	-	4	1250	c.545C>T	c.(544-546)CCC>CTC	p.P182L	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	182					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCGTAGGCAGGGGTCTCCTTC	0.433												
LRIT3	345193	broad.mit.edu	37	4	110789030	110789030	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:110789030T>C	uc003hzx.3	+	2	881	c.688T>C	c.(688-690)TGT>CGT	p.C230R	LRIT3_uc003hzw.3_Missense_Mutation_p.C92R	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	230	Ig-like.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTACTGCGGTGTGATGCCAC	0.478												
ALPK1	80216	broad.mit.edu	37	4	113333128	113333128	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:113333128C>T	uc003iap.3	+	5	701	c.422C>T	c.(421-423)ACG>ATG	p.T141M	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Missense_Mutation_p.T141M|ALPK1_uc011cfx.1_Missense_Mutation_p.T63M|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Missense_Mutation_p.T85M|ALPK1_uc010imo.2_Translation_Start_Site|ALPK1_uc003iar.2_Missense_Mutation_p.T111M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	141							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCCAGCCACGCCAATTGCC	0.597												
C4orf21	55345	broad.mit.edu	37	4	113462384	113462384	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:113462384T>C	uc003iau.2	-	25	5850	c.5639A>G	c.(5638-5640)CAT>CGT	p.H1880R	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.H338R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	702						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GATTGCAGGATGACAACGGTA	0.358												
ANK2	287	broad.mit.edu	37	4	114290805	114290805	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:114290805C>T	uc003ibe.3	+	43	11554	c.11454C>T	c.(11452-11454)AGC>AGT	p.S3818S	ANK2_uc003ibd.3_Silent_p.S1724S|ANK2_uc003ibf.3_Silent_p.S1733S|ANK2_uc011cgc.1_Silent_p.S909S|ANK2_uc003ibg.3_Silent_p.S717S|ANK2_uc003ibh.3_Silent_p.S407S|ANK2_uc011cgd.1_Silent_p.S1120S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3785					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAACATCCAGCGAGCGGGGAG	0.567												
SEC24D	9871	broad.mit.edu	37	4	119665262	119665262	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:119665262C>T	uc003ici.3	-	15	2148	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.V627M|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	626					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	zinc ion binding				0						CCGTGAGCCACGCAGTCCTTG	0.448												
TRPC3	7222	broad.mit.edu	37	4	122833134	122833134	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:122833134T>G	uc003ieg.2	-	5	1530	c.1456A>C	c.(1456-1458)ACG>CCG	p.T486P	TRPC3_uc010inr.2_Missense_Mutation_p.T358P|TRPC3_uc003ief.2_Missense_Mutation_p.T413P|TRPC3_uc011cgl.1_Missense_Mutation_p.T150P	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	401	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TTGGGCAGCGTGGTGATGCCT	0.458												
KIAA1109	84162	broad.mit.edu	37	4	123156162	123156162	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123156162T>C	uc003ieh.2	+	25	3603	c.3558T>C	c.(3556-3558)ATT>ATC	p.I1186I	KIAA1109_uc003iei.1_Silent_p.I939I|KIAA1109_uc010ins.1_Silent_p.I529I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1186					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTAAAGAAATTCCCAAAATTA	0.358												
KIAA1109	84162	broad.mit.edu	37	4	123176338	123176338	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123176338T>C	uc003ieh.2	+	38	6323	c.6278T>C	c.(6277-6279)GTT>GCT	p.V2093A	KIAA1109_uc003iel.1_Missense_Mutation_p.V28A|KIAA1109_uc003iek.2_Missense_Mutation_p.V712A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2093					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTACAAAAGTTGCTCGCTTT	0.338												
FAT4	79633	broad.mit.edu	37	4	126372586	126372586	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:126372586C>T	uc003ifj.3	+	9	10415	c.10415C>T	c.(10414-10416)ACC>ATC	p.T3472I	FAT4_uc011cgp.1_Missense_Mutation_p.T1770I|FAT4_uc003ifi.1_Missense_Mutation_p.T950I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3472	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GATCGAGAAACCCTTCCCATC	0.428												
RNF150	57484	broad.mit.edu	37	4	141832415	141832415	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:141832415T>G	uc003iio.1	-	6	1735	c.1081A>C	c.(1081-1083)ACA>CCA	p.T361P	RNF150_uc010iok.1_Missense_Mutation_p.T319P|RNF150_uc003iip.1_Missense_Mutation_p.T361P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	361	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					TCATTCACTGTTGTGTCGCTG	0.592												
SMAD1	4086	broad.mit.edu	37	4	146474973	146474973	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:146474973C>T	uc003ikc.2	+	6	1451	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	SMAD1_uc003ikd.2_Silent_p.A345A|SMAD1_uc010iov.2_Silent_p.A345A|SMAD1_uc011cic.1_Silent_p.A306A	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	345	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					AGGTGTATGCCGAATGCCTTA	0.408												
TLR2	7097	broad.mit.edu	37	4	154624401	154624401	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:154624401T>C	uc003inq.2	+	3	561	c.342T>C	c.(340-342)AAT>AAC	p.N114N	TLR2_uc003inr.2_Silent_p.N114N|TLR2_uc003ins.2_Silent_p.N114N	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	114	LRR 3.|Extracellular (Potential).			N->S: Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain.	cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta 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 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|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ACTTATCTAATTTATCGTCTT	0.363												
LRAT	9227	broad.mit.edu	37	4	155665738	155665738	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:155665738G>A	uc003iom.1	+	1	587	c.260G>A	c.(259-261)CGC>CAC	p.R87H	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87H	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	87	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACATGGGGCGCACGCAGAAG	0.597												
FNIP2	57600	broad.mit.edu	37	4	159790317	159790317	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:159790317G>T	uc003iqe.3	+	13	2712	c.2529G>T	c.(2527-2529)AAG>AAT	p.K843N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	843	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGTATGTGAAGGCTGCGGAAG	0.647												
SC4MOL	6307	broad.mit.edu	37	4	166259034	166259034	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:166259034T>C	uc003ire.2	+	3	479	c.349T>C	c.(349-351)TAT>CAT	p.Y117H	SC4MOL_uc010irb.2_Missense_Mutation_p.Y117H|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	117	Helical; (Potential).				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	TTGTGGAACCTATTATTTTAC	0.358												
TLL1	7092	broad.mit.edu	37	4	167020518	167020518	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:167020518G>A	uc003irh.1	+	20	3393	c.2746G>A	c.(2746-2748)GAC>AAC	p.D916N	TLL1_uc011cjn.1_Missense_Mutation_p.D939N|TLL1_uc011cjo.1_Missense_Mutation_p.D740N	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	916	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGGTTGACTGTGAATG	0.458												
MFAP3L	9848	broad.mit.edu	37	4	170912709	170912709	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:170912709C>T	uc003isp.3	-	3	1228	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	MFAP3L_uc003isn.3_Silent_p.A247A	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	350	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GGGAATGTTCCGCCGACAGTT	0.502												
KIAA1712	80817	broad.mit.edu	37	4	175225417	175225417	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:175225417A>C	uc003itr.2	+	6	818	c.404A>C	c.(403-405)AAG>ACG	p.K135T	KIAA1712_uc010iro.2_Missense_Mutation_p.K135T|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	135						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAACAAAGAAAGAAAATCAGT	0.323												
WDR17	116966	broad.mit.edu	37	4	177017731	177017731	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:177017731C>G	uc003iuj.2	+	2	217	c.61C>G	c.(61-63)CAA>GAA	p.Q21E	WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	21										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGAAGGACTACAAAGAGTAAG	0.338												
ODZ3	55714	broad.mit.edu	37	4	183609430	183609430	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:183609430G>T	uc003ivd.1	+	11	2184	c.2147G>T	c.(2146-2148)TGT>TTT	p.C716F	ODZ3_uc003ive.1_Missense_Mutation_p.C122F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	716	Extracellular (Potential).|EGF-like 7.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACCCCCGCTGTGCCGAGCAC	0.612												
ODZ3	55714	broad.mit.edu	37	4	183664511	183664511	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:183664511G>A	uc003ivd.1	+	18	3605	c.3568G>A	c.(3568-3570)GAT>AAT	p.D1190N	ODZ3_uc003ive.1_Missense_Mutation_p.D596N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1190	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTACGTAGGCGATTTCAACTA	0.468												
WWC2	80014	broad.mit.edu	37	4	184175055	184175055	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:184175055A>G	uc010irx.2	+	9	1281	c.1099A>G	c.(1099-1101)ACC>GCC	p.T367A	WWC2_uc003ivk.3_Missense_Mutation_p.T162A|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.T49A	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	367	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAAACGTACCCAAGATGA	0.483												
C4orf41	60684	broad.mit.edu	37	4	184622874	184622874	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:184622874C>T	uc003ivx.2	+	26	3052	c.2876C>T	c.(2875-2877)GCT>GTT	p.A959V	C4orf41_uc003ivw.2_Missense_Mutation_p.A959V|C4orf41_uc010isc.2_Missense_Mutation_p.A303V|C4orf41_uc003ivy.2_Missense_Mutation_p.A565V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	959											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)		GGAGAGAGTGCTAGTGAATGC	0.373												
IRF2	3660	broad.mit.edu	37	4	185339701	185339701	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:185339701G>A	uc003iwf.3	-	4	549	c.349C>T	c.(349-351)CGG>TGG	p.R117W		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	117					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)		TTAGAAGGCCGTTCTGATAGG	0.403												
CCDC110	256309	broad.mit.edu	37	4	186381154	186381154	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:186381154T>C	uc003ixu.3	-	6	663	c.587A>G	c.(586-588)AAT>AGT	p.N196S	CCDC110_uc003ixv.3_Missense_Mutation_p.N159S|CCDC110_uc011ckt.1_Missense_Mutation_p.N196S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	196						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)		GTTATTATAATTCTTCAAGAT	0.333												
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:188924074C>T	uc003izg.1	+	3	358	c.113C>T	c.(112-114)GCG>GTG	p.A38V	ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572												
PLEKHG4B	153478	broad.mit.edu	37	5	156192	156192	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:156192G>A	uc003jak.2	+	8	1197	c.1147G>A	c.(1147-1149)GCC>ACC	p.A383T		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	383					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)		GCAGGAAGTCGCCGAGTTAAT	0.572												
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:10258614C>T	uc003jeq.2	+	6	1011	c.840C>T	c.(838-840)TAC>TAT	p.Y280Y	CCT5_uc011cmq.1_Silent_p.Y127Y|CCT5_uc003jer.2_Silent_p.Y280Y|CCT5_uc010its.2_Silent_p.Y280Y|CCT5_uc011cmr.1_Silent_p.Y225Y|CCT5_uc011cms.1_Silent_p.Y242Y|CCT5_uc011cmt.1_Silent_p.Y187Y	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						TTCAGAAATACGAAAAGGAGA	0.383												
ZNF622	90441	broad.mit.edu	37	5	16463215	16463215	+	Splice_Site	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:16463215A>G	uc003jfq.2	-	3	1169	c.1049_splice	c.e3+1	p.R350_splice		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622							cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						AACTATGCTTACCTAAAATCA	0.284												
PDZD2	23037	broad.mit.edu	37	5	32090692	32090692	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:32090692G>T	uc003jhl.2	+	20	7526	c.7138G>T	c.(7138-7140)GGG>TGG	p.G2380W	PDZD2_uc003jhm.2_Missense_Mutation_p.G2380W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2380					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CATTGTTTCCGGGAGCCTGGG	0.617												
NPR3	4883	broad.mit.edu	37	5	32712358	32712358	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:32712358C>T	uc003jhv.2	+	1	694	c.476C>T	c.(475-477)GCG>GTG	p.A159V	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.A159V	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	159	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	TCGGCTGGGGCGCTGGCCGCT	0.667												
NUP155	9631	broad.mit.edu	37	5	37364349	37364349	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:37364349G>A	uc003jku.1	-	2	413	c.295C>T	c.(295-297)CAT>TAT	p.H99Y	NUP155_uc003jkt.1_Missense_Mutation_p.H40Y|NUP155_uc010iuz.1_Missense_Mutation_p.H99Y	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	99					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAGGATACGTCCAAACTGC	0.343												
EGFLAM	133584	broad.mit.edu	37	5	38438416	38438416	+	Missense_Mutation	SNP	T	T	C	rs143262017		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:38438416T>C	uc003jlc.1	+	17	2647	c.2323T>C	c.(2323-2325)TTC>CTC	p.F775L	EGFLAM_uc003jlb.1_Missense_Mutation_p.F775L|EGFLAM_uc003jle.1_Missense_Mutation_p.F541L|EGFLAM_uc003jlf.1_Missense_Mutation_p.F141L	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	775	Laminin G-like 2.			F -> L (in Ref. 2; CAH56137).		cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GAAGCATGACTTCACCTCCGG	0.498												
C6	729	broad.mit.edu	37	5	41149516	41149516	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:41149516T>G	uc003jmk.2	-	17	2660	c.2450A>C	c.(2449-2451)AAG>ACG	p.K817T	C6_uc003jml.1_Missense_Mutation_p.K817T	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	817	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K817R(1)		ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAAAAACTTACAAGCGGG	0.423												
PELO	53918	broad.mit.edu	37	5	52097317	52097317	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:52097317A>G	uc003jos.2	+	3	1786	c.801A>G	c.(799-801)TCA>TCG	p.S267S	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	267					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GCCGCCTTTCAGACACTAAAG	0.478												
ITGA2	3673	broad.mit.edu	37	5	52366056	52366056	+	Missense_Mutation	SNP	C	C	T	rs148414859		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:52366056C>T	uc003joy.2	+	17	2344	c.2201C>T	c.(2200-2202)GCA>GTA	p.A734V	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.A658V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	734	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAAATCAAGCACAGAGTTGC	0.408												
PDE4D	5144	broad.mit.edu	37	5	58270635	58270635	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:58270635G>A	uc003jsa.2	-	15	2458	c.2286C>T	c.(2284-2286)TGC>TGT	p.C762C	PDE4D_uc003jrx.2_Silent_p.C626C|PDE4D_uc003jry.2_Silent_p.C460C|PDE4D_uc003jrz.2_Silent_p.C698C|PDE4D_uc003jsb.2_Silent_p.C701C|PDE4D_uc003jrt.2_Silent_p.C460C|PDE4D_uc003jru.2_Silent_p.C538C|PDE4D_uc003jrv.2_Silent_p.C632C|PDE4D_uc003jrw.2_Silent_p.C640C|PDE4D_uc003jrs.2_Silent_p.C471C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	762					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TGGAGTCACTGCAGCTAGTGT	0.458												
DEPDC1B	55789	broad.mit.edu	37	5	59943279	59943279	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:59943279A>G	uc003jsh.2	-	3	469	c.396T>C	c.(394-396)AAT>AAC	p.N132N	DEPDC1B_uc011cqm.1_Silent_p.N132N|DEPDC1B_uc011cqn.1_Silent_p.N105N	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	132					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTGGGAGATCATTCCATTCTG	0.453												
IPO11	51194	broad.mit.edu	37	5	61789842	61789842	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:61789842G>A	uc003jtc.2	+	16	1671	c.1481G>A	c.(1480-1482)CGC>CAC	p.R494H	IPO11_uc011cqr.1_Missense_Mutation_p.R534H|IPO11_uc003jtb.1_Missense_Mutation_p.R494H	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	494	HEAT 5.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCATTGCGACGCAGGGTGATT	0.323												
HTR1A	3350	broad.mit.edu	37	5	63256782	63256782	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:63256782A>G	uc011cqt.1	-	1	765	c.765T>C	c.(763-765)AAT>AAC	p.N255N		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	255	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCGACTCTCCATTCACACTCT	0.657												
RNF180	285671	broad.mit.edu	37	5	63510254	63510254	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:63510254C>T	uc003jti.2	+	4	1211	c.1101C>T	c.(1099-1101)AGC>AGT	p.S367S	RNF180_uc003jth.3_Silent_p.S367S|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	367	Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CATTGGGCAGCATTAATCAGA	0.488												
PPWD1	23398	broad.mit.edu	37	5	64881883	64881883	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:64881883T>C	uc003jtv.3	+	10	1679	c.1672T>C	c.(1672-1674)TGG>CGG	p.W558R	PPWD1_uc011cqv.1_Missense_Mutation_p.W528R|PPWD1_uc011cqw.1_Missense_Mutation_p.W402R	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	558	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGAAAGCATATGGGGAGGAGA	0.413												
C5orf44	80006	broad.mit.edu	37	5	64931134	64931134	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:64931134G>T	uc003jtz.3	+	2	383	c.53G>T	c.(52-54)CGG>CTG	p.R18L	C5orf44_uc003jua.3_Missense_Mutation_p.R18L|C5orf44_uc003juc.3_Missense_Mutation_p.R18L|C5orf44_uc010iwv.2_Missense_Mutation_p.R18L	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	18										ovary(1)	1						ACAGTGATGCGGCTGACTAAG	0.358												
POLK	51426	broad.mit.edu	37	5	74892828	74892828	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:74892828A>G	uc003kdw.2	+	13	2406	c.2310A>G	c.(2308-2310)GAA>GAG	p.E770E	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E572E|POLK_uc003kec.2_Silent_p.E680E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E680E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	770					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ACTTATGTGAAGTGAAAACAG	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
AP3B1	8546	broad.mit.edu	37	5	77471506	77471506	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:77471506A>G	uc003kfj.2	-	11	1236	c.1111T>C	c.(1111-1113)TAT>CAT	p.Y371H		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	371					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)		CTCTTCAGATAAGGTTCAAAC	0.318									Hermansky-Pudlak_syndrome			
BHMT2	23743	broad.mit.edu	37	5	78375234	78375234	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:78375234T>C	uc003kft.2	+	3	232	c.209T>C	c.(208-210)GTC>GCC	p.V70A	BHMT2_uc011cth.1_Missense_Mutation_p.V70A	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	70	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGATCAAATGTCATGCAGACT	0.373												
THBS4	7060	broad.mit.edu	37	5	79378294	79378294	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:79378294G>A	uc003kgh.2	+	22	3073	c.2750G>A	c.(2749-2751)CGT>CAT	p.R917H	uc003kgi.3_RNA	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	917	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCACAATGCGTGGAGGCCGA	0.512												
VCAN	1462	broad.mit.edu	37	5	82835480	82835480	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:82835480C>T	uc003kii.3	+	8	7014	c.6658C>T	c.(6658-6660)CAT>TAT	p.H2220Y	VCAN_uc003kij.3_Missense_Mutation_p.H1233Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H884Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2220	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)		ACCAGCTGAACATGTAGTCAC	0.373												
VCAN	1462	broad.mit.edu	37	5	82876243	82876243	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:82876243C>T	uc003kii.3	+	15	10537	c.10181C>T	c.(10180-10182)TCG>TTG	p.S3394L	VCAN_uc003kij.3_Missense_Mutation_p.S2407L|VCAN_uc010jau.2_Missense_Mutation_p.S1640L|VCAN_uc003kik.3_Missense_Mutation_p.S653L|VCAN_uc003kil.3_Missense_Mutation_p.S2058L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3394					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)		TGGCAGGAGTCGAGGCGCTGA	0.408												
NR2F1	7025	broad.mit.edu	37	5	92923860	92923860	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:92923860C>G	uc003kkj.2	+	2	2388	c.701C>G	c.(700-702)GCC>GGC	p.A234G		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	234					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTCGAGTGGGCCCGCAACATC	0.642												
TTC37	9652	broad.mit.edu	37	5	94863727	94863727	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:94863727G>A	uc003klb.2	-	13	1394	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	TTC37_uc010jbf.1_Missense_Mutation_p.T327M	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	375							binding			ovary(3)|pancreas(1)	4						CTGATCAAGCGTACGAATTGC	0.373												
SLCO6A1	133482	broad.mit.edu	37	5	101834249	101834249	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:101834249C>T	uc003knn.2	-	1	472	c.300G>A	c.(298-300)GAG>GAA	p.E100E	SLCO6A1_uc003kno.2_Silent_p.E100E|SLCO6A1_uc003knp.2_Silent_p.E100E|SLCO6A1_uc003knq.2_Silent_p.E100E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	100	Cytoplasmic (Potential).|Cys-rich.					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATTGCAACACTCACAGCAGG	0.517												
TSLP	85480	broad.mit.edu	37	5	110407479	110407479	+	Translation_Start_Site	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:110407479G>T	uc003kpb.2	+	1	90	c.-109G>T	c.(-111--107)GAGGC>GATGC		TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1							extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCAATGAGAGGCAAAACCTG	0.512												
CAMK4	814	broad.mit.edu	37	5	110819980	110819980	+	Missense_Mutation	SNP	C	C	T	rs147516085	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:110819980C>T	uc011cvj.1	+	12	1337	c.1238C>T	c.(1237-1239)GCC>GTC	p.A413V	CAMK4_uc003kpf.2_Missense_Mutation_p.A413V|CAMK4_uc010jbv.2_Missense_Mutation_p.A216V|CAMK4_uc003kpg.2_Missense_Mutation_p.A104V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	413					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTGAAGAGGCCCCCAAAATG	0.552												
DCP2	167227	broad.mit.edu	37	5	112349031	112349031	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:112349031C>T	uc003kqh.2	+	11	1311	c.1113C>T	c.(1111-1113)GAC>GAT	p.D371D	DCP2_uc011cwa.1_Silent_p.D160D|DCP2_uc010jcc.2_Silent_p.D242D	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	371					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)		CTGTATATGACTTGCCTAGCT	0.393												
MCC	4163	broad.mit.edu	37	5	112676242	112676242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:112676242C>A	uc003kql.3	-	3	1017	c.601G>T	c.(601-603)GGA>TGA	p.G201*	MCC_uc003kqk.3_RNA	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	Error:Variant_position_missing_in_P23508_after_alignment					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATAGCTTCCTCCTACAGAG	0.468												
PGGT1B	5229	broad.mit.edu	37	5	114577261	114577261	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:114577261A>G	uc003kqw.3	-	3	323	c.302T>C	c.(301-303)CTG>CCG	p.L101P	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.L101P	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	101					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)	CGGAATACCCAGGTATGAAGA	0.343												
FEM1C	56929	broad.mit.edu	37	5	114860032	114860032	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:114860032T>C	uc003krb.1	-	3	2389	c.1827A>G	c.(1825-1827)CTA>CTG	p.L609L		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	609						cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CAAAAGTCTCTAGCTTTTCTG	0.353												
AQPEP	206338	broad.mit.edu	37	5	115358121	115358121	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:115358121T>C	uc003kro.2	+	19	2954	c.2790T>C	c.(2788-2790)TAT>TAC	p.Y930Y	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	930	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						ATCTAATATATACAATAGGGA	0.284												
TNFAIP8	25816	broad.mit.edu	37	5	118728727	118728727	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:118728727C>T	uc003ksh.2	+	3	936	c.248C>T	c.(247-249)GCC>GTC	p.A83V	TNFAIP8_uc003ksf.1_Missense_Mutation_p.P61S|TNFAIP8_uc003ksg.2_Missense_Mutation_p.A73V|TNFAIP8_uc011cwf.1_Missense_Mutation_p.A77V|TNFAIP8_uc003ksi.2_Missense_Mutation_p.A83V	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	83	Potential.				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ATCAAGCTGGCCATTCTTTAT	0.423												
SNX2	6643	broad.mit.edu	37	5	122139221	122139221	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:122139221G>A	uc003kte.2	+	6	605	c.556G>A	c.(556-558)GAC>AAC	p.D186N	SNX2_uc011cwn.1_Missense_Mutation_p.D69N	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	186	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		AAGATTCAGCGACTTTCTTGG	0.353												
LMNB1	4001	broad.mit.edu	37	5	126156790	126156790	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:126156790A>G	uc003kud.1	+	7	1717	c.1349A>G	c.(1348-1350)GAT>GGT	p.D450G	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.D240G	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	450	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ATTGATGTTGATGGGAAATTT	0.403												
PRRC1	133619	broad.mit.edu	37	5	126860552	126860552	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:126860552C>G	uc003kuk.2	+	3	613	c.433C>G	c.(433-435)CAT>GAT	p.H145D	PRRC1_uc003kuj.3_Missense_Mutation_p.H145D	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	145						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TACAAGGGGACATGCTGGGAG	0.448												
SLC12A2	6558	broad.mit.edu	37	5	127483327	127483327	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:127483327T>C	uc003kus.2	+	11	1951	c.1787T>C	c.(1786-1788)GTG>GCG	p.V596A	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.V596A	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	596	Helical; (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAGTATGGTGTCAGGATTT	0.338												
P4HA2	8974	broad.mit.edu	37	5	131543466	131543466	+	Missense_Mutation	SNP	C	C	T	rs148040234		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:131543466C>T	uc003kwh.2	-	8	1579	c.1015G>A	c.(1015-1017)GTC>ATC	p.V339I	P4HA2_uc003kwg.2_Missense_Mutation_p.V339I|P4HA2_uc003kwi.2_Missense_Mutation_p.V339I|P4HA2_uc003kwk.2_Missense_Mutation_p.V339I|P4HA2_uc003kwl.2_Missense_Mutation_p.V339I|P4HA2_uc003kwj.2_Missense_Mutation_p.V339I	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	339						endoplasmic reticulum lumen	electron carrier activity|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 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGTACCTGACGATGTGCGGG	0.527												
C5orf15	56951	broad.mit.edu	37	5	133292616	133292616	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:133292616A>G	uc003kyo.2	-	3	863	c.732T>C	c.(730-732)CAT>CAC	p.H244H		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	244	Cytoplasmic (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GATCTAGGCGATGGTATTCCA	0.343												
PHF15	23338	broad.mit.edu	37	5	133914618	133914618	+	Missense_Mutation	SNP	G	G	A	rs150023113		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:133914618G>A	uc003kzo.1	+	11	2163	c.1984G>A	c.(1984-1986)GGG>AGG	p.G662R	PHF15_uc011cxt.1_Missense_Mutation_p.G706R|PHF15_uc003kzk.2_Missense_Mutation_p.G722R|PHF15_uc003kzm.2_Missense_Mutation_p.G663R|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	662	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTGCAGCCGGGGACTGTCC	0.657												
DDX46	9879	broad.mit.edu	37	5	134109426	134109426	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:134109426G>A	uc003kzw.2	+	5	656	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	163	Potential.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGAAAGCGAAAAGAAAGA	0.353												
TRPC7	57113	broad.mit.edu	37	5	135583370	135583370	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:135583370C>T	uc003lbn.1	-	6	1633	c.1630G>A	c.(1630-1632)GCG>ACG	p.A544T	TRPC7_uc010jef.1_Missense_Mutation_p.A481T|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A475T|TRPC7_uc010jei.1_Missense_Mutation_p.A420T|TRPC7_uc010jej.1_Missense_Mutation_p.A96T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	545	Helical; (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGGCTATCGCGTAGAGCCCT	0.522												
SPOCK1	6695	broad.mit.edu	37	5	136602745	136602745	+	Splice_Site	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:136602745C>A	uc003lbo.2	-	2	378	c.187_splice	c.e2-1	p.D63_splice	SPOCK1_uc003lbp.2_Splice_Site_p.D63_splice	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATAATCATCCTATATAAGGA	0.368												
CTNNA1	1495	broad.mit.edu	37	5	138253547	138253547	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:138253547C>T	uc003ldh.2	+	11	1601	c.1506C>T	c.(1504-1506)GTC>GTT	p.V502V	CTNNA1_uc011cyx.1_Silent_p.V399V|CTNNA1_uc011cyy.1_Silent_p.V379V|CTNNA1_uc003ldi.2_Silent_p.V200V|CTNNA1_uc003ldj.2_Silent_p.V502V|CTNNA1_uc003ldl.2_Silent_p.V132V	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	502					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGATGCTGTCGATGACATTA	0.408												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139909134	139909134	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:139909134A>G	uc003lfs.1	+	29	6727	c.6603A>G	c.(6601-6603)CCA>CCG	p.P2201P	ANKHD1_uc003lfr.2_Silent_p.P2201P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P940P|ANKHD1_uc003lfw.2_Silent_p.P839P|ANKHD1_uc010jfl.2_Silent_p.P636P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P338P	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2201						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTTGCCACCTACATTTG	0.493												
HARS2	23438	broad.mit.edu	37	5	140076918	140076918	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140076918G>A	uc003lgx.2	+	10	1340	c.1124G>A	c.(1123-1125)GGC>GAC	p.G375D	HARS2_uc011czr.1_Missense_Mutation_p.G350D|HARS2_uc011czs.1_Missense_Mutation_p.G231D|HARS2_uc011czt.1_Missense_Mutation_p.G203D|HARS2_uc011czu.1_Missense_Mutation_p.G201D	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	375					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAAGGGCCACAAGGTG	0.587												
PCDHA1	56147	broad.mit.edu	37	5	140166090	140166090	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140166090G>A	uc003lhb.2	+	1	215	c.215G>A	c.(214-216)AGG>AAG	p.R72K	PCDHA1_uc003lha.2_Missense_Mutation_p.R72K|PCDHA1_uc003lgz.2_Missense_Mutation_p.R72K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACACACAGGGACCTTCTG	0.597												
PCDHA2	56146	broad.mit.edu	37	5	140174888	140174888	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140174888G>A	uc003lhd.2	+	1	445	c.339G>A	c.(337-339)CCG>CCA	p.P113P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.P113P|PCDHA2_uc011czy.1_Silent_p.P113P	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	113	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGGCCGCTGCAGGTTT	0.527												
PCDHA8	56140	broad.mit.edu	37	5	140222556	140222556	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140222556G>A	uc003lhs.2	+	1	1650	c.1650G>A	c.(1648-1650)ACG>ACA	p.T550T	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_uc003lhr.1_Silent_p.T550T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	550	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.692												
PCDHA11	56138	broad.mit.edu	37	5	140250228	140250228	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140250228G>A	uc003lia.2	+	1	2398	c.1540G>A	c.(1540-1542)GGC>AGC	p.G514S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G514S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	514	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGCAAGGTGTA	0.697												
PCDHA13	56136	broad.mit.edu	37	5	140263678	140263678	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140263678T>C	uc003lif.2	+	1	1825	c.1825T>C	c.(1825-1827)TAT>CAT	p.Y609H	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.Y609H|PCDHA13_uc003lid.2_Missense_Mutation_p.Y609H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	609	Cadherin 6.|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)			GTGGCTTTCGTATGAATTGCA	0.682												
PCDHAC1	56135	broad.mit.edu	37	5	140307318	140307318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140307318C>T	uc003lih.2	+	1	1017	c.841C>T	c.(841-843)CGA>TGA	p.R281*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Nonsense_Mutation_p.R281*	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	281	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGCTGCGACACCGCTT	0.542												
PCDHB2	56133	broad.mit.edu	37	5	140474700	140474700	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140474700A>C	uc003lil.2	+	1	464	c.326A>C	c.(325-327)CAG>CCG	p.Q109P	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	109	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCTTTCCAGGTGTTACTA	0.473												
PCDHB3	56132	broad.mit.edu	37	5	140481206	140481206	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140481206G>A	uc003lio.2	+	1	973	c.973G>A	c.(973-975)GGA>AGA	p.G325R	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	325	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGATGGCGGAGGCCTATC	0.438												
PCDHB3	56132	broad.mit.edu	37	5	140482261	140482261	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140482261G>A	uc003lio.2	+	1	2028	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	676	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGAGGCGGCACCGGCCC	0.667												
PCDHB5	26167	broad.mit.edu	37	5	140516493	140516493	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140516493C>A	uc003liq.2	+	1	1694	c.1477C>A	c.(1477-1479)CAG>AAG	p.Q493K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	493	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCCGCCCCAGAACCCACA	0.657												
PCDHB6	56130	broad.mit.edu	37	5	140531173	140531173	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140531173C>T	uc003lir.2	+	1	1335	c.1335C>T	c.(1333-1335)AAC>AAT	p.N445N	PCDHB6_uc011dah.1_Silent_p.N309N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	445	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCCGCCT	0.577												
PCDHB7	56129	broad.mit.edu	37	5	140553418	140553418	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140553418G>T	uc003lit.2	+	1	1176	c.1002G>T	c.(1000-1002)GTG>GTT	p.V334V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	334	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACTGTAGTGGTTGATGTAA	0.448												
PCDHB8	56128	broad.mit.edu	37	5	140559148	140559148	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140559148C>T	uc011dai.1	+	1	1719	c.1533C>T	c.(1531-1533)AAC>AAT	p.N511N	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACAGACAACGGCCACCTGT	0.677												
PCDHB10	56126	broad.mit.edu	37	5	140573645	140573645	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140573645A>G	uc003lix.2	+	1	1694	c.1520A>G	c.(1519-1521)AAC>AGC	p.N507S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	507	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCATCAACGCGGACAAC	0.697												
PCDHB12	56124	broad.mit.edu	37	5	140588755	140588755	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140588755G>C	uc003liz.2	+	1	465	c.276G>C	c.(274-276)AGG>AGC	p.R92S	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	92	Extracellular (Potential).|Cadherin 1.				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)			TGCTAGACAGGGAGGAGCTCT	0.483												
PCDHB13	56123	broad.mit.edu	37	5	140595303	140595303	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140595303C>T	uc003lja.1	+	1	1795	c.1608C>T	c.(1606-1608)CAC>CAT	p.H536H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	536	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCAGACCACGGCTCCCCGG	0.677												
PCDHB13	56123	broad.mit.edu	37	5	140595729	140595729	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140595729G>A	uc003lja.1	+	1	2221	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGACCCAGGCCC	0.687												
SLC25A2	83884	broad.mit.edu	37	5	140682918	140682918	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140682918C>T	uc003ljf.2	-	1	695	c.515G>A	c.(514-516)GGA>GAA	p.G172E		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	172	Helical; Name=4; (Potential).|Solcar 2.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTCGAGAGTCCATGGTAGAA	0.433												
PCDHGA3	56112	broad.mit.edu	37	5	140724035	140724035	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140724035A>G	uc003ljm.1	+	1	435	c.435A>G	c.(433-435)CTA>CTG	p.L145L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.L145L	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	145	Extracellular (Potential).|Cadherin 2.				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)			TTGGTGAACTAACGGTTCCTG	0.343												
PCDHGA4	56111	broad.mit.edu	37	5	140737042	140737042	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140737042C>A	uc003ljq.1	+	1	2275	c.2275C>A	c.(2275-2277)CTC>ATC	p.L759I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L759I|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	759	Cytoplasmic (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)			CGAGGTCTCCCTCACCGCGGA	0.602												
PCDHGA5	56110	broad.mit.edu	37	5	140744549	140744549	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140744549G>A	uc003lju.1	+	1	652	c.652G>A	c.(652-654)GGA>AGA	p.G218R	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_uc011das.1_Missense_Mutation_p.G218R	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGATGGCGGAGACCCGGT	0.577												
PCDHGA5	56110	broad.mit.edu	37	5	140744934	140744934	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140744934A>G	uc003lju.1	+	1	1037	c.1037A>G	c.(1036-1038)GAA>GGA	p.E346G	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_uc011das.1_Missense_Mutation_p.E346G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	346	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCCCCGAAGTGATCCTC	0.507												
PCDHGA7	56108	broad.mit.edu	37	5	140762728	140762728	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140762728G>T	uc003lka.1	+	1	262	c.262G>T	c.(262-264)GGC>TGC	p.G88C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G88C	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	88	Cadherin 1.|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)			GGTCACTGCGGGCAGGATAGA	0.572												
PCDHGA8	9708	broad.mit.edu	37	5	140773440	140773440	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140773440A>G	uc003lkd.1	+	1	1958	c.1060A>G	c.(1060-1062)AGC>GGC	p.S354G	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_Missense_Mutation_p.S354G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	354	Cadherin 4.|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)			GTCTTTGTTTAGCCCAGTGTT	0.453												
PCDHGC3	5098	broad.mit.edu	37	5	140856480	140856480	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:140856480T>C	uc003lkv.1	+	1	912	c.797T>C	c.(796-798)GTC>GCC	p.V266A	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_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.V266A|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	266	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTACAAGTCCTTGCAACG	0.592												
HDAC3	8841	broad.mit.edu	37	5	141014386	141014386	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141014386G>A	uc003llf.2	-	3	339	c.273C>T	c.(271-273)GGC>GGT	p.G91G	HDAC3_uc003lle.1_Silent_p.G34G|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	91	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ACCAGTCATCGCCTACGTTGA	0.517												
FCHSD1	89848	broad.mit.edu	37	5	141026256	141026256	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141026256C>T	uc003llk.2	-	11	1009	c.958G>A	c.(958-960)GCT>ACT	p.A320T	FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	320									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTGCCAGCCACGCCTTCT	0.612												
PCDH1	5097	broad.mit.edu	37	5	141248141	141248141	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141248141A>T	uc003llq.2	-	2	1013	c.896T>A	c.(895-897)GTC>GAC	p.V299D	PCDH1_uc003llp.2_Missense_Mutation_p.V299D|PCDH1_uc011dbf.1_Missense_Mutation_p.V277D	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	299	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		CACCTGGATGACCGAGTGGCC	0.572												
KIAA0141	9812	broad.mit.edu	37	5	141314083	141314083	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141314083T>G	uc003lls.2	+	10	1203	c.1081T>G	c.(1081-1083)TTC>GTC	p.F361V	KIAA0141_uc003llt.2_Missense_Mutation_p.F361V|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	361	TPR 5.				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)			CGGGGTGCTTTTCACCAAGGA	0.527												
NDFIP1	80762	broad.mit.edu	37	5	141515313	141515313	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:141515313C>T	uc003lmi.3	+	4	517	c.301C>T	c.(301-303)CGG>TGG	p.R101W	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	101	Cytoplasmic (Potential).				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity				0		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTGGGTCGGGATGATTT	0.363												
SH3RF2	153769	broad.mit.edu	37	5	145317822	145317822	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:145317822G>A	uc003lnt.2	+	2	569	c.331G>A	c.(331-333)GCC>ACC	p.A111T	SH3RF2_uc011dbl.1_Missense_Mutation_p.A111T	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	111							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTCTGCAGGCCAGTCCTTT	0.547												
ADRB2	154	broad.mit.edu	37	5	148206413	148206413	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:148206413G>A	uc003lpr.1	+	1	258	c.19G>A	c.(19-21)GGC>AGC	p.G7S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	7	Extracellular.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ACCCGGGAACGGCAGCGCCTT	0.711												
TIGD6	81789	broad.mit.edu	37	5	149375542	149375542	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:149375542G>A	uc003lri.2	-	2	1132	c.370C>T	c.(370-372)CTG>TTG	p.L124L	TIGD6_uc003lrj.2_Silent_p.L124L	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	124	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AATCTGTTCAGCCAGCCCACA	0.403												
ARSI	340075	broad.mit.edu	37	5	149676950	149676950	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:149676950G>A	uc003lrv.2	-	2	2126	c.1537C>T	c.(1537-1539)CCT>TCT	p.P513S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	513						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAGTCAGGATGAGCCCGG	0.637												
CCDC69	26112	broad.mit.edu	37	5	150584990	150584990	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:150584990T>C	uc003ltq.2	-	2	218	c.95A>G	c.(94-96)CAT>CGT	p.H32R	CCDC69_uc010jhu.2_Intron|CCDC69_uc011dcq.1_RNA	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	32										ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTAATTCATGGGGCTCTGG	0.527												
FAT2	2196	broad.mit.edu	37	5	150917444	150917444	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:150917444C>T	uc003lue.3	-	11	9116	c.9103G>A	c.(9103-9105)GCC>ACC	p.A3035T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3035	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTCTGTGGCAGAAACCTTC	0.468												
KIF4B	285643	broad.mit.edu	37	5	154393781	154393781	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:154393781T>G	uc010jih.1	+	1	522	c.362T>G	c.(361-363)CTG>CGG	p.L121R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	121	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTAATACAACTGCTCTTCAAA	0.393												
LSM11	134353	broad.mit.edu	37	5	157181069	157181069	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:157181069C>T	uc003lxe.1	+	3	650	c.646C>T	c.(646-648)CGG>TGG	p.R216W	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	216					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCATATGAACGGGATTCTTC	0.463												
TTC1	7265	broad.mit.edu	37	5	159463806	159463806	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:159463806A>C	uc003lxu.2	+	4	550	c.500A>C	c.(499-501)AAA>ACA	p.K167T		NM_003314	NP_003305	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	167	TPR 2.				protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCAAGGATGAAACAGGTATGT	0.418												
CPEB4	80315	broad.mit.edu	37	5	173317434	173317434	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:173317434A>G	uc003mcs.3	+	1	2104	c.698A>G	c.(697-699)CAC>CGC	p.H233R	CPEB4_uc010jju.1_Missense_Mutation_p.H233R|CPEB4_uc010jjv.2_Missense_Mutation_p.H233R|CPEB4_uc011dfg.1_Missense_Mutation_p.H233R|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	233	His-rich.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCACAGCACCACCCACATCAC	0.537												
CDHR2	54825	broad.mit.edu	37	5	176012966	176012966	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:176012966A>G	uc003mem.1	+	20	2812	c.2746A>G	c.(2746-2748)ATT>GTT	p.I916V	CDHR2_uc003men.1_Missense_Mutation_p.I916V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	916	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						AAGCCTCCTCATTACCATTGA	0.403												
ZNF346	23567	broad.mit.edu	37	5	176477895	176477895	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:176477895C>T	uc003mfi.2	+	5	704	c.661C>T	c.(661-663)CGC>TGC	p.R221C	ZNF346_uc011dfr.1_Missense_Mutation_p.R189C|ZNF346_uc011dfs.1_Missense_Mutation_p.R123C|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.R246C|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	221						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAATGGCACGCTATGGGCG	0.567												
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:178555036G>A	uc003mjw.2	-	17	2541	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587												
TUBB2B	347733	broad.mit.edu	37	6	3224988	3224988	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:3224988C>T	uc003mvg.2	-	4	1526	c.1335G>A	c.(1333-1335)GCG>GCA	p.A445A	TUBB2B_uc010jnj.2_Silent_p.A408A|TUBB2B_uc010jnk.2_Silent_p.A373A|TUBB2B_uc003mvh.2_Silent_p.A418A|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	445					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GGGGCATCTACGCCTCGTCCT	0.627												
EDN1	1906	broad.mit.edu	37	6	12292633	12292633	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:12292633A>G	uc003nae.3	+	2	458	c.124A>G	c.(124-126)AGT>GGT	p.S42G	EDN1_uc010jpb.2_Missense_Mutation_p.S42G|EDN1_uc003nad.2_Missense_Mutation_p.S42G|EDN1_uc003naf.3_Missense_Mutation_p.S41G	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1 precursor	42					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			skin(1)	1	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACCCACTCCCAGTCCACCCTG	0.607												
NUP153	9972	broad.mit.edu	37	6	17632903	17632903	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:17632903T>C	uc003ncd.1	-	17	2837	c.2637A>G	c.(2635-2637)CCA>CCG	p.P879P	NUP153_uc011dje.1_Silent_p.P910P|NUP153_uc010jpl.1_Silent_p.P837P	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	879	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTTTGTGCCTGGCTTTGCAC	0.393												
SLC17A3	10786	broad.mit.edu	37	6	25850802	25850802	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:25850802G>T	uc003nfi.3	-	7	754	c.644C>A	c.(643-645)TCT>TAT	p.S215Y	SLC17A3_uc003nfk.3_Missense_Mutation_p.S293Y|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.S215Y	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	215					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AATGGGTAGAGATCTGAGCAT	0.423												
HIST1H2BI	8346	broad.mit.edu	37	6	26273222	26273222	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:26273222T>C	uc003nhk.2	+	1	19	c.19T>C	c.(19-21)TCA>CCA	p.S7P	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						ACCAGCTAAGTCAGCTCCCGC	0.547												
HIST1H2AJ	8331	broad.mit.edu	37	6	27782514	27782514	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:27782514G>A	uc003njn.1	-	1	5	c.5C>T	c.(4-6)TCT>TTT	p.S2F	HIST1H2BM_uc003njo.2_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	2				S->A: Blocks the inhibition of transcription by RPS6KA5/MSK1.	nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACCACGCCCAGACATGGCAAA	0.532												
TRIM27	5987	broad.mit.edu	37	6	28876773	28876773	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:28876773G>A	uc003nlr.2	-	5	1222	c.863C>T	c.(862-864)ACG>ATG	p.T288M	TRIM27_uc003nls.2_Missense_Mutation_p.T288M|TRIM27_uc003nlt.1_Missense_Mutation_p.T288M	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	288	Potential.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						TAGACTCTCCGTCAAGAATAG	0.403			T	RET	papillary thyroid							
OR11A1	26531	broad.mit.edu	37	6	29394491	29394491	+	Missense_Mutation	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:29394491G>C	uc003nmg.2	-	1	1019	c.928C>G	c.(928-930)CAA>GAA	p.Q310E		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTTTCAGTTTGTTTGATACAG	0.468												
TRIM10	10107	broad.mit.edu	37	6	30122214	30122214	+	Silent	SNP	G	G	A	rs139417693		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30122214G>A	uc003npo.3	-	7	1054	c.978C>T	c.(976-978)TCC>TCT	p.S326S	TRIM10_uc003npn.2_Silent_p.S326S	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	326	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGTGGTCCTCGGACAAGAGGA	0.547												
TRIM26	7726	broad.mit.edu	37	6	30166571	30166571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30166571G>A	uc003npr.2	-	3	519	c.310C>T	c.(310-312)CGA>TGA	p.R104*	TRIM26_uc003nps.2_Nonsense_Mutation_p.R104*|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Nonsense_Mutation_p.R104*|TRIM26_uc003npu.1_Nonsense_Mutation_p.R104*	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	104	B box-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TCTCGGTGTCGCTCGCACAAC	0.642												
TRIM39	56658	broad.mit.edu	37	6	30303538	30303538	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30303538G>A	uc010jrz.2	+	5	878	c.566G>A	c.(565-567)CGC>CAC	p.R189H	TRIM39_uc003npz.2_Missense_Mutation_p.R189H|TRIM39_uc003nqb.2_Missense_Mutation_p.R189H|TRIM39_uc003nqc.2_Missense_Mutation_p.R189H|TRIM39_uc010jsa.1_Missense_Mutation_p.R189H	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	189	Potential.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GTGGAAAGTCGCCGACAGCAG	0.478												
ABCF1	23	broad.mit.edu	37	6	30557938	30557938	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:30557938C>T	uc003nql.2	+	23	2341	c.2246C>T	c.(2245-2247)GCG>GTG	p.A749V	ABCF1_uc003nqm.2_Missense_Mutation_p.A711V|ABCF1_uc010jsb.2_Missense_Mutation_p.A142V	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	749	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						GGTCAGAAGGCGCGAGTTGTG	0.537												
HLA-B	3106	broad.mit.edu	37	6	31323092	31323092	+	Splice_Site	SNP	A	A	G	rs80008536		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31323092A>G	uc003nth.2	-	4	949	c.895_splice	c.e4+1	p.E299_splice	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.E178_splice|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B						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						CCCCCTCCTTACCCCATCTCA	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
HLA-B	3106	broad.mit.edu	37	6	31323265	31323265	+	Nonsense_Mutation	SNP	G	G	A	rs41564218		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31323265G>A	uc003nth.2	-	4	778	c.724C>T	c.(724-726)CAG>TAG	p.Q242*	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_Nonsense_Mutation_p.Q121*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	242	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						CCATCCCGCTGCCAGGTCAGT	0.602									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
BAT2	7916	broad.mit.edu	37	6	31595600	31595600	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31595600G>A	uc003nvb.3	+	12	1598	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.R450Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	450	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						GAGGCATGGCGGCAGCGACGA	0.627												
HSPA1A	3303	broad.mit.edu	37	6	31785400	31785400	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31785400G>T	uc003nxj.2	+	1	2110	c.1867G>T	c.(1867-1869)GGG>TGG	p.G623W	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.G458W|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	623					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						TGGGGGCTTCGGGGCTCAGGG	0.592												
CFB	629	broad.mit.edu	37	6	31919243	31919243	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31919243T>C	uc003nyj.3	+	16	2360	c.2082T>C	c.(2080-2082)ACT>ACC	p.T694T	CFB_uc011dor.1_Silent_p.T1196T	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	694	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						ACCCCAATACTTGCAGAGGTG	0.517												
SKIV2L	6499	broad.mit.edu	37	6	31928060	31928060	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:31928060C>A	uc003nyn.1	+	4	689	c.300C>A	c.(298-300)TCC>TCA	p.S100S	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	100						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CAGTCCCATCCGACCTACAGG	0.522												
TNXB	7148	broad.mit.edu	37	6	32032630	32032630	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:32032630C>T	uc003nzl.2	-	19	7011	c.6809G>A	c.(6808-6810)CGC>CAC	p.R2270H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2342	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGGCCCACGCGCTGGCCACC	0.597												
HLA-DQA2	3118	broad.mit.edu	37	6	32713678	32713678	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:32713678C>T	uc003obx.2	+	3	500	c.442C>T	c.(442-444)CTG>TTG	p.L148L		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	148	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCACCTGGCTGAGCAATGG	0.507												
RING1	6015	broad.mit.edu	37	6	33179529	33179529	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:33179529C>T	uc003odk.2	+	6	1063	c.869C>T	c.(868-870)GCC>GTC	p.A290V	RING1_uc003odl.2_Missense_Mutation_p.A261V	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	290	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						ACTGGGAATGCCACAGTGGAC	0.612												
BTBD9	114781	broad.mit.edu	37	6	38562049	38562049	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:38562049G>T	uc003ooa.3	-	4	816	c.240C>A	c.(238-240)CTC>CTA	p.L80L	BTBD9_uc003ony.3_Silent_p.L12L|BTBD9_uc010jwv.2_Silent_p.L12L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.L80L	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	80	BTB.				cell adhesion						0						TGGTGTCTTGGAGAGGAATTT	0.458												
KLHDC3	116138	broad.mit.edu	37	6	42986439	42986439	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:42986439C>A	uc003otl.2	+	7	971	c.802C>A	c.(802-804)CTC>ATC	p.L268I	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.L244I|KLHDC3_uc003otn.2_Missense_Mutation_p.L152I|KLHDC3_uc003oto.2_Missense_Mutation_p.L209I	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	268	Kelch 5.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTCCATGACCTCTGGAAGTT	0.483												
ZNF318	24149	broad.mit.edu	37	6	43323496	43323496	+	Missense_Mutation	SNP	G	G	A	rs151197319	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:43323496G>A	uc003oux.2	-	4	1654	c.1576C>T	c.(1576-1578)CGT>TGT	p.R526C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGAAAGCTACGTCGCCTTTTT	0.493												
AARS2	57505	broad.mit.edu	37	6	44278779	44278779	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:44278779G>A	uc010jza.1	-	4	704	c.701C>T	c.(700-702)GCC>GTC	p.A234V	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	234					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGCTGGGGGGCTCCCACCCC	0.542												
SUPT3H	8464	broad.mit.edu	37	6	44922278	44922278	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:44922278A>T	uc003oxo.2	-	10	998	c.680T>A	c.(679-681)GTC>GAC	p.V227D	SUPT3H_uc003oxn.1_Missense_Mutation_p.V216D|SUPT3H_uc011dvv.1_Missense_Mutation_p.V64D|SUPT3H_uc003oxp.2_Missense_Mutation_p.V216D|SUPT3H_uc011dvw.1_Missense_Mutation_p.V130D	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	298					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						TTCCATTGCGACAACATTGGG	0.393												
GSTA2	2939	broad.mit.edu	37	6	52615457	52615457	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52615457T>G	uc003pay.2	-	7	737	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_000846	NP_000837	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	196	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CTGTAGAAACTTCTTCACTGT	0.453												
GCM1	8521	broad.mit.edu	37	6	52993350	52993350	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52993350C>T	uc003pbp.2	-	6	1174	c.965G>A	c.(964-966)AGC>AAC	p.S322N		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	322						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					GCAAGGCCAGCTGGTCAGAGG	0.478												
FILIP1	27145	broad.mit.edu	37	6	76022804	76022804	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:76022804G>A	uc003pia.2	-	5	3117	c.2744C>T	c.(2743-2745)ACA>ATA	p.T915I	FILIP1_uc003phy.1_Missense_Mutation_p.T915I|FILIP1_uc003phz.2_Missense_Mutation_p.T816I|FILIP1_uc010kbe.2_Missense_Mutation_p.T918I|FILIP1_uc003pib.1_Missense_Mutation_p.T667I	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	915										skin(3)|ovary(1)	4						GTGGTCTGGTGTCACTCGAAT	0.507												
SNAP91	9892	broad.mit.edu	37	6	84417621	84417621	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:84417621C>T	uc011dze.1	-	2	343	c.26G>A	c.(25-27)CGG>CAG	p.R9Q	SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Missense_Mutation_p.R9Q|SNAP91_uc003pkd.2_Missense_Mutation_p.R9Q|SNAP91_uc003pka.2_Missense_Mutation_p.R9Q|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	9					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGCGGCGATCCGATCCGTGAG	0.577												
SYNCRIP	10492	broad.mit.edu	37	6	86332298	86332298	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:86332298G>A	uc003pla.2	-	8	1451	c.910C>T	c.(910-912)CGT>TGT	p.R304C	SYNCRIP_uc003pku.2_Missense_Mutation_p.R304C|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Missense_Mutation_p.R206C|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R304C|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R152C|SYNCRIP_uc003pkz.2_Intron	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATTAACCTACGCCTTGCCTGG	0.433												
MDN1	23195	broad.mit.edu	37	6	90461210	90461210	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:90461210T>C	uc003pnn.1	-	23	3283	c.3167A>G	c.(3166-3168)TAC>TGC	p.Y1056C	MDN1_uc003pno.1_Missense_Mutation_p.Y475C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1056					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)		TGTCAGAATGTACGTCTCATC	0.498												
CASP8AP2	9994	broad.mit.edu	37	6	90577950	90577950	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:90577950T>C	uc003pnr.2	+	8	5137	c.4941T>C	c.(4939-4941)TGT>TGC	p.C1647C	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.C1647C|CASP8AP2_uc011dzz.1_Silent_p.C1647C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1647					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)		CTGATGAATGTTTCAAATTGC	0.373												
CD164	8763	broad.mit.edu	37	6	109690119	109690119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:109690119G>A	uc003pte.2	-	6	710	c.529C>T	c.(529-531)CAG>TAG	p.Q177*	CD164_uc003ptd.2_Intron|CD164_uc003ptf.2_Nonsense_Mutation_p.Q158*|CD164_uc011eap.1_Intron|CD164_uc010kdn.2_Nonsense_Mutation_p.Q164*	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	177	Helical; (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		ATTACAGCCTGCACACCCAAG	0.393												
AKD1	221264	broad.mit.edu	37	6	109814734	109814734	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:109814734A>G	uc003ptn.2	-	41	5651	c.5574T>C	c.(5572-5574)TAT>TAC	p.Y1858Y	AKD1_uc011eas.1_Silent_p.Y243Y	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1858					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TCTTCTTCTTATACTTTTTTC	0.363												
REV3L	5980	broad.mit.edu	37	6	111694064	111694064	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:111694064C>T	uc003puy.3	-	13	5817	c.5494G>A	c.(5494-5496)GTG>ATG	p.V1832M	REV3L_uc003pux.3_Missense_Mutation_p.V1754M|REV3L_uc003puz.3_Missense_Mutation_p.V1754M	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1832					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)		TCACAGGCCACGTCTACAAGT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
LAMA4	3910	broad.mit.edu	37	6	112493865	112493865	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:112493865C>A	uc003pvu.2	-	12	1808	c.1499G>T	c.(1498-1500)AGG>ATG	p.R500M	LAMA4_uc003pvv.2_Missense_Mutation_p.R493M|LAMA4_uc003pvt.2_Missense_Mutation_p.R493M	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	500	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCGGCATCCCTGACATAGTT	0.537												
COL10A1	1300	broad.mit.edu	37	6	116446526	116446526	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:116446526T>C	uc003pwm.2	-	2	226	c.130A>G	c.(130-132)ATT>GTT	p.I44V	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	44	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTGTAGGGAATGAAGAACTGT	0.358												
GJA1	2697	broad.mit.edu	37	6	121768698	121768698	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:121768698C>T	uc003pyr.2	+	2	955	c.705C>T	c.(703-705)GGC>GGT	p.G235G	GJA1_uc011ebo.1_Silent_p.G136G|GJA1_uc011ebp.1_Silent_p.G23G	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	235	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCAAGGGCGTTAAGGATC	0.488												
HDDC2	51020	broad.mit.edu	37	6	125621702	125621702	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:125621702T>C	uc003qaa.1	-	2	392	c.188A>G	c.(187-189)GAC>GGC	p.D63G	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	63	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)		GTTAAGACGGTCATCTTTGAT	0.498												
TMEM200A	114801	broad.mit.edu	37	6	130761733	130761733	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:130761733C>T	uc003qca.2	+	3	1037	c.166C>T	c.(166-168)CGG>TGG	p.R56W	TMEM200A_uc010kfh.2_Missense_Mutation_p.R56W|TMEM200A_uc010kfi.2_Missense_Mutation_p.R56W|TMEM200A_uc003qcb.2_Missense_Mutation_p.R56W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	56	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGCAAAATCCGGCTTTATTC	0.498												
EPB41L2	2037	broad.mit.edu	37	6	131206297	131206297	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:131206297T>C	uc003qch.2	-	12	1954	c.1772A>G	c.(1771-1773)GAC>GGC	p.D591G	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Missense_Mutation_p.D591G|EPB41L2_uc011eby.1_Missense_Mutation_p.D591G|EPB41L2_uc003qci.2_Missense_Mutation_p.D591G|EPB41L2_uc010kfk.2_Missense_Mutation_p.D591G|EPB41L2_uc010kfl.1_Missense_Mutation_p.D591G	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	591	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTCCTGCCGTCCCCATCTTG	0.473											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EYA4	2070	broad.mit.edu	37	6	133844197	133844197	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:133844197T>C	uc003qec.3	+	18	2078	c.1620T>C	c.(1618-1620)AGT>AGC	p.S540S	EYA4_uc011ecq.1_Silent_p.S486S|EYA4_uc011ecr.1_Silent_p.S492S|EYA4_uc003qed.3_Silent_p.S540S|EYA4_uc003qee.3_Silent_p.S517S|EYA4_uc011ecs.1_Silent_p.S546S|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	540					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)		ATTTTAGGAGTAACTGCATAA	0.333												
IFNGR1	3459	broad.mit.edu	37	6	137528210	137528210	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:137528210A>G	uc003qho.2	-	2	193	c.90T>C	c.(88-90)CCT>CCC	p.P30P	IFNGR1_uc011edm.1_Silent_p.P2P|IFNGR1_uc011edn.1_Silent_p.P20P	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	30	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TAGTTGGTGTAGGCACTGTAA	0.358												
HEBP2	23593	broad.mit.edu	37	6	138727163	138727163	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:138727163T>C	uc003qhw.1	+	3	591	c.294T>C	c.(292-294)GGT>GGC	p.G98G		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	98						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CTGGTTCAGGTCCTTTTAGTG	0.398												
C6orf97	80129	broad.mit.edu	37	6	151907169	151907169	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:151907169C>T	uc003qol.2	+	7	1327	c.1238C>T	c.(1237-1239)GCA>GTA	p.A413V		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	413	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		CACCTGGAGGCAGAGCTGGTT	0.488												
TIAM2	26230	broad.mit.edu	37	6	155578018	155578018	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:155578018G>T	uc003qqb.2	+	29	6142	c.4869G>T	c.(4867-4869)GAG>GAT	p.E1623D	TIAM2_uc003qqe.2_Missense_Mutation_p.E1623D|TIAM2_uc010kjj.2_Missense_Mutation_p.E1185D|TIAM2_uc003qqf.2_Missense_Mutation_p.E999D|TIAM2_uc011efl.1_Missense_Mutation_p.E967D|TIAM2_uc003qqg.2_Missense_Mutation_p.E935D|TIAM2_uc003qqh.2_Missense_Mutation_p.E548D|uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1623					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGGAGGAGAGCAGCCCAAAC	0.592												
TAGAP	117289	broad.mit.edu	37	6	159458069	159458069	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:159458069C>G	uc003qrz.2	-	10	1318	c.986G>C	c.(985-987)AGC>ACC	p.S329T	TAGAP_uc011eft.1_Missense_Mutation_p.S266T|TAGAP_uc003qsa.2_Missense_Mutation_p.S151T	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	329					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCTGCCTGCTGGGAGAGCT	0.622												
MLLT4	4301	broad.mit.edu	37	6	168265382	168265382	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:168265382T>A	uc003qwd.2	+	2	399	c.257T>A	c.(256-258)CTG>CAG	p.L86Q	MLLT4_uc003qwb.1_Missense_Mutation_p.L86Q|MLLT4_uc003qwc.1_Missense_Mutation_p.L86Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	86	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATGCGAATGCTGTCCTCTCCC	0.473			T	MLL	AL							
C6orf120	387263	broad.mit.edu	37	6	170102881	170102881	+	Missense_Mutation	SNP	A	A	G	rs144803739		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:170102881A>G	uc003qxb.2	+	1	625	c.326A>G	c.(325-327)CAC>CGC	p.H109R	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.H128R	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263 precursor	109						extracellular region					0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		ATCCCCGCGCACTTCCGGCGC	0.667												
CHST12	55501	broad.mit.edu	37	7	2472729	2472729	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:2472729C>T	uc003smc.2	+	2	590	c.455C>T	c.(454-456)TCG>TTG	p.S152L	CHST12_uc003smd.2_Missense_Mutation_p.S152L	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	152	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)		ATCCCCAACTCGGAGCTGAGC	0.667												
IQCE	23288	broad.mit.edu	37	7	2618111	2618111	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:2618111G>A	uc003smo.3	+	8	765	c.581G>A	c.(580-582)GGC>GAC	p.G194D	IQCE_uc010ksm.1_Missense_Mutation_p.G194D|IQCE_uc003sml.1_Missense_Mutation_p.G194D|IQCE_uc011jvy.1_Missense_Mutation_p.G178D|IQCE_uc011jvz.1_Missense_Mutation_p.G129D|IQCE_uc003smk.3_Missense_Mutation_p.G178D|IQCE_uc003smn.3_Missense_Mutation_p.G129D	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	194	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTACCACAGGGCACGGATTTT	0.602												
SDK1	221935	broad.mit.edu	37	7	4008919	4008919	+	Missense_Mutation	SNP	G	G	A	rs144938504		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:4008919G>A	uc003smx.2	+	11	1716	c.1577G>A	c.(1576-1578)CGG>CAG	p.R526Q		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	526	Ig-like C2-type 5.				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)		GGCTCTGTCCGGATTCCTAGG	0.502												
WIPI2	26100	broad.mit.edu	37	7	5266905	5266905	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5266905A>G	uc003snv.2	+	10	1159	c.943A>G	c.(943-945)AAC>GAC	p.N315D	WIPI2_uc003snw.2_Missense_Mutation_p.N315D|WIPI2_uc003snx.2_Missense_Mutation_p.N297D|WIPI2_uc003sny.2_Missense_Mutation_p.N297D|WIPI2_uc010ksv.2_Missense_Mutation_p.N171D|WIPI2_uc003soa.2_Missense_Mutation_p.N256D|WIPI2_uc003sob.2_Missense_Mutation_p.N58D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	315					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)		AGAAATGTTCAACCAGGGCAG	0.622												
WIPI2	26100	broad.mit.edu	37	7	5270512	5270512	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5270512C>T	uc003snv.2	+	13	1515	c.1299C>T	c.(1297-1299)GAC>GAT	p.D433D	WIPI2_uc003snw.2_Silent_p.D422D|WIPI2_uc003snx.2_Silent_p.D415D|WIPI2_uc003sny.2_Silent_p.D404D|WIPI2_uc010ksv.2_Silent_p.D289D|WIPI2_uc003soa.2_Silent_p.D363D|WIPI2_uc003sob.2_Silent_p.D176D	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	433					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)		GCCTGGAGGACGAGGCCAGCG	0.632												
SLC29A4	222962	broad.mit.edu	37	7	5334526	5334526	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:5334526C>T	uc003sod.2	+	6	741	c.580C>T	c.(580-582)CTG>TTG	p.L194L	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.L194L|SLC29A4_uc003soe.2_Silent_p.L180L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	194	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CACGGGGATGCTGCCCAAGCG	0.498												
THSD7A	221981	broad.mit.edu	37	7	11521576	11521576	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:11521576G>A	uc003ssf.3	-	7	2108	c.1856C>T	c.(1855-1857)GCC>GTC	p.A619V		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	619	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGGAAGATGGCATCTCTGCA	0.493										HNSCC(18;0.044)		
ITGB8	3696	broad.mit.edu	37	7	20418790	20418790	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:20418790G>A	uc003suu.2	+	4	1210	c.505G>A	c.(505-507)GTT>ATT	p.V169I	ITGB8_uc011jyh.1_Missense_Mutation_p.V34I|ITGB8_uc003sut.2_Missense_Mutation_p.V169I	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	169	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						ATTAAATTCCGTTGGAAACGA	0.338												
JAZF1	221895	broad.mit.edu	37	7	27934856	27934856	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:27934856C>T	uc003szn.2	-	3	609	c.368G>A	c.(367-369)CGC>CAC	p.R123H	JAZF1_uc003szm.2_Missense_Mutation_p.R59H	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	123					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131						AGTGCTGCTGCGGAATGAAGA	0.612			T	SUZ12	endometrial stromal tumours							
INMT	11185	broad.mit.edu	37	7	30795374	30795374	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:30795374A>G	uc003tbs.1	+	3	715	c.699A>G	c.(697-699)GAA>GAG	p.E233E	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.E232E	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	233						cytoplasm	amine N-methyltransferase activity				0						TTGACATTGAACAGCTCCTAC	0.577												
BBS9	27241	broad.mit.edu	37	7	33644526	33644526	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:33644526A>C	uc003tdn.1	+	22	3084	c.2571A>C	c.(2569-2571)GAA>GAC	p.E857D	BBS9_uc003tdo.1_Missense_Mutation_p.E822D|BBS9_uc003tdp.1_Missense_Mutation_p.E852D|BBS9_uc003tdq.1_Missense_Mutation_p.E817D|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.E381D|BBS9_uc003tds.1_Missense_Mutation_p.E280D|BBS9_uc003tdt.2_Intron	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	857					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GATCAGTAGAACAAGACTCTA	0.418									Bardet-Biedl_syndrome			
GPR141	353345	broad.mit.edu	37	7	37780104	37780104	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:37780104T>C	uc003tfm.1	+	1	109	c.109T>C	c.(109-111)TCC>CCC	p.S37P	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GGGTGTCATTTCCATTCTTTT	0.502												
INHBA	3624	broad.mit.edu	37	7	41729419	41729419	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:41729419T>C	uc003thq.2	-	2	1345	c.1110A>G	c.(1108-1110)TCA>TCG	p.S370S	INHBA_uc003thr.2_Silent_p.S370S	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	370					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TGATGACTGTTGAGTGGAAGG	0.562										TSP Lung(11;0.080)		
TNS3	64759	broad.mit.edu	37	7	47408631	47408631	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:47408631C>T	uc003tnv.2	-	17	1979	c.1612G>A	c.(1612-1614)GTT>ATT	p.V538I	TNS3_uc003tnw.2_Missense_Mutation_p.V538I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	538						focal adhesion	protein binding			ovary(4)	4						AGGTCCGGAACGAGGGTGCCC	0.632												
ABCA13	154664	broad.mit.edu	37	7	48318563	48318563	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:48318563T>C	uc003toq.2	+	18	7797	c.7772T>C	c.(7771-7773)TTG>TCG	p.L2591S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2591					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATGATTTGTTGGTGCCATTT	0.313												
ABCA13	154664	broad.mit.edu	37	7	48428702	48428702	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:48428702G>A	uc003toq.2	+	37	11564	c.11539G>A	c.(11539-11541)GTG>ATG	p.V3847M	ABCA13_uc010kys.1_Missense_Mutation_p.V921M|ABCA13_uc003tos.1_Missense_Mutation_p.V673M|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3847	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCTGGTGTCTGTGACCAAGGA	0.537												
IKZF1	10320	broad.mit.edu	37	7	50444307	50444307	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:50444307G>A	uc003tow.3	+	5	405	c.237G>A	c.(235-237)GCG>GCA	p.A79A	IKZF1_uc003tox.3_Silent_p.A79A|IKZF1_uc003toy.3_Silent_p.A79A|IKZF1_uc011kck.1_Intron|IKZF1_uc003toz.3_Silent_p.A49A|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	79					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AAGAATGTGCGGAGGATTTAC	0.498			D		ALL							
EGFR	1956	broad.mit.edu	37	7	55224509	55224509	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:55224509C>T	uc003tqk.2	+	10	1437	c.1191C>T	c.(1189-1191)ACC>ACT	p.T397T	EGFR_uc003tqh.2_Silent_p.T397T|EGFR_uc003tqi.2_Silent_p.T397T|EGFR_uc003tqj.2_Silent_p.T397T|EGFR_uc010kzg.1_Silent_p.T352T|EGFR_uc011kco.1_Silent_p.T344T|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	397	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)	TTCTGAAAACCGTAAAGGAAA	0.393		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ZNF107	51427	broad.mit.edu	37	7	64168653	64168653	+	Silent	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:64168653T>A	uc003ttd.2	+	7	2757	c.1971T>A	c.(1969-1971)ATT>ATA	p.I657I	ZNF107_uc003tte.2_Silent_p.I657I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	657	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAGATAATTCATACTGGAG	0.373												
ASL	435	broad.mit.edu	37	7	65546853	65546853	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:65546853G>A	uc003tuo.2	+	3	187	c.76G>A	c.(76-78)GCG>ACG	p.A26T	ASL_uc011kdu.1_Missense_Mutation_p.A26T|ASL_uc010kzx.1_Missense_Mutation_p.A26T|ASL_uc011kdv.1_Missense_Mutation_p.A26T|ASL_uc003tup.2_Missense_Mutation_p.A26T|ASL_uc003tur.2_Missense_Mutation_p.A26T|ASL_uc003tuq.2_Missense_Mutation_p.A26T	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	26					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	GAAGTTCAACGCGTCCATTGC	0.587												
CALN1	83698	broad.mit.edu	37	7	71571249	71571249	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:71571249C>T	uc003twa.3	-	3	676	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CALN1_uc003twb.3_Missense_Mutation_p.R92Q|CALN1_uc003twc.3_Missense_Mutation_p.R50Q	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	50	EF-hand 1.|Cytoplasmic (Potential).|1 (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GTTCCCATCCCGGTCCAGAAC	0.542												
CLDN4	1364	broad.mit.edu	37	7	73245572	73245572	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:73245572C>T	uc003tzi.3	+	1	380	c.41C>T	c.(40-42)GCC>GTC	p.A14V	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	14	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657												
LAT2	7462	broad.mit.edu	37	7	73638400	73638400	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:73638400A>G	uc003uag.2	+	12	1051	c.501A>G	c.(499-501)TCA>TCG	p.S167S	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Silent_p.S167S|LAT2_uc003uai.2_Silent_p.S167S|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	167	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						TCAGCCTGTCACTGGCCCTGA	0.597												
RSBN1L	222194	broad.mit.edu	37	7	77379112	77379112	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:77379112G>A	uc010ldt.1	+	3	1119	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	RSBN1L_uc003ugm.2_Missense_Mutation_p.A141T	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	359						nucleus				ovary(1)	1						TAATGGAGGTGCATCGGTTAT	0.438												
GNAI1	2770	broad.mit.edu	37	7	79828642	79828642	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:79828642T>C	uc003uhb.1	+	4	742	c.405T>C	c.(403-405)GGT>GGC	p.G135G	GNAI1_uc011kgt.1_Silent_p.G83G	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	135					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGATAGTGGTGTACAAGCCT	0.403												
SEMA3D	223117	broad.mit.edu	37	7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:84628962G>A	uc003uic.2	-	17	2168	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	SEMA3D_uc010led.2_Missense_Mutation_p.R710W|SEMA3D_uc003uib.2_Missense_Mutation_p.R349W	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	710					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TATCTCAACCGTGACTCAGCC	0.488												
ABCB1	5243	broad.mit.edu	37	7	87173503	87173503	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:87173503G>A	uc003uiz.1	-	18	2571	c.2153C>T	c.(2152-2154)GCC>GTC	p.A718V	ABCB1_uc011khc.1_Missense_Mutation_p.A654V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	718	ABC transmembrane type-1 2.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTATAATGGCACAAAATAC	0.358												
SAMD9L	219285	broad.mit.edu	37	7	92762328	92762328	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:92762328C>T	uc003umh.1	-	5	4173	c.2957G>A	c.(2956-2958)CGT>CAT	p.R986H	SAMD9L_uc003umj.1_Missense_Mutation_p.R986H|SAMD9L_uc003umi.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfb.1_Missense_Mutation_p.R986H|SAMD9L_uc003umk.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfc.1_Missense_Mutation_p.R986H|SAMD9L_uc010lfd.1_Missense_Mutation_p.R986H|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	986										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)			GTGAATGATACGCACACCTGT	0.378												
SLC25A13	10165	broad.mit.edu	37	7	95799420	95799420	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:95799420C>A	uc003uof.3	-	13	1439	c.1248G>T	c.(1246-1248)AGG>AGT	p.R416S	SLC25A13_uc003uog.3_Missense_Mutation_p.R417S|SLC25A13_uc011kik.1_Missense_Mutation_p.R308S	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	416	Solcar 1.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TAAATTTATCCCTCACAAAAT	0.338												
TRRAP	8295	broad.mit.edu	37	7	98567888	98567888	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:98567888C>T	uc003upp.2	+	51	7854	c.7645C>T	c.(7645-7647)CGG>TGG	p.R2549W	TRRAP_uc011kis.1_Missense_Mutation_p.R2531W|TRRAP_uc003upr.2_Missense_Mutation_p.R2248W	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2549					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCCGGGAGCGGGAGAACAG	0.637												
PTCD1	26024	broad.mit.edu	37	7	99032463	99032463	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99032463T>A	uc003uqh.2	-	2	534	c.403A>T	c.(403-405)ACC>TCC	p.T135S	PTCD1_uc011kiw.1_Missense_Mutation_p.T184S	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	135	PPR 1.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTACGGGGTGTTTCTCCGG	0.552												
ZKSCAN5	23660	broad.mit.edu	37	7	99123463	99123463	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99123463T>C	uc003uqv.2	+	6	924	c.800T>C	c.(799-801)CTC>CCC	p.L267P	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.L267P|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.L267P|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.L194P|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.L3P	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATATGGAGCTCATAGTGAAG	0.423												
ZKSCAN1	7586	broad.mit.edu	37	7	99627895	99627895	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99627895G>T	uc003usk.1	+	5	915	c.696G>T	c.(694-696)ATG>ATT	p.M232I	ZKSCAN1_uc003usl.1_Missense_Mutation_p.M196I|ZKSCAN1_uc003usm.1_Missense_Mutation_p.M19I	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	232	KRAB.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGGACATGGCTGTGTCCC	0.502												
TAF6	6878	broad.mit.edu	37	7	99709350	99709350	+	Splice_Site	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:99709350C>T	uc003uti.2	-	9	981	c.900_splice	c.e9+1	p.Y300_splice	TAF6_uc003utg.2_Splice_Site_p.Y222_splice|TAF6_uc003uth.2_Splice_Site_p.Y357_splice|TAF6_uc003utk.2_Splice_Site_p.Y300_splice|TAF6_uc011kji.1_Splice_Site_p.Y337_splice|TAF6_uc003utj.2_Splice_Site_p.Y290_splice|TAF6_uc003utl.2_Splice_Site_p.Y300_splice|TAF6_uc003utm.2_Splice_Site_p.Y300_splice|TAF6_uc003utn.1_Splice_Site	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha						negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGATCACTCACGTATTTTTCT	0.463												
ZAN	7455	broad.mit.edu	37	7	100388641	100388641	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100388641A>G	uc003uwj.2	+	41	7600	c.7435A>G	c.(7435-7437)ATG>GTG	p.M2479V	ZAN_uc003uwk.2_Missense_Mutation_p.M2479V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2479	VWFD 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAAGAATGACATGATGCTGCC	0.607												
MUC17	140453	broad.mit.edu	37	7	100678670	100678670	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100678670A>G	uc003uxp.1	+	3	4026	c.3973A>G	c.(3973-3975)ACC>GCC	p.T1325A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1325	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCTGAAGGTACCAGCATGCC	0.463												
ZNHIT1	10467	broad.mit.edu	37	7	100866016	100866016	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:100866016G>A	uc003uye.2	+	2	646	c.154G>A	c.(154-156)GGC>AGC	p.G52S	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	52							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCTCAGCTCGGCAAGAGACT	0.662												
SLC26A5	375611	broad.mit.edu	37	7	103038409	103038409	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:103038409T>C	uc003vbz.2	-	9	1177	c.941A>G	c.(940-942)AAT>AGT	p.N314S	SLC26A5_uc003vbt.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbu.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbv.1_Missense_Mutation_p.N314S|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.N314S|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	314	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GACATCCACATTGTATGATTC	0.373												
ORC5L	5001	broad.mit.edu	37	7	103824586	103824586	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:103824586C>T	uc003vcb.2	-	7	829	c.718G>A	c.(718-720)GTG>ATG	p.V240M	ORC5L_uc011klp.1_Missense_Mutation_p.V108M|ORC5L_uc003vcc.2_Missense_Mutation_p.V240M	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	240					cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						CCTTTAACCACGGGTTCACAA	0.249												
PIK3CG	5294	broad.mit.edu	37	7	106522606	106522606	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:106522606T>A	uc003vdv.3	+	7	2668	c.2583T>A	c.(2581-2583)GAT>GAA	p.D861E	PIK3CG_uc003vdu.2_Missense_Mutation_p.D861E|PIK3CG_uc003vdw.2_Missense_Mutation_p.D861E	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	861	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AATCTTTGGATCTATGCCTCC	0.343												
HBP1	26959	broad.mit.edu	37	7	106820374	106820374	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:106820374T>C	uc003vdy.2	+	2	222	c.36T>C	c.(34-36)AAT>AAC	p.N12N	HBP1_uc011klv.1_Silent_p.N22N|HBP1_uc003vdz.2_Silent_p.N12N|HBP1_uc003vea.2_Silent_p.N12N|HBP1_uc003veb.1_Silent_p.N12N	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	12					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1						AGATGCCTAATGCAGTACAGA	0.418												
LAMB4	22798	broad.mit.edu	37	7	107692696	107692696	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107692696T>G	uc010ljo.1	-	26	3846	c.3762A>C	c.(3760-3762)CAA>CAC	p.Q1254H	LAMB4_uc003vey.2_Missense_Mutation_p.Q1254H|LAMB4_uc010ljp.1_Missense_Mutation_p.Q223H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1254	Domain II.|Potential.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCTGCATGATTTGTCTTCTAT	0.333												
LAMB4	22798	broad.mit.edu	37	7	107738871	107738871	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107738871G>A	uc010ljo.1	-	11	1421	c.1337C>T	c.(1336-1338)GCC>GTC	p.A446V	LAMB4_uc003vey.2_Missense_Mutation_p.A446V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	446	Laminin EGF-like 3.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GGGGTCGGTGGCGCTTAGTCC	0.547												
NRCAM	4897	broad.mit.edu	37	7	107824928	107824928	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:107824928C>A	uc003vfb.2	-	21	2637	c.2166G>T	c.(2164-2166)ATG>ATT	p.M722I	NRCAM_uc003vfc.2_Missense_Mutation_p.M706I|NRCAM_uc011kmk.1_Missense_Mutation_p.M717I|NRCAM_uc003vfd.2_Missense_Mutation_p.M698I|NRCAM_uc003vfe.2_Missense_Mutation_p.M698I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	722	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TGTTCACTGCCATCACGCGGA	0.547												
ANKRD7	56311	broad.mit.edu	37	7	117865046	117865046	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:117865046G>A	uc003vji.2	+	1	335	c.162G>A	c.(160-162)ATG>ATA	p.M54I		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	54					male gonad development						0						ATGTAAATATGCAGGACAAAA	0.458												
PTPRZ1	5803	broad.mit.edu	37	7	121659280	121659280	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:121659280T>G	uc003vjy.2	+	13	5341	c.4946T>G	c.(4945-4947)TTT>TGT	p.F1649C	PTPRZ1_uc003vjz.2_Missense_Mutation_p.F789C|PTPRZ1_uc011knt.1_Missense_Mutation_p.F239C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1649	Helical; (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						GCCCTGACTTTTATCTGTCTA	0.413												
AASS	10157	broad.mit.edu	37	7	121773676	121773676	+	Silent	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:121773676G>T	uc003vka.2	-	1	201	c.105C>A	c.(103-105)GCC>GCA	p.A35A	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.A35A|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	35	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTCTCTCCCAGGCGTTCACAT	0.577												
CADPS2	93664	broad.mit.edu	37	7	122269329	122269329	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:122269329C>T	uc010lkp.2	-	4	1003	c.840G>A	c.(838-840)CGG>CGA	p.R280R	CADPS2_uc010lkq.2_Silent_p.R280R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	280					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CCAATTGCAGCCGGCCATCAA	0.358												
RNF148	378925	broad.mit.edu	37	7	122342177	122342177	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:122342177C>T	uc003vkk.1	-	1	845	c.628G>A	c.(628-630)GTC>ATC	p.V210I	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	210						integral to membrane	zinc ion binding				0						AGTCTCCAGACGCAATCTAAG	0.448												
GRM8	2918	broad.mit.edu	37	7	126883204	126883204	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:126883204C>A	uc003vlr.2	-	1	366	c.55G>T	c.(55-57)GCC>TCC	p.A19S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A19S|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	19					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)	TAGAACTTGGCGGTCAAGAGG	0.478										HNSCC(24;0.065)		
FLNC	2318	broad.mit.edu	37	7	128483511	128483511	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:128483511C>T	uc003vnz.3	+	18	2900	c.2691C>T	c.(2689-2691)GCC>GCT	p.A897A	FLNC_uc003voa.3_Silent_p.A897A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	897	Filamin 7.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCAAGGGAGCCGGCAAGGCCA	0.592												
AKR1B1	231	broad.mit.edu	37	7	134130027	134130027	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:134130027T>G	uc003vrp.1	-	9	945	c.871A>C	c.(871-873)AGC>CGC	p.S291R	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	291					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	CTGTTGTAGCTGAGTAAGGTG	0.438												
SLC13A4	26266	broad.mit.edu	37	7	135380132	135380132	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:135380132G>A	uc003vta.2	-	9	1689	c.1000C>T	c.(1000-1002)CTG>TTG	p.L334L	SLC13A4_uc003vtb.2_Silent_p.L335L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	334						integral to plasma membrane	sodium:sulfate symporter activity				0						CCCAGGAACAGCCAGTGCATC	0.577												
KLRG2	346689	broad.mit.edu	37	7	139168322	139168322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:139168322C>A	uc003vvb.2	-	1	136	c.67G>T	c.(67-69)GGA>TGA	p.G23*	KLRG2_uc010lnc.2_Nonsense_Mutation_p.G23*	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	23	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					ACCAGGCTTCCCACGGGCTCC	0.716												
AGK	55750	broad.mit.edu	37	7	141315316	141315316	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141315316A>G	uc003vwi.2	+	8	640	c.469A>G	c.(469-471)ACC>GCC	p.T157A	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	157	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					ACTGGGAGAGACCAGTAGTTT	0.448												
WEE2	494551	broad.mit.edu	37	7	141422976	141422976	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141422976G>T	uc003vwn.2	+	6	1329	c.923G>T	c.(922-924)GGC>GTC	p.G308V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	308	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					ACTAAGTCTGGCAATCATTTT	0.423												
TAS2R4	50832	broad.mit.edu	37	7	141478568	141478568	+	Missense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:141478568A>T	uc003vwq.1	+	1	280	c.280A>T	c.(280-282)AGC>TGC	p.S94C		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	94	Helical; Name=3; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TTTGGACTCGAGCAGTGTCTG	0.423												
ARHGEF5	7984	broad.mit.edu	37	7	144070295	144070295	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:144070295G>A	uc003wel.2	+	10	4176	c.4058G>A	c.(4057-4059)CGG>CAG	p.R1353Q	ARHGEF5_uc003wek.2_Missense_Mutation_p.R1353Q|ARHGEF5_uc003wem.2_Missense_Mutation_p.R208Q	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1353	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					TAGCTGATCCGGGACTGCAAT	0.493												
CUL1	8454	broad.mit.edu	37	7	148454195	148454195	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:148454195C>T	uc010lpg.2	+	4	962	c.436C>T	c.(436-438)CGC>TGC	p.R146C	CUL1_uc003wey.2_Missense_Mutation_p.R146C|CUL1_uc003wez.2_Missense_Mutation_p.R36C	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACATTGGGTTCGCCGTGAATG	0.318												
ZNF425	155054	broad.mit.edu	37	7	148801971	148801971	+	Missense_Mutation	SNP	T	T	C	rs146873821	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:148801971T>C	uc003wfj.2	-	4	1065	c.992A>G	c.(991-993)CAG>CGG	p.Q331R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	331	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGCGGACACTGGAAGGGCTT	0.672												
ZNF746	155061	broad.mit.edu	37	7	149171815	149171815	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:149171815T>C	uc003wfw.2	-	7	1866	c.1595A>G	c.(1594-1596)CAC>CGC	p.H532R	ZNF746_uc010lpi.2_Missense_Mutation_p.H533R	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	532	C2H2-type 2.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCGCCGGTGTGCAGCATGCG	0.637												
KCNH2	3757	broad.mit.edu	37	7	150648700	150648700	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:150648700C>T	uc003wic.2	-	7	1794	c.1781G>A	c.(1780-1782)GGC>GAC	p.G594D	KCNH2_uc003wib.2_Missense_Mutation_p.G254D|KCNH2_uc011kux.1_Missense_Mutation_p.G498D|KCNH2_uc003wid.2_Missense_Mutation_p.G254D|KCNH2_uc003wie.2_Missense_Mutation_p.G594D	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	594	Extracellular (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGGGTTTGCCTATCTGGTC	0.612												
PTPRN2	5799	broad.mit.edu	37	7	158109597	158109597	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:158109597A>G	uc003wno.2	-	3	312	c.191T>C	c.(190-192)GTT>GCT	p.V64A	PTPRN2_uc003wnp.2_Missense_Mutation_p.V47A|PTPRN2_uc003wnq.2_Missense_Mutation_p.V64A|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Missense_Mutation_p.V87A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	64	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGCCGGAACCTTCTGGCA	0.577												
ARHGEF10	9639	broad.mit.edu	37	8	1844563	1844563	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:1844563C>A	uc003wpr.2	+	14	1683	c.1505C>A	c.(1504-1506)GCA>GAA	p.A502E	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A527E|ARHGEF10_uc003wps.2_Missense_Mutation_p.A464E|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A378E|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A235E|ARHGEF10_uc010lre.2_Missense_Mutation_p.A182E	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	527	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACAGCCGTGGCAGTCCTCAAG	0.393												
MYOM2	9172	broad.mit.edu	37	8	2024225	2024225	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2024225T>C	uc003wpx.3	+	11	1263	c.1125T>C	c.(1123-1125)GCT>GCC	p.A375A	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	375					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)		CCCAAGATGCTGACCCGCTGG	0.592												
MYOM2	9172	broad.mit.edu	37	8	2033495	2033495	+	Missense_Mutation	SNP	G	G	T	rs137923713	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2033495G>T	uc003wpx.3	+	14	1755	c.1617G>T	c.(1615-1617)AAG>AAT	p.K539N	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	539	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCGTGGCAAGGACCCGCTCA	0.597												
MYOM2	9172	broad.mit.edu	37	8	2050557	2050557	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2050557T>C	uc003wpx.3	+	21	2858	c.2720T>C	c.(2719-2721)GTA>GCA	p.V907A	MYOM2_uc011kwi.1_Missense_Mutation_p.V332A	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	907	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)		CCTGTGCTGGTAGAGGCGAGA	0.512												
CSMD1	64478	broad.mit.edu	37	8	2832084	2832084	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:2832084A>G	uc011kwk.1	-	56	9022	c.8632T>C	c.(8632-8634)TAT>CAT	p.Y2878H	CSMD1_uc011kwj.1_Missense_Mutation_p.Y2207H|CSMD1_uc010lrg.2_Missense_Mutation_p.Y888H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2878	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGGCGCCATAGGTAAACAGC	0.557												
CSMD1	64478	broad.mit.edu	37	8	3000057	3000057	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:3000057C>T	uc011kwk.1	-	41	6564	c.6174G>A	c.(6172-6174)ACG>ACA	p.T2058T	CSMD1_uc011kwj.1_Silent_p.T1450T|CSMD1_uc010lrg.2_Silent_p.T126T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2058	Extracellular (Potential).|CUB 12.					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)		GGGTTTCATGCGTTGTGCTCA	0.478												
CSMD1	64478	broad.mit.edu	37	8	3474261	3474261	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:3474261T>C	uc011kwk.1	-	8	1458	c.1068A>G	c.(1066-1068)GAA>GAG	p.E356E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	356	Extracellular (Potential).|Sushi 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)		TTCTACCATTTTCTGGAATCC	0.378												
AGPAT5	55326	broad.mit.edu	37	8	6605313	6605313	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:6605313G>A	uc003wqo.2	+	6	1021	c.709G>A	c.(709-711)GAT>AAT	p.D237N	AGPAT5_uc011kwm.1_Intron	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	237					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGGAAAGACGATGGAGGGCA	0.433												
SGK223	157285	broad.mit.edu	37	8	8235191	8235191	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:8235191G>A	uc003wsh.3	-	2	728	c.728C>T	c.(727-729)TCG>TTG	p.S243L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	243							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCCGGAGGGCGAGCACCTTTG	0.652												
TNKS	8658	broad.mit.edu	37	8	9564375	9564375	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:9564375G>A	uc003wss.2	+	8	1329	c.1324G>A	c.(1324-1326)GCT>ACT	p.A442T	TNKS_uc011kwv.1_Missense_Mutation_p.A442T|TNKS_uc011kww.1_Missense_Mutation_p.A205T	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	442	ANK 6.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		ACTGCACGAGGCTGCTTCCAA	0.448												
RP1L1	94137	broad.mit.edu	37	8	10465956	10465956	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10465956C>T	uc003wtc.2	-	4	5881	c.5652G>A	c.(5650-5652)CAG>CAA	p.Q1884Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1884					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCTC	0.622												
RP1L1	94137	broad.mit.edu	37	8	10468348	10468348	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10468348C>T	uc003wtc.2	-	4	3489	c.3260G>A	c.(3259-3261)AGG>AAG	p.R1087K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1087					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CATCAGCGCCCTCATGATCTG	0.692												
RP1L1	94137	broad.mit.edu	37	8	10470816	10470816	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:10470816C>T	uc003wtc.2	-	4	1021	c.792G>A	c.(790-792)TCG>TCA	p.S264S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	264					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCGGAGACCGCGAATGGATCA	0.632												
AMAC1L2	83650	broad.mit.edu	37	8	11189448	11189448	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:11189448A>G	uc003wtp.1	+	1	954	c.833A>G	c.(832-834)CAC>CGC	p.H278R		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	278	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		ACCAAGGCCCACCCTGCCCTG	0.567												
NEIL2	252969	broad.mit.edu	37	8	11643661	11643661	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:11643661C>T	uc003wug.2	+	5	1553	c.878C>T	c.(877-879)GCT>GTT	p.A293V	NEIL2_uc003wue.2_Missense_Mutation_p.A293V|NEIL2_uc003wuf.2_Missense_Mutation_p.A232V|NEIL2_uc011kxd.1_Missense_Mutation_p.A177V	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	293	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CAGTGCCCTGCTGGCCACCAG	0.607								BER_DNA_glycosylases				
MTUS1	57509	broad.mit.edu	37	8	17612117	17612117	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17612117C>T	uc003wxv.2	-	2	1674	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.P400P|MTUS1_uc010lsz.2_Silent_p.P400P	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	400						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TTTGTCCTGGCGGGCTACTTA	0.448												
FGL1	2267	broad.mit.edu	37	8	17739683	17739683	+	Silent	SNP	G	G	A	rs146639128		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17739683G>A	uc003wxx.2	-	4	393	c.69C>T	c.(67-69)CTC>CTT	p.L23L	FGL1_uc003wxy.2_Silent_p.L23L|FGL1_uc003wxz.2_Silent_p.L23L|FGL1_uc003wya.2_Silent_p.L23L|FGL1_uc003wyb.2_Silent_p.L23L|FGL1_uc003wyc.2_Silent_p.L23L|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.L73L|FGL1_uc003wyf.2_5'UTR	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	23	Potential.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CACAGTCCTCGAGCGCCTGCA	0.488												
PCM1	5108	broad.mit.edu	37	8	17796319	17796319	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17796319G>A	uc003wyi.3	+	5	835	c.413G>A	c.(412-414)CGA>CAA	p.R138Q	PCM1_uc011kyh.1_Missense_Mutation_p.R138Q|PCM1_uc003wyj.3_Missense_Mutation_p.R138Q|PCM1_uc003wyg.2_Missense_Mutation_p.R138Q|PCM1_uc003wyh.2_Missense_Mutation_p.R138Q|PCM1_uc010lta.1_Missense_Mutation_p.R138Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	138					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AGTGAAAACCGAAAGCCCTTC	0.398			T	RET|JAK2	papillary thyroid|CML|MPD							
ASAH1	427	broad.mit.edu	37	8	17915118	17915118	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:17915118T>C	uc003wyl.2	-	14	1425	c.1113A>G	c.(1111-1113)ACA>ACG	p.T371T	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Silent_p.T346T|ASAH1_uc003wyn.2_Silent_p.T387T|ASAH1_uc003wyo.2_Silent_p.T365T	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	371					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTATCAAGGTTGTGTATACGG	0.393												
FAM160B2	64760	broad.mit.edu	37	8	21958207	21958207	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21958207G>A	uc011kyx.1	+	11	1495	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	482											0						CCGCCCTTACGTGGCCTGGGG	0.627												
HR	55806	broad.mit.edu	37	8	21980012	21980012	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21980012G>A	uc003xas.2	-	8	2780	c.2115C>T	c.(2113-2115)GGC>GGT	p.G705G	HR_uc003xat.2_Silent_p.G705G	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	705							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTACCTGCTGGCCTGCATCCC	0.612												
LGI3	203190	broad.mit.edu	37	8	22006196	22006196	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22006196C>T	uc003xav.2	-	8	1413	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	LGI3_uc010ltu.2_Missense_Mutation_p.R351H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	375	EAR 4.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTCGGTGTCACGGTGCCAGGG	0.632												
BMP1	649	broad.mit.edu	37	8	22053004	22053004	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22053004G>A	uc003xbg.2	+	13	1913	c.1669G>A	c.(1669-1671)GGG>AGG	p.G557R	BMP1_uc003xba.2_Missense_Mutation_p.G557R|BMP1_uc003xbb.2_Missense_Mutation_p.G557R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.G306R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.G306R|BMP1_uc011kzc.1_Missense_Mutation_p.G306R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	557	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCCCAACCGCGGGGGCTGTGA	0.632												
BIN3	55909	broad.mit.edu	37	8	22488012	22488012	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:22488012G>A	uc003xcl.2	-	5	337	c.240C>T	c.(238-240)AAC>AAT	p.N80N	BIN3_uc003xck.2_Silent_p.N32N|BIN3_uc010ltw.2_Silent_p.N26N	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	80	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCGTCACCATGTTCAGAAGGT	0.542												
NEFL	4747	broad.mit.edu	37	8	24813503	24813503	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:24813503G>A	uc003xee.2	-	1	629	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	176	Rod.|Coil 1B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTCATAGCGCGCCTGCAGGTT	0.716												
SCARA3	51435	broad.mit.edu	37	8	27516873	27516873	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:27516873C>A	uc003xga.1	+	5	1327	c.1186C>A	c.(1186-1188)CTC>ATC	p.L396I	SCARA3_uc003xgb.1_Missense_Mutation_p.L396I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	396	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TGCCGAGGAGCTCTACTACCT	0.607												
KIF13B	23303	broad.mit.edu	37	8	28974391	28974391	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:28974391A>G	uc003xhh.3	-	31	3853	c.3794T>C	c.(3793-3795)CTG>CCG	p.L1265P	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1265					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCGTAACACCAGTTGCATGTC	0.592												
WHSC1L1	54904	broad.mit.edu	37	8	38133958	38133958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:38133958G>A	uc003xli.2	-	23	4446	c.3928C>T	c.(3928-3930)CGA>TGA	p.R1310*	WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R1299*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R1261*|WHSC1L1_uc003xlh.2_Nonsense_Mutation_p.R89*	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1310					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGATCTTTCGTCTCTTCTGT	0.403			T	NUP98	AML							
TM2D2	83877	broad.mit.edu	37	8	38851174	38851174	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:38851174G>A	uc003xmk.2	-	3	404	c.321C>T	c.(319-321)GGC>GGT	p.G107G	TM2D2_uc003xml.2_Silent_p.G64G|TM2D2_uc003xmm.2_Silent_p.G64G|TM2D2_uc003xmn.2_Silent_p.G64G	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	107						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)			AGGCCTGACCGCCGAACTGTG	0.453												
ANK1	286	broad.mit.edu	37	8	41530009	41530009	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:41530009A>G	uc003xok.2	-	38	5043	c.4959T>C	c.(4957-4959)TCT>TCC	p.S1653S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.S1653S|ANK1_uc003xoj.2_Silent_p.S1653S|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.S1694S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1653	55 kDa regulatory domain.				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)			CCTGCCTCTTAGAACCTGGCA	0.527												
RNF170	81790	broad.mit.edu	37	8	42716936	42716936	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:42716936A>G	uc003xpo.2	-	6	936	c.459T>C	c.(457-459)CAT>CAC	p.H153H	RNF170_uc011lcx.1_Intron|RNF170_uc010lxp.2_Silent_p.H69H|RNF170_uc003xpm.2_Silent_p.H153H|RNF170_uc003xpp.2_Silent_p.H57H|RNF170_uc003xpn.2_Silent_p.H57H|RNF170_uc003xpq.3_Silent_p.H153H	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	153						integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TAATATCCTGATGCAATCTCA	0.353												
HOOK3	84376	broad.mit.edu	37	8	42798549	42798549	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:42798549C>T	uc003xpr.2	+	5	603	c.361C>T	c.(361-363)CTC>TTC	p.L121F	HOOK3_uc010lxq.1_Missense_Mutation_p.L121F	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	121	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GATGCTTCAGCTCATCTTAGG	0.378			T	RET	papillary thyroid							
PRKDC	5591	broad.mit.edu	37	8	48733488	48733488	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:48733488T>C	uc003xqi.2	-	67	9185	c.9128A>G	c.(9127-9129)TAC>TGC	p.Y3043C	PRKDC_uc003xqj.2_Missense_Mutation_p.Y3043C|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3043	KIP-binding.|FAT.				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)				GCGGATCATGTAAGGTAGATA	0.413								NHEJ				
SNTG1	54212	broad.mit.edu	37	8	51314811	51314811	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:51314811G>A	uc010lxy.1	+	5	440	c.69G>A	c.(67-69)GAG>GAA	p.E23E	SNTG1_uc003xqs.1_Silent_p.E23E|SNTG1_uc010lxz.1_Silent_p.E23E|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	23					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTAACCAGGAGCCTTTCAAAG	0.383												
MOS	4342	broad.mit.edu	37	8	57025621	57025621	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:57025621C>T	uc011leb.1	-	1	921	c.921G>A	c.(919-921)TCG>TCA	p.S307S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	307	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)			GCCCGGGGAGCGAGTCCTCGA	0.692												
NSMAF	8439	broad.mit.edu	37	8	59548042	59548042	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:59548042G>A	uc003xtt.2	-	3	427	c.213C>T	c.(211-213)TCC>TCT	p.S71S	NSMAF_uc011lee.1_Silent_p.S102S|NSMAF_uc003xtu.2_Silent_p.S71S	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	71					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TGATGGGCTGGGATATTGAAT	0.313												
C8orf45	157777	broad.mit.edu	37	8	67786678	67786678	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:67786678A>G	uc003xwz.3	+	3	383	c.212A>G	c.(211-213)GAA>GGA	p.E71G	C8orf45_uc003xwv.2_Missense_Mutation_p.E71G|C8orf45_uc011lev.1_Missense_Mutation_p.E71G|C8orf45_uc011lew.1_Intron|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.E71G	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	71					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAGCTGCTGAAGTCTTTCAA	0.313												
PREX2	80243	broad.mit.edu	37	8	68930142	68930142	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:68930142A>G	uc003xxv.1	+	2	230	c.203A>G	c.(202-204)GAA>GGA	p.E68G	PREX2_uc003xxu.1_Missense_Mutation_p.E68G|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	68	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGACAGAAGAAACAGTGAAG	0.418												
SULF1	23213	broad.mit.edu	37	8	70536271	70536271	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70536271A>C	uc010lza.1	+	15	2406	c.1689A>C	c.(1687-1689)GAA>GAC	p.E563D	SULF1_uc003xyd.2_Missense_Mutation_p.E563D|SULF1_uc003xye.2_Missense_Mutation_p.E563D|SULF1_uc003xyf.2_Missense_Mutation_p.E563D|SULF1_uc003xyg.2_Missense_Mutation_p.E563D|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	563					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGAAGAAGAAGAATTGCAAG	0.463												
SLCO5A1	81796	broad.mit.edu	37	8	70585382	70585382	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70585382A>C	uc003xyl.2	-	10	2976	c.2269T>G	c.(2269-2271)TGG>GGG	p.W757G	SLCO5A1_uc010lzb.2_Missense_Mutation_p.W702G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	757	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGAGTACCAGGCCAGAAAA	0.498												
PRDM14	63978	broad.mit.edu	37	8	70981746	70981746	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:70981746C>T	uc003xym.2	-	2	552	c.350G>A	c.(349-351)AGC>AAC	p.S117N		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCGTGGCTGCTGCTCAGGAA	0.592												
NCOA2	10499	broad.mit.edu	37	8	71039221	71039221	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:71039221C>T	uc003xyn.1	-	19	3905	c.3743G>A	c.(3742-3744)CGA>CAA	p.R1248Q	NCOA2_uc011lfb.1_Missense_Mutation_p.R336Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1248					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)			TTGTCTCTGTCGAAGATGCTG	0.493			T	RUNXBP2	AML							
ZFHX4	79776	broad.mit.edu	37	8	77763422	77763422	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:77763422G>A	uc003yav.2	+	10	4517	c.4130G>A	c.(4129-4131)CGG>CAG	p.R1377Q	ZFHX4_uc003yau.1_Missense_Mutation_p.R1422Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1377						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)			CATGCAATTCGGGCTGCGACA	0.458										HNSCC(33;0.089)		
LRRCC1	85444	broad.mit.edu	37	8	86050680	86050680	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:86050680C>T	uc003ycw.2	+	17	2964	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V	LRRCC1_uc003ycx.2_Missense_Mutation_p.A844V|LRRCC1_uc003ycy.2_Missense_Mutation_p.A917V	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	937					cell division|mitosis	centriole|nucleus					0						AAACTTAAAGCGGAAAGAGAC	0.333												
OSGIN2	734	broad.mit.edu	37	8	90937188	90937188	+	Missense_Mutation	SNP	G	G	A	rs141987995	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:90937188G>A	uc003yeg.2	+	6	1292	c.946G>A	c.(946-948)GCA>ACA	p.A316T	OSGIN2_uc003yeh.2_Missense_Mutation_p.A360T	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	316					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCCGCTGACGCAGTACTGTG	0.428												
RUNX1T1	862	broad.mit.edu	37	8	93029468	93029468	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:93029468A>G	uc003yfd.2	-	2	296	c.212T>C	c.(211-213)TTT>TCT	p.F71S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.F44S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.F34S|RUNX1T1_uc010mao.2_Missense_Mutation_p.F44S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.F82S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yff.1_Missense_Mutation_p.F34S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.F34S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	71					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTCGGTGTAAATGAACTGGT	0.398												
KCNS2	3788	broad.mit.edu	37	8	99440939	99440939	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:99440939C>A	uc003yin.2	+	2	1082	c.732C>A	c.(730-732)GCC>GCA	p.A244A		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	244	Helical; Name=Segment S2; (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)			AGCTGGTGGCCAGGTTTGCTG	0.517												
VPS13B	157680	broad.mit.edu	37	8	100520072	100520072	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:100520072G>A	uc003yiv.2	+	28	4343	c.4232G>A	c.(4231-4233)CGC>CAC	p.R1411H	VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Missense_Mutation_p.R881H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1411					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGAACAGACGCACCTTGTTG	0.458												
VPS13B	157680	broad.mit.edu	37	8	100847902	100847902	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:100847902A>G	uc003yiv.2	+	54	10064	c.9953A>G	c.(9952-9954)GAA>GGA	p.E3318G	VPS13B_uc003yiw.2_Missense_Mutation_p.E3293G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3318					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAGAGTTGAACCTCTAGAT	0.463												
RGS22	26166	broad.mit.edu	37	8	101075932	101075932	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101075932T>A	uc003yjb.1	-	8	1259	c.1064A>T	c.(1063-1065)GAT>GTT	p.D355V	RGS22_uc003yja.1_Missense_Mutation_p.D174V|RGS22_uc003yjc.1_Missense_Mutation_p.D343V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	355					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCAAAACAATCATCAAATGA	0.323												
RGS22	26166	broad.mit.edu	37	8	101078439	101078439	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101078439A>G	uc003yjb.1	-	7	875	c.680T>C	c.(679-681)GTA>GCA	p.V227A	RGS22_uc003yja.1_Missense_Mutation_p.V46A|RGS22_uc003yjc.1_Missense_Mutation_p.V215A|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	227					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTTGTAGGGTACACAACAGGG	0.368												
SPAG1	6674	broad.mit.edu	37	8	101253220	101253220	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:101253220A>G	uc003yjh.1	+	19	2837	c.2751A>G	c.(2749-2751)ATA>ATG	p.I917M	SPAG1_uc003yji.1_Missense_Mutation_p.I917M	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	917					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TAGAAGATATACAGGCCCTAA	0.368												
UBR5	51366	broad.mit.edu	37	8	103287986	103287986	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:103287986C>T	uc003ykr.1	-	46	6613	c.6580G>A	c.(6580-6582)GAA>AAA	p.E2194K	UBR5_uc003yks.1_Missense_Mutation_p.E2194K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2194					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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;0.000442)			CCGAACAGTTCTAAAGAAAGG	0.448												
FZD6	8323	broad.mit.edu	37	8	104343682	104343682	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:104343682A>G	uc003ylh.2	+	7	2350	c.2066A>G	c.(2065-2067)CAC>CGC	p.H689R	FZD6_uc003ylj.2_Missense_Mutation_p.H689R|FZD6_uc011lhn.1_Missense_Mutation_p.H655R|FZD6_uc011lho.1_Missense_Mutation_p.H384R|FZD6_uc011lhp.1_Missense_Mutation_p.H634R	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	689	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTGCTTGTTCACCCGGTTTCA	0.458												
ABRA	137735	broad.mit.edu	37	8	107781945	107781945	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:107781945C>T	uc003ymm.3	-	1	528	c.474G>A	c.(472-474)ACG>ACA	p.T158T		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	158					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCTCCTCCGCGTTGGGGAGC	0.582												
SYBU	55638	broad.mit.edu	37	8	110590145	110590145	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:110590145C>A	uc003ynj.3	-	6	999	c.836G>T	c.(835-837)AGA>ATA	p.R279I	SYBU_uc003yni.3_Missense_Mutation_p.R276I|SYBU_uc003ynk.3_Missense_Mutation_p.R160I|SYBU_uc010mco.2_Missense_Mutation_p.R278I|SYBU_uc003ynl.3_Missense_Mutation_p.R278I|SYBU_uc010mcp.2_Missense_Mutation_p.R279I|SYBU_uc010mcq.2_Missense_Mutation_p.R279I|SYBU_uc003yno.3_Missense_Mutation_p.R160I|SYBU_uc010mcr.2_Missense_Mutation_p.R279I|SYBU_uc003ynm.3_Missense_Mutation_p.R278I|SYBU_uc003ynn.3_Missense_Mutation_p.R278I|SYBU_uc010mcs.2_Missense_Mutation_p.R160I|SYBU_uc010mct.2_Missense_Mutation_p.R279I|SYBU_uc010mcu.2_Missense_Mutation_p.R278I|SYBU_uc003ynp.3_Missense_Mutation_p.R211I|SYBU_uc010mcv.2_Missense_Mutation_p.R279I|SYBU_uc003ynh.3_Missense_Mutation_p.R73I|SYBU_uc011lhw.1_Missense_Mutation_p.R149I	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	279	Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTTGAGGTGTCTCACTGTCAC	0.498												
CSMD3	114788	broad.mit.edu	37	8	113243835	113243835	+	Silent	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:113243835A>C	uc003ynu.2	-	69	10926	c.10767T>G	c.(10765-10767)ACT>ACG	p.T3589T	CSMD3_uc003yns.2_Silent_p.T2791T|CSMD3_uc003ynt.2_Silent_p.T3549T|CSMD3_uc011lhx.1_Silent_p.T3420T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3589	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAAATACATAAGTAGCTCCAT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116426263	116426263	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116426263T>C	uc003ynz.2	-	6	4293	c.3834A>G	c.(3832-3834)AAA>AAG	p.K1278K	TRPS1_uc011lhy.1_Silent_p.K1282K|TRPS1_uc003yny.2_Silent_p.K1291K|TRPS1_uc010mcy.2_Silent_p.K1278K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1278	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACTCTTTAGGTTTTCCATTTT	0.368									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116426653	116426653	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116426653A>G	uc003ynz.2	-	6	3903	c.3444T>C	c.(3442-3444)AAT>AAC	p.N1148N	TRPS1_uc011lhy.1_Silent_p.N1152N|TRPS1_uc003yny.2_Silent_p.N1161N|TRPS1_uc010mcy.2_Silent_p.N1148N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1148	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGAGGCAGATTGAAGGTGG	0.488									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116616779	116616779	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:116616779C>T	uc003ynz.2	-	3	1837	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R	TRPS1_uc011lhy.1_Missense_Mutation_p.G464R|TRPS1_uc003yny.2_Missense_Mutation_p.G473R|TRPS1_uc010mcy.2_Missense_Mutation_p.G460R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	460					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCACTGCTCCGTGCTGCTTG	0.443									Langer-Giedion_syndrome			
RAD21	5885	broad.mit.edu	37	8	117868492	117868492	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:117868492C>T	uc003yod.2	-	8	1138	c.850G>A	c.(850-852)GTT>ATT	p.V284I		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	284					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATTGGTTCAACGGGATCCACT	0.363												
TAF2	6873	broad.mit.edu	37	8	120744180	120744180	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:120744180G>T	uc003you.2	-	26	3854	c.3584C>A	c.(3583-3585)CCT>CAT	p.P1195H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	1195					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAAAGGGAAGGAGAACGAAT	0.418												
ATAD2	29028	broad.mit.edu	37	8	124358423	124358423	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:124358423G>T	uc003yqh.3	-	18	2543	c.2435C>A	c.(2434-2436)GCT>GAT	p.A812D	ATAD2_uc011lii.1_Missense_Mutation_p.A603D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A812D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGAATGACAGCTGGTGCCAA	0.398												
KIAA0196	9897	broad.mit.edu	37	8	126044600	126044600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:126044600C>T	uc003yrt.2	-	27	3547	c.3218G>A	c.(3217-3219)TGG>TAG	p.W1073*	KIAA0196_uc011lir.1_Nonsense_Mutation_p.W925*|KIAA0196_uc003yru.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1073					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGTGGTGGCCAATCAACCGG	0.522												
ZFAT	57623	broad.mit.edu	37	8	135614707	135614707	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:135614707G>A	uc003yup.2	-	6	1430	c.1255C>T	c.(1255-1257)CGT>TGT	p.R419C	ZFAT_uc003yun.2_Missense_Mutation_p.R407C|ZFAT_uc003yuo.2_Missense_Mutation_p.R407C|ZFAT_uc010meh.2_Missense_Mutation_p.R407C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R407C|ZFAT_uc010mej.2_Missense_Mutation_p.R357C|ZFAT_uc003yur.2_Missense_Mutation_p.R407C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	419	C2H2-type 7.				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)			TGGCGGTCACGGTCCAGCTCG	0.597												
FAM135B	51059	broad.mit.edu	37	8	139164159	139164159	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139164159C>A	uc003yuy.2	-	13	2730	c.2559G>T	c.(2557-2559)AAG>AAT	p.K853N	FAM135B_uc003yux.2_Missense_Mutation_p.K754N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K415N|FAM135B_uc003yvb.2_Missense_Mutation_p.K415N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	853										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCAAACTGCTTCCCTTTCC	0.488										HNSCC(54;0.14)		
FAM135B	51059	broad.mit.edu	37	8	139255234	139255234	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139255234A>C	uc003yuy.2	-	7	791	c.620T>G	c.(619-621)CTG>CGG	p.L207R	FAM135B_uc003yux.2_Missense_Mutation_p.L108R|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	207										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGTTTTCCAGAGAAATGAT	0.463										HNSCC(54;0.14)		
COL22A1	169044	broad.mit.edu	37	8	139691881	139691881	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:139691881T>C	uc003yvd.2	-	40	3498	c.3051A>G	c.(3049-3051)GCA>GCG	p.A1017A	COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1017	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCTCCCAGTGCACAGTTTT	0.343										HNSCC(7;0.00092)		
KCNK9	51305	broad.mit.edu	37	8	140630896	140630896	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:140630896G>T	uc003yvf.1	-	2	794	c.730C>A	c.(730-732)CTC>ATC	p.L244I	KCNK9_uc003yvg.1_Missense_Mutation_p.L244I|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	244	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)			AAGAACCTGAGGACGACCAGG	0.572												
PTK2	5747	broad.mit.edu	37	8	141712786	141712786	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:141712786T>C	uc003yvu.2	-	25	2480	c.2250A>G	c.(2248-2250)TCA>TCG	p.S750S	PTK2_uc011ljp.1_Silent_p.S58S|PTK2_uc003yvo.2_Silent_p.S378S|PTK2_uc011ljq.1_Silent_p.S445S|PTK2_uc003yvp.2_Silent_p.S418S|PTK2_uc003yvq.2_Silent_p.S276S|PTK2_uc003yvr.2_Silent_p.S690S|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Silent_p.S772S|PTK2_uc003yvv.2_Silent_p.S650S|PTK2_uc011ljr.1_Silent_p.S750S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	750	Interaction with TGFB1I1.				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)			TGATTCCATGTGAACCAGGGT	0.443												
PTK2	5747	broad.mit.edu	37	8	141828420	141828420	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:141828420C>A	uc003yvu.2	-	10	1053	c.823G>T	c.(823-825)GGC>TGC	p.G275C	PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.G174C|PTK2_uc003yvs.2_Missense_Mutation_p.G275C|PTK2_uc003yvt.2_Missense_Mutation_p.G297C|PTK2_uc003yvv.2_Missense_Mutation_p.G162C|PTK2_uc011ljr.1_Missense_Mutation_p.G275C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	275	FERM.				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)			TCTTCTGGGCCGATTGCCAGT	0.418												
TOP1MT	116447	broad.mit.edu	37	8	144406219	144406219	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144406219G>A	uc003yxz.2	-	7	929	c.910C>T	c.(910-912)CGG>TGG	p.R304W	TOP1MT_uc011lkd.1_Missense_Mutation_p.R206W|TOP1MT_uc011lke.1_Missense_Mutation_p.R206W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R206W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R99W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R99W	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	304					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCATTTCCCGAGACTTCCAG	0.582												
ZC3H3	23144	broad.mit.edu	37	8	144590009	144590009	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144590009C>T	uc003yyd.2	-	4	1651	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	541					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGACAATGCGGTAGCGGGT	0.647												
ZC3H3	23144	broad.mit.edu	37	8	144590012	144590012	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:144590012T>C	uc003yyd.2	-	4	1648	c.1619A>G	c.(1618-1620)TAC>TGC	p.Y540C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	540					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACAATGCGGTAGCGGGTCTT	0.657												
RECQL4	9401	broad.mit.edu	37	8	145740422	145740422	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:145740422G>A	uc003zdj.2	-	9	1550	c.1518C>T	c.(1516-1518)GCC>GCT	p.A506A	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	506	Helicase ATP-binding.|ATP (Potential).				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGACTTGCCGGCACCTGTAG	0.667			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
PTPRD	5789	broad.mit.edu	37	9	8465638	8465638	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8465638C>T	uc003zkk.2	-	31	4253	c.3542G>A	c.(3541-3543)CGT>CAT	p.R1181H	PTPRD_uc003zkp.2_Missense_Mutation_p.R770H|PTPRD_uc003zkq.2_Missense_Mutation_p.R770H|PTPRD_uc003zkr.2_Missense_Mutation_p.R765H|PTPRD_uc003zks.2_Missense_Mutation_p.R760H|PTPRD_uc003zkl.2_Missense_Mutation_p.R1172H|PTPRD_uc003zkm.2_Missense_Mutation_p.R1168H|PTPRD_uc003zkn.2_Missense_Mutation_p.R770H|PTPRD_uc003zko.2_Missense_Mutation_p.R767H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1181	Extracellular (Potential).	Cleavage (Probable).		R->A: No reduction in cleavage. 10-fold reduction in cleavage; when associated with A-1178.	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCCCATAACGGATGCTTCT	0.403										TSP Lung(15;0.13)		
PTPRD	5789	broad.mit.edu	37	9	8485893	8485893	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8485893G>A	uc003zkk.2	-	27	3635	c.2924C>T	c.(2923-2925)GCT>GTT	p.A975V	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.A966V|PTPRD_uc003zkm.2_Missense_Mutation_p.A962V|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	975	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGTGTCAGCTGGAACAAT	0.478										TSP Lung(15;0.13)		
PTPRD	5789	broad.mit.edu	37	9	8525005	8525005	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:8525005G>A	uc003zkk.2	-	17	1310	c.599C>T	c.(598-600)TCT>TTT	p.S200F	PTPRD_uc003zkp.2_Missense_Mutation_p.S200F|PTPRD_uc003zkq.2_Missense_Mutation_p.S200F|PTPRD_uc003zkr.2_Missense_Mutation_p.S194F|PTPRD_uc003zks.2_Missense_Mutation_p.S194F|PTPRD_uc003zkl.2_Missense_Mutation_p.S200F|PTPRD_uc003zkm.2_Missense_Mutation_p.S191F|PTPRD_uc003zkn.2_Missense_Mutation_p.S200F|PTPRD_uc003zko.2_Missense_Mutation_p.S197F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	200	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCTTGGTCAGACTCTTCACT	0.338										TSP Lung(15;0.13)		
MPDZ	8777	broad.mit.edu	37	9	13107093	13107093	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:13107093G>A	uc010mhy.2	-	45	6048	c.5997C>T	c.(5995-5997)GAC>GAT	p.D1999D	MPDZ_uc003zkx.3_Silent_p.D223D|MPDZ_uc003zky.3_Silent_p.D562D|MPDZ_uc010mib.2_Silent_p.D733D|MPDZ_uc010mhx.2_Silent_p.D850D|MPDZ_uc011lmm.1_Silent_p.D887D|MPDZ_uc003zkz.3_Silent_p.D721D|MPDZ_uc010mhz.2_Silent_p.D1995D|MPDZ_uc011lmn.1_Silent_p.D1966D|MPDZ_uc003zlb.3_Silent_p.D1999D	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2028	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCAGACGTCCGTCTTCAGAGG	0.438												
MLLT3	4300	broad.mit.edu	37	9	20346569	20346569	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:20346569C>T	uc003zoe.2	-	11	1838	c.1579G>A	c.(1579-1581)GTG>ATG	p.V527M	MLLT3_uc011lne.1_Missense_Mutation_p.V495M|MLLT3_uc011lnf.1_Missense_Mutation_p.V524M	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATAAGGTTCACGATCTAGAGG	0.408			T	MLL	ALL							
IFNA16	3449	broad.mit.edu	37	9	21216926	21216926	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:21216926C>A	uc003zor.1	-	1	385	c.379G>T	c.(379-381)GTT>TTT	p.V127F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	127					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCACCCCAACCTCCTGTGTC	0.448												
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:27157925G>A	uc003zqi.3	+	2	591	c.149G>A	c.(148-150)CGC>CAC	p.R50H	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.1_Missense_Mutation_p.R50H|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	50	Extracellular (Potential).|Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGGGTGGCGCCCCCATGAG	0.502												
LINGO2	158038	broad.mit.edu	37	9	27950565	27950565	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:27950565A>G	uc003zqu.1	-	2	299	c.105T>C	c.(103-105)TCT>TCC	p.S35S	LINGO2_uc010mjf.1_Silent_p.S35S|LINGO2_uc003zqv.1_Silent_p.S35S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	35	LRRNT.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTCTGGGCAGAGCACTCAC	0.527												
ACO1	48	broad.mit.edu	37	9	32431807	32431807	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:32431807C>T	uc003zqw.3	+	15	1972	c.1817C>T	c.(1816-1818)CCG>CTG	p.P606L	ACO1_uc010mjh.1_Missense_Mutation_p.P440L|ACO1_uc003zqx.3_Missense_Mutation_p.P606L|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	606					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATGTCATCCCGGGGATGTTT	0.517											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UNC13B	10497	broad.mit.edu	37	9	35396839	35396839	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35396839T>C	uc003zwq.2	+	27	3482	c.3190T>C	c.(3190-3192)TGG>CGG	p.W1064R	UNC13B_uc003zwr.2_Missense_Mutation_p.W1064R	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1064	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTGCAGGTGGTTTGAGCA	0.562												
NPR2	4882	broad.mit.edu	37	9	35800819	35800819	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35800819C>T	uc003zyd.2	+	6	1332	c.1332C>T	c.(1330-1332)GAC>GAT	p.D444D	NPR2_uc010mlb.2_Silent_p.D444D	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	444	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTGACTTGGACGACCCATCCT	0.587												
CCIN	881	broad.mit.edu	37	9	36169823	36169823	+	Silent	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:36169823T>G	uc003zzb.3	+	1	435	c.324T>G	c.(322-324)GCT>GCG	p.A108A		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	108	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			TTCGTGGGGCTCAGTATTTCA	0.532												
PTAR1	375743	broad.mit.edu	37	9	72347172	72347172	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:72347172T>C	uc004ahj.3	-	5	547	c.525A>G	c.(523-525)CGA>CGG	p.R175R	PTAR1_uc004ahi.2_Silent_p.R96R	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	175					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						CTTGTATGAGTCGCTGTGCCC	0.493												
ZCCHC6	79670	broad.mit.edu	37	9	88967932	88967932	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:88967932A>T	uc004aoq.2	-	2	398	c.183T>A	c.(181-183)TAT>TAA	p.Y61*	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aou.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aov.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc004aow.2_Nonsense_Mutation_p.Y61*|ZCCHC6_uc010mqf.1_Nonsense_Mutation_p.Y61*	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	61					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGGTATTCCCATAGTTCCCTG	0.418												
SHC3	53358	broad.mit.edu	37	9	91652990	91652990	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:91652990G>T	uc004aqg.2	-	11	1881	c.1574C>A	c.(1573-1575)ACC>AAC	p.T525N		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	525	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						CGGGTTGGTGGTGCTCTTCCT	0.617												
IARS	3376	broad.mit.edu	37	9	95022511	95022511	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95022511C>T	uc004art.1	-	18	2050	c.1793G>A	c.(1792-1794)GGC>GAC	p.G598D	IARS_uc004ars.1_Missense_Mutation_p.G443D|IARS_uc004aru.3_Missense_Mutation_p.G598D|IARS_uc010mqr.2_Missense_Mutation_p.G488D|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	598					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CATTTTTTGGCCATCACTTGT	0.373												
FGD3	89846	broad.mit.edu	37	9	95796864	95796864	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95796864C>T	uc004asw.2	+	17	2455	c.1827C>T	c.(1825-1827)GGC>GGT	p.G609G	FGD3_uc004asx.2_Silent_p.G608G|FGD3_uc004asz.2_Silent_p.G609G|FGD3_uc011luc.1_Silent_p.G212G	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	609	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TGCTCTGCGGCCCCCTGCGGC	0.662												
FGD3	89846	broad.mit.edu	37	9	95797867	95797867	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:95797867C>T	uc004asw.2	+	18	2802	c.2174C>T	c.(2173-2175)CCG>CTG	p.P725L	FGD3_uc004asx.2_Missense_Mutation_p.P724L|FGD3_uc004asz.2_Missense_Mutation_p.P725L|FGD3_uc011luc.1_Missense_Mutation_p.P328L	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	725					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GCAGCTGCTCCGTGAGCTGAG	0.657												
FBP1	2203	broad.mit.edu	37	9	97369155	97369155	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:97369155T>C	uc004auw.3	-	5	978	c.647A>G	c.(646-648)TAC>TGC	p.Y216C	FBP1_uc010mrl.2_Missense_Mutation_p.Y216C	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	216	Substrate binding.				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GTCCCTGGCGTAGCCCTCGTT	0.512												
PTCH1	5727	broad.mit.edu	37	9	98239102	98239102	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:98239102T>C	uc004avk.3	-	11	1729	c.1541A>G	c.(1540-1542)GAT>GGT	p.D514G	PTCH1_uc010mro.2_Missense_Mutation_p.D363G|PTCH1_uc010mrp.2_Missense_Mutation_p.D363G|PTCH1_uc010mrq.2_Missense_Mutation_p.D363G|PTCH1_uc004avl.3_Missense_Mutation_p.D363G|PTCH1_uc010mrr.2_Missense_Mutation_p.D448G|PTCH1_uc004avm.3_Missense_Mutation_p.D513G|PTCH1_uc010mrs.1_Missense_Mutation_p.D182G	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	514	SSD.|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)				AAGAAAAACATCATCCACACC	0.423									Basal_Cell_Nevus_syndrome			
C9orf21	195827	broad.mit.edu	37	9	99404101	99404101	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:99404101T>C	uc004awm.2	-	6	657	c.621A>G	c.(619-621)TTA>TTG	p.L207L		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	hypothetical protein LOC195827	207							antioxidant activity|oxidoreductase activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CTACAAGCTGTAAAACAGAGT	0.393												
KIAA1529	57653	broad.mit.edu	37	9	100136907	100136907	+	Missense_Mutation	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100136907A>C	uc011lut.1	+	47	6005	c.5232A>C	c.(5230-5232)AAA>AAC	p.K1744N	KIAA1529_uc004axe.1_Missense_Mutation_p.K1550N|KIAA1529_uc004axg.1_Missense_Mutation_p.K1605N|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.K698N	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGAGTGAGAAACCCCTGATTG	0.428												
C9orf156	51531	broad.mit.edu	37	9	100672422	100672422	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100672422C>T	uc004axv.1	-	4	963	c.886G>A	c.(886-888)GCA>ACA	p.A296T	C9orf156_uc004axw.1_Missense_Mutation_p.A193T|C9orf156_uc004axx.1_Missense_Mutation_p.A150T|C9orf156_uc010msq.1_Missense_Mutation_p.A193T	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	296					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				TGCAAGACTGCTGCTCCTTCC	0.562												
CORO2A	7464	broad.mit.edu	37	9	100899955	100899955	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:100899955G>A	uc004ayl.2	-	3	483	c.217C>T	c.(217-219)CCC>TCC	p.P73S	CORO2A_uc004aym.2_Missense_Mutation_p.P73S	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	73					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GGGTAGTGGGGGTCCAACTTC	0.517												
INVS	27130	broad.mit.edu	37	9	102988442	102988442	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:102988442C>T	uc004bap.1	+	4	584	c.372C>T	c.(370-372)CAC>CAT	p.H124H	INVS_uc010mta.1_Silent_p.H28H|INVS_uc011lve.1_Silent_p.H28H|INVS_uc004bao.1_Silent_p.H124H|INVS_uc004baq.1_Silent_p.H28H|INVS_uc004bar.1_Silent_p.H28H|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	124	ANK 4.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				CCACCCGGCACAGGAGCCCTA	0.438												
INVS	27130	broad.mit.edu	37	9	102988444	102988444	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:102988444G>T	uc004bap.1	+	4	586	c.374G>T	c.(373-375)AGG>ATG	p.R125M	INVS_uc010mta.1_Missense_Mutation_p.R29M|INVS_uc011lve.1_Missense_Mutation_p.R29M|INVS_uc004bao.1_Missense_Mutation_p.R125M|INVS_uc004baq.1_Missense_Mutation_p.R29M|INVS_uc004bar.1_Missense_Mutation_p.R29M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	125	ANK 4.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				ACCCGGCACAGGAGCCCTAAG	0.433												
TEX10	54881	broad.mit.edu	37	9	103111628	103111628	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:103111628T>C	uc004bas.2	-	2	233	c.18A>G	c.(16-18)AAA>AAG	p.K6K	TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Silent_p.K9K|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Silent_p.K6K	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	6						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CATGTTGGCGTTTTCTTTTTT	0.284												
BAAT	570	broad.mit.edu	37	9	104124938	104124938	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:104124938C>A	uc010mtd.2	-	4	1138	c.1029G>T	c.(1027-1029)CAG>CAT	p.Q343H	BAAT_uc004bbd.3_Missense_Mutation_p.Q343H	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	343					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCTCTTCAGCTGTCCTATGG	0.502												
OR13C8	138802	broad.mit.edu	37	9	107331882	107331882	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107331882C>T	uc011lvo.1	+	1	434	c.434C>T	c.(433-435)GCA>GTA	p.A145V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTGGCCATGGCAGCTGGGTCC	0.502												
ABCA1	19	broad.mit.edu	37	9	107550741	107550741	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107550741A>G	uc004bcl.2	-	45	6348	c.6035T>C	c.(6034-6036)CTT>CCT	p.L2012P	NIPSNAP3B_uc004bcj.1_RNA	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2012	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCTCTCAAAAGGGCAAAGAA	0.483												
KIAA0368	23392	broad.mit.edu	37	9	114199319	114199319	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114199319G>A	uc004bfe.1	-	8	1143	c.1143C>T	c.(1141-1143)GGC>GGT	p.G381G	KIAA0368_uc010muc.1_Silent_p.G203G	NM_001080398	NP_001073867			KIAA0368 protein												0						CAGAACCTCCGCCACTGTTTG	0.453												
ZNF483	158399	broad.mit.edu	37	9	114296627	114296627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114296627C>T	uc004bff.2	+	5	939	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ZNF483_uc011lwq.1_Nonsense_Mutation_p.R239*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.R239*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	239	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAAAAGCTCCCGACTAGGTGA	0.378												
FKBP15	23307	broad.mit.edu	37	9	115945145	115945145	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:115945145A>G	uc004bgs.2	-	19	1933	c.1815T>C	c.(1813-1815)TAT>TAC	p.Y605Y	FKBP15_uc010muu.1_Silent_p.Y669Y|FKBP15_uc004bgr.2_Silent_p.Y52Y|FKBP15_uc011lxc.1_Silent_p.Y186Y|FKBP15_uc011lxd.1_Silent_p.Y537Y|FKBP15_uc010mut.1_Silent_p.Y473Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	605	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						TCTGCTCAACATACCTGTGAA	0.438												
KIF12	113220	broad.mit.edu	37	9	116857359	116857359	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:116857359T>C	uc004bif.2	-	8	887	c.649A>G	c.(649-651)ACC>GCC	p.T217A	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	350					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TATCGCAGGGTGCTGAGAGTC	0.652												
RBM18	92400	broad.mit.edu	37	9	125007550	125007550	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125007550G>A	uc004bma.2	-	5	564	c.398C>T	c.(397-399)ACT>ATT	p.T133I	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	133							nucleotide binding|RNA binding				0						GTTAGACTGAGTAGGCTCAGT	0.358												
OR1L6	392390	broad.mit.edu	37	9	125512246	125512246	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125512246G>A	uc011lzc.1	+	1	228	c.228G>A	c.(226-228)GCG>GCA	p.A76A		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	76	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCTCGCTGCGGTGGGGAATG	0.537												
RC3H2	54542	broad.mit.edu	37	9	125659721	125659721	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:125659721T>G	uc010mwc.1	-	2	309	c.68A>C	c.(67-69)GAG>GCG	p.E23A	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E23A|RC3H2_uc004bne.3_Missense_Mutation_p.E23A|RC3H2_uc011lzg.1_Missense_Mutation_p.E23A|RC3H2_uc004bng.1_Missense_Mutation_p.E23A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	23	RING-type; degenerate.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTGCACATTCTCATCAAATTC	0.448												
RALGPS1	9649	broad.mit.edu	37	9	129974417	129974417	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:129974417G>A	uc004bqo.1	+	15	1522	c.1255G>A	c.(1255-1257)GGC>AGC	p.G419S	RALGPS1_uc011mac.1_Missense_Mutation_p.G377S|RALGPS1_uc004bqq.3_Missense_Mutation_p.G377S	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	419					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CAGCCCCACCGGCCCGTGCAT	0.622												
C9orf117	286207	broad.mit.edu	37	9	130473600	130473600	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130473600C>T	uc004brn.1	+	4	720	c.680C>T	c.(679-681)GCC>GTC	p.A227V	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	227											0						ACCAAGCGGGCCATCAAAGAG	0.562												
ST6GALNAC6	30815	broad.mit.edu	37	9	130652960	130652960	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130652960C>T	uc004bso.1	-	5	779	c.660G>A	c.(658-660)ATG>ATA	p.M220I	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.M186I|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.M220I|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.M186I|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.M186I|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	220	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CAAATTGCCGCATGCGGCCGG	0.642												
PIP5KL1	138429	broad.mit.edu	37	9	130687433	130687433	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:130687433G>A	uc011mao.1	-	9	915	c.870C>T	c.(868-870)CAC>CAT	p.H290H	PIP5KL1_uc004bsu.2_Silent_p.H87H	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	290	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						TCTCATCCTCGTGGAGACGTT	0.607												
GOLGA2	2801	broad.mit.edu	37	9	131023773	131023773	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131023773C>A	uc011maw.1	-	15	1224	c.1211G>T	c.(1210-1212)AGC>ATC	p.S404I	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.S305I|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	404	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CCACATGGCGCTCTCTCCTTT	0.433												
SPTAN1	6709	broad.mit.edu	37	9	131388889	131388889	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131388889G>A	uc004bvl.3	+	48	6597	c.6484G>A	c.(6484-6486)GTA>ATA	p.V2162I	SPTAN1_uc004bvm.3_Missense_Mutation_p.V2167I|SPTAN1_uc004bvn.3_Missense_Mutation_p.V2142I|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2162	Spectrin 22.				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						GAGCTTCCGCGTAGCCTCCAA	0.617												
ZER1	10444	broad.mit.edu	37	9	131503844	131503844	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:131503844G>A	uc004bwa.1	-	11	2140	c.1707C>T	c.(1705-1707)AAC>AAT	p.N569N		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	569	ARM 3.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GCTTCATGCCGTTGAAATTGA	0.562												
FUBP3	8939	broad.mit.edu	37	9	133470916	133470916	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:133470916C>A	uc004bzr.1	+	2	239	c.131C>A	c.(130-132)CCT>CAT	p.P44H	FUBP3_uc010mzd.1_5'UTR|FUBP3_uc004bzs.1_Intron	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	44					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)		AATTCCACACCTCTAGTGGAC	0.413												
NUP214	8021	broad.mit.edu	37	9	134073173	134073173	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:134073173C>T	uc004cag.2	+	29	4403	c.4292C>T	c.(4291-4293)TCT>TTT	p.S1431F	NUP214_uc004cah.2_Missense_Mutation_p.S1421F|NUP214_uc004cai.2_Missense_Mutation_p.S861F|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S257F|NUP214_uc011mcf.1_Missense_Mutation_p.S208F|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1431	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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)		GGTGGGACATCTCTAAGTGCT	0.547			T	DEK|SET|ABL1	AML|T-ALL							
POMT1	10585	broad.mit.edu	37	9	134394318	134394318	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:134394318A>G	uc004cav.2	+	15	1728	c.1526A>G	c.(1525-1527)AAC>AGC	p.N509S	POMT1_uc004cax.2_Missense_Mutation_p.N487S|POMT1_uc011mcj.1_Missense_Mutation_p.N265S|POMT1_uc004cau.2_Missense_Mutation_p.N487S|POMT1_uc004caw.2_Missense_Mutation_p.N433S|POMT1_uc011mck.1_Missense_Mutation_p.N370S|POMT1_uc011mcl.1_Missense_Mutation_p.N335S|POMT1_uc011mcm.1_Missense_Mutation_p.N457S|POMT1_uc011mcn.1_3'UTR	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	509	MIR 3.				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)		ACGGTGTGGAACGTGGAGGAG	0.627												
SETX	23064	broad.mit.edu	37	9	135202796	135202796	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:135202796T>C	uc004cbk.2	-	10	4372	c.4189A>G	c.(4189-4191)AAT>GAT	p.N1397D	SETX_uc004cbj.2_Missense_Mutation_p.N1016D|SETX_uc010mzt.2_Missense_Mutation_p.N1016D	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1397					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTGTACAATTATAATCTGAC	0.373												
TSC1	7248	broad.mit.edu	37	9	135771689	135771689	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:135771689G>A	uc004cca.2	-	23	3662	c.3428C>T	c.(3427-3429)CCG>CTG	p.P1143L	TSC1_uc004ccb.3_Missense_Mutation_p.P1142L|TSC1_uc011mcq.1_Missense_Mutation_p.P1092L|TSC1_uc011mcr.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1143					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCCGGGGTCGGGGGAGACGG	0.493			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
SURF2	6835	broad.mit.edu	37	9	136226847	136226847	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:136226847G>A	uc004cdi.2	+	4	407	c.359G>A	c.(358-360)GGG>GAG	p.G120E		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	120							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CAGAAGCAAGGGGTGGAGTAC	0.637												
SNAPC4	6621	broad.mit.edu	37	9	139272334	139272334	+	Silent	SNP	G	G	A	rs142001603	byFrequency	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139272334G>A	uc004chh.2	-	21	3954	c.3945C>T	c.(3943-3945)TCC>TCT	p.S1315S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1315	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTAGGAGACCGGACAGAGCTC	0.697												
NOTCH1	4851	broad.mit.edu	37	9	139407497	139407497	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139407497A>G	uc004chz.2	-	15	2443	c.2443T>C	c.(2443-2445)TGC>CGC	p.C815R	NOTCH1_uc004cia.1_Missense_Mutation_p.C45R	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	815	Extracellular (Potential).|EGF-like 21; calcium-binding (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.G812fs*59(1)|p.G812fs*58(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)		AGGCAGTTGCACTTGTACCCG	0.642			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf86	55684	broad.mit.edu	37	9	139726231	139726231	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139726231G>A	uc004cji.1	+	6	785	c.517G>A	c.(517-519)GTG>ATG	p.V173M	C9orf86_uc004cjm.2_Missense_Mutation_p.V173M|C9orf86_uc004cjh.2_Missense_Mutation_p.V173M|C9orf86_uc004cjj.1_Missense_Mutation_p.V173M|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.V173M|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.V58M	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	173	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GCCAGTGTGCGTGCTGGGAAA	0.607												
GYG2	8908	broad.mit.edu	37	X	2795350	2795350	+	Splice_Site	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:2795350T>C	uc004cqs.1	+	11	1626	c.1344_splice	c.e11+2	p.E448_splice	GYG2_uc004cqt.1_Splice_Site_p.E417_splice|GYG2_uc004cqu.1_Splice_Site_p.E416_splice|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Splice_Site_p.E408_splice|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	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)				GCACTGGAGGTGGTATCCAAA	0.542												
SHROOM2	357	broad.mit.edu	37	X	9912766	9912766	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:9912766C>T	uc004csu.1	+	9	4487	c.4397C>T	c.(4396-4398)ACC>ATC	p.T1466I	SHROOM2_uc004csv.2_Missense_Mutation_p.T300I|SHROOM2_uc011mic.1_Missense_Mutation_p.T301I|SHROOM2_uc004csw.1_Missense_Mutation_p.T301I	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CAGGCCAACACCGTGCTGGGG	0.632												
WWC3	55841	broad.mit.edu	37	X	10077957	10077957	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:10077957C>T	uc004csx.3	+	9	1069	c.871C>T	c.(871-873)CGC>TGC	p.R291C	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	291	Potential.									ovary(4)	4						CATTGCACAGCGCCGCTCTGC	0.687												
CLCN4	1183	broad.mit.edu	37	X	10201604	10201604	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:10201604G>A	uc004csy.3	+	13	2693	c.2263G>A	c.(2263-2265)GAA>AAA	p.E755K	CLCN4_uc011mid.1_Missense_Mutation_p.E661K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	755	CBS 2.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGACCCCGAATCCATCAT	0.368												
MSL3	10943	broad.mit.edu	37	X	11783634	11783634	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:11783634G>A	uc004cuw.2	+	9	1062	c.957G>A	c.(955-957)ACG>ACA	p.T319T	MSL3_uc004cuv.1_Silent_p.T319T|MSL3_uc004cux.2_Silent_p.T260T|MSL3_uc011mig.1_Silent_p.T170T|MSL3_uc011mih.1_Silent_p.T307T|MSL3_uc004cuy.2_Silent_p.T153T	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	319					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATCCATCCACGCCACAGTCCA	0.577												
FANCB	2187	broad.mit.edu	37	X	14876021	14876021	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:14876021C>T	uc004cwg.1	-	5	1428	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	FANCB_uc004cwh.1_Missense_Mutation_p.R387H	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	387					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					CACCAGGTAACGATTCTCTTG	0.318								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
GRPR	2925	broad.mit.edu	37	X	16170760	16170760	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:16170760T>C	uc004cxj.2	+	3	1800	c.1147T>C	c.(1147-1149)TAT>CAT	p.Y383H		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	383	Cytoplasmic (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TCACGAGCGGTATGTCTAGAT	0.517												
MAGEB3	4114	broad.mit.edu	37	X	30254158	30254158	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:30254158C>A	uc004dca.1	+	5	854	c.117C>A	c.(115-117)TCC>TCA	p.S39S		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	39											0						AAAAAGTATCCTTTTCATCCC	0.502												
FAM47B	170062	broad.mit.edu	37	X	34961414	34961414	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:34961414G>A	uc004ddi.1	+	1	484	c.466G>A	c.(466-468)GAG>AAG	p.E156K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	156										ovary(3)|breast(1)	4						GCTGGATCCCGAGAGGAAGCT	0.567												
BCOR	54880	broad.mit.edu	37	X	39911559	39911559	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:39911559T>C	uc004den.3	-	15	5363	c.5071A>G	c.(5071-5073)ACC>GCC	p.T1691A	BCOR_uc004dep.3_Missense_Mutation_p.T1657A|BCOR_uc004deo.3_Missense_Mutation_p.T1639A|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Missense_Mutation_p.T1657A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1691					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCTGCAATGGTGACAATTTCC	0.448												
DDX3X	1654	broad.mit.edu	37	X	41203054	41203054	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41203054C>T	uc004dfe.2	+	8	1599	c.744C>T	c.(742-744)GGC>GGT	p.G248G	DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	248	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						ATGGTCCAGGCGAGGCTTTGA	0.408										HNSCC(61;0.18)		
DDX3X	1654	broad.mit.edu	37	X	41203302	41203302	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41203302G>A	uc004dfe.2	+	9	1640	c.785G>A	c.(784-786)CGC>CAC	p.R262H	DDX3X_uc010nhf.1_Missense_Mutation_p.R246H|DDX3X_uc004dff.2_Missense_Mutation_p.R262H|DDX3X_uc011mkq.1_Missense_Mutation_p.R246H|DDX3X_uc011mkr.1_Missense_Mutation_p.R262H|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	262	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						AGGTATGGGCGCCGCAAACAA	0.383										HNSCC(61;0.18)		
DDX3X	1654	broad.mit.edu	37	X	41206134	41206134	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:41206134C>T	uc004dfe.2	+	15	2493	c.1638C>T	c.(1636-1638)AAC>AAT	p.N546N	DDX3X_uc004dff.2_Silent_p.N546N|DDX3X_uc011mkq.1_Silent_p.N530N|DDX3X_uc011mkr.1_Silent_p.N416N|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	546	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						CATTCTTTAACGAGAGGAACA	0.358										HNSCC(61;0.18)		
CDK16	5127	broad.mit.edu	37	X	47086419	47086419	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47086419G>T	uc004dho.2	+	12	1558	c.1162G>T	c.(1162-1164)GGC>TGC	p.G388C	CDK16_uc011mli.1_Missense_Mutation_p.G394C|CDK16_uc011mlk.1_Missense_Mutation_p.G388C|CDK16_uc011mll.1_Missense_Mutation_p.G462C	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	388	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GACGTGGCCAGGCATCCTGTC	0.592												
USP11	8237	broad.mit.edu	37	X	47101688	47101688	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47101688C>T	uc004dhp.2	+	10	1516	c.1516C>T	c.(1516-1518)CGC>TGC	p.R506C	USP11_uc004dhq.2_Missense_Mutation_p.R233C	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	506					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CATGGATCCGCGCCGCAAGCC	0.537												
ZNF81	347344	broad.mit.edu	37	X	47774787	47774787	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:47774787C>T	uc010nhy.1	+	6	1110	c.742C>T	c.(742-744)CGT>TGT	p.R248C		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				GTTCTGTGAACGTAATCAATG	0.388												
PPP1R3F	89801	broad.mit.edu	37	X	49137887	49137887	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:49137887G>A	uc004dnh.1	+	2	1039	c.1023G>A	c.(1021-1023)CTG>CTA	p.L341L	PPP1R3F_uc011mnd.1_Silent_p.L13L|PPP1R3F_uc004dni.2_5'UTR|PPP1R3F_uc004dnj.1_5'UTR	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	341	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					AGGAGGAACTGAAGACGAAGA	0.483												
MAGED1	9500	broad.mit.edu	37	X	51639696	51639696	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:51639696G>A	uc004dpm.2	+	4	1040	c.945G>A	c.(943-945)CAG>CAA	p.Q315Q	MAGED1_uc004dpn.2_Silent_p.Q371Q|MAGED1_uc004dpo.2_Silent_p.Q315Q	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	315	Pro-rich.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CAGCCAGGCAGACCCCACCAG	0.617										Multiple Myeloma(10;0.10)		
HUWE1	10075	broad.mit.edu	37	X	53587255	53587255	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53587255C>T	uc004dsp.2	-	56	8032	c.7630G>A	c.(7630-7632)GGG>AGG	p.G2544R	HUWE1_uc004dsn.2_Missense_Mutation_p.G1368R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2544					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TGACTGCGCCCGATGCCCTGG	0.562												
HUWE1	10075	broad.mit.edu	37	X	53589856	53589856	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53589856G>A	uc004dsp.2	-	53	7542	c.7140C>T	c.(7138-7140)GAC>GAT	p.D2380D	HUWE1_uc004dsn.2_Silent_p.D1204D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2380	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCATCAGCACGTCCTCTTGTG	0.547												
HUWE1	10075	broad.mit.edu	37	X	53631775	53631775	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:53631775T>G	uc004dsp.2	-	26	2919	c.2517A>C	c.(2515-2517)AAA>AAC	p.K839N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	839					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTTGAAGGACTTTGGGTTCAT	0.448												
VSIG4	11326	broad.mit.edu	37	X	65242699	65242699	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:65242699C>T	uc004dwh.2	-	7	1073	c.946G>A	c.(946-948)GTC>ATC	p.V316I	VSIG4_uc004dwi.2_Missense_Mutation_p.V222I|VSIG4_uc010nkq.1_Intron|VSIG4_uc004dwj.2_Missense_Mutation_p.V316I|VSIG4_uc011moy.1_Missense_Mutation_p.V222I|VSIG4_uc004dwk.2_Missense_Mutation_p.V316I|VSIG4_uc004dwl.2_Missense_Mutation_p.V212I	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	316	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						GCTTCGTAGACATGCTCTAGA	0.473												
STARD8	9754	broad.mit.edu	37	X	67941416	67941416	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:67941416G>A	uc004dxa.2	+	9	2419	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T	STARD8_uc004dxb.2_Missense_Mutation_p.A763T|STARD8_uc004dxc.3_Missense_Mutation_p.A683T	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	683	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						AGCACAAGCCGCCACCTTGCT	0.562												
AWAT1	158833	broad.mit.edu	37	X	69455639	69455639	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69455639C>A	uc004dxy.2	+	2	191	c.150C>A	c.(148-150)GCC>GCA	p.A50A		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	50	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3						TTTACTTTGCCTGGTTGTTCC	0.502												
GDPD2	54857	broad.mit.edu	37	X	69647041	69647041	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69647041A>G	uc004dyh.2	+	9	1008	c.757A>G	c.(757-759)ACT>GCT	p.T253A	GDPD2_uc010nkx.1_Missense_Mutation_p.T253A|GDPD2_uc010nky.1_Missense_Mutation_p.T39A|GDPD2_uc011mpk.1_Missense_Mutation_p.T253A|GDPD2_uc011mpl.1_Missense_Mutation_p.T174A|GDPD2_uc011mpm.1_Missense_Mutation_p.T174A	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	253	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					ATGCGGAGCTACTGTGTTTGA	0.582												
DLG3	1741	broad.mit.edu	37	X	69719080	69719080	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:69719080A>G	uc004dyi.1	+	15	2253	c.1925A>G	c.(1924-1926)GAT>GGT	p.D642G	DLG3_uc004dyj.1_Missense_Mutation_p.D337G|DLG3_uc011mpn.1_Missense_Mutation_p.D190G	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	642	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CGAGTCAATGATGACCTGATC	0.527												
MED12	9968	broad.mit.edu	37	X	70349624	70349624	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70349624G>A	uc004dyy.2	+	27	3985	c.3786G>A	c.(3784-3786)AGG>AGA	p.R1262R	MED12_uc011mpq.1_Silent_p.R1262R|MED12_uc004dyz.2_Silent_p.R1262R|MED12_uc004dza.2_Silent_p.R1109R|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1262					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)					GTGGTCGGAGGCAGGGTGGCC	0.577											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NLGN3	54413	broad.mit.edu	37	X	70367985	70367985	+	Missense_Mutation	SNP	T	T	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70367985T>A	uc004dzd.1	+	1	586	c.386T>A	c.(385-387)ATC>AAC	p.I129N	NLGN3_uc010nlb.1_Missense_Mutation_p.I129N|NLGN3_uc004dzb.2_Missense_Mutation_p.I129N|NLGN3_uc004dzc.2_Missense_Mutation_p.I12N|NLGN3_uc011mps.1_Missense_Mutation_p.I129N|NLGN3_uc011mpr.1_Missense_Mutation_p.I129N	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	129	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					AACTTGGATATCGTCGCTACT	0.582												
ZMYM3	9203	broad.mit.edu	37	X	70462271	70462271	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70462271G>A	uc004dzh.1	-	23	3638	c.3551C>T	c.(3550-3552)ACG>ATG	p.T1184M	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T1184M|ZMYM3_uc004dzj.1_Missense_Mutation_p.T1172M	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1184					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					AGAGAACACCGTATCTACAAT	0.547												
ITGB1BP2	26548	broad.mit.edu	37	X	70522261	70522261	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70522261G>A	uc004dzr.1	+	4	201	c.172G>A	c.(172-174)GGC>AGC	p.G58S	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.G40S	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	58	Cys-rich.|CHORD 1.				muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					TCTATACTAGGGCTGTACTAT	0.443												
TAF1	6872	broad.mit.edu	37	X	70618474	70618474	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70618474C>T	uc004dzu.3	+	24	3721	c.3670C>T	c.(3670-3672)CGG>TGG	p.R1224W	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1245W|TAF1_uc004dzv.3_Missense_Mutation_p.R398W	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1224	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GCGAAAAGAACGGCGGAGGAT	0.473												
ACRC	93953	broad.mit.edu	37	X	70823685	70823685	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70823685G>A	uc004eae.2	+	8	1059	c.558G>A	c.(556-558)TCG>TCA	p.S186S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	186	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498												
PHKA1	5255	broad.mit.edu	37	X	71856206	71856206	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:71856206C>T	uc004eax.3	-	15	1791	c.1490G>A	c.(1489-1491)CGA>CAA	p.R497Q	PHKA1_uc004eay.3_Missense_Mutation_p.R497Q|PHKA1_uc011mqi.1_Missense_Mutation_p.R497Q	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	497					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TCTGTAGGGTCGTCCACTGAG	0.358												
ZDHHC15	158866	broad.mit.edu	37	X	74649028	74649028	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:74649028T>C	uc004ecg.2	-	7	966	c.488A>G	c.(487-489)AAT>AGT	p.N163S	ZDHHC15_uc004ech.2_Missense_Mutation_p.N154S|ZDHHC15_uc011mqo.1_Intron	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	163	DHHC-type.					integral to membrane	zinc ion binding			ovary(2)	2						AATGCAGTTATTAACCCTAAA	0.353												
MAGEE1	57692	broad.mit.edu	37	X	75649389	75649389	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:75649389G>A	uc004ecm.1	+	1	1273	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	356	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						AAGCACTTCCGTACTGCCAAT	0.687												
MAGT1	84061	broad.mit.edu	37	X	77112976	77112976	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:77112976G>A	uc004fof.2	-	4	567	c.505C>T	c.(505-507)CCA>TCA	p.P169S	MAGT1_uc004fog.3_RNA	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	137					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ATGAAAGTTGGAGCTGAATTC	0.378												
PGK1	5230	broad.mit.edu	37	X	77372817	77372817	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:77372817C>T	uc004ecz.3	+	5	598	c.426C>T	c.(424-426)GCC>GCT	p.A142A	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.A114A	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	142					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTTAAAGCCGAGCCAGCCA	0.423												
TBX22	50945	broad.mit.edu	37	X	79277874	79277874	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:79277874C>T	uc010nmg.1	+	2	240	c.106C>T	c.(106-108)CGG>TGG	p.R36W	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.R36W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	36					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GCCTGAGCTGCGGGAGAAAAA	0.607												
CYLC1	1538	broad.mit.edu	37	X	83129420	83129420	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:83129420A>G	uc004eei.1	+	4	1725	c.1704A>G	c.(1702-1704)TCA>TCG	p.S568S	CYLC1_uc004eeh.1_Silent_p.S567S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	568					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CTGCAAATTCAAAGATGGAAG	0.373												
PCDH11X	27328	broad.mit.edu	37	X	91133016	91133016	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:91133016A>G	uc004efk.1	+	2	2622	c.1777A>G	c.(1777-1779)ACT>GCT	p.T593A	PCDH11X_uc004efl.1_Missense_Mutation_p.T593A|PCDH11X_uc004efo.1_Missense_Mutation_p.T593A|PCDH11X_uc010nmv.1_Missense_Mutation_p.T593A|PCDH11X_uc004efm.1_Missense_Mutation_p.T593A|PCDH11X_uc004efn.1_Missense_Mutation_p.T593A|PCDH11X_uc004efh.1_Missense_Mutation_p.T593A|PCDH11X_uc004efj.1_Missense_Mutation_p.T593A	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	593	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AGGACTAATCACTGTAACTGA	0.398												
PCDH11X	27328	broad.mit.edu	37	X	91133119	91133119	+	Missense_Mutation	SNP	C	C	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:91133119C>G	uc004efk.1	+	2	2725	c.1880C>G	c.(1879-1881)CCA>CGA	p.P627R	PCDH11X_uc004efl.1_Missense_Mutation_p.P627R|PCDH11X_uc004efo.1_Missense_Mutation_p.P627R|PCDH11X_uc010nmv.1_Missense_Mutation_p.P627R|PCDH11X_uc004efm.1_Missense_Mutation_p.P627R|PCDH11X_uc004efn.1_Missense_Mutation_p.P627R|PCDH11X_uc004efh.1_Missense_Mutation_p.P627R|PCDH11X_uc004efj.1_Missense_Mutation_p.P627R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GTCATCCGACCAAATATTTCA	0.383												
PCDH19	57526	broad.mit.edu	37	X	99662949	99662949	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:99662949G>A	uc010nmz.2	-	1	2323	c.647C>T	c.(646-648)CCG>CTG	p.P216L	PCDH19_uc004efw.3_Missense_Mutation_p.P216L|PCDH19_uc004efx.3_Missense_Mutation_p.P216L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	216	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CAGGCGCGGCGGGTCGCCACC	0.617												
XKRX	402415	broad.mit.edu	37	X	100183185	100183185	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:100183185T>C	uc004egn.2	-	1	714	c.109A>G	c.(109-111)ATC>GTC	p.I37V	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	37	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GAGAAAAGGATGCTAAATGGA	0.433												
TAF7L	54457	broad.mit.edu	37	X	100532688	100532688	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:100532688T>C	uc004ehb.2	-	9	867	c.855A>G	c.(853-855)GAA>GAG	p.E285E	TAF7L_uc004eha.2_Silent_p.E199E|TAF7L_uc004ehc.1_Silent_p.E199E	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	285					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TGGTTCCATCTTCAGCAATGA	0.473												
BHLHB9	80823	broad.mit.edu	37	X	102004166	102004166	+	Silent	SNP	G	G	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:102004166G>C	uc010nog.2	+	4	814	c.243G>C	c.(241-243)CTG>CTC	p.L81L	BHLHB9_uc011mrq.1_Silent_p.L81L|BHLHB9_uc011mrr.1_Silent_p.L81L|BHLHB9_uc011mrs.1_Silent_p.L81L|BHLHB9_uc011mrt.1_Silent_p.L81L|BHLHB9_uc004ejo.2_Silent_p.L81L|BHLHB9_uc011mru.1_Silent_p.L81L|BHLHB9_uc011mrv.1_Silent_p.L81L	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	81						cytoplasm|nucleus	binding			ovary(2)	2						CTAAGACTCTGGGCAAAGCCA	0.522												
MORF4L2	9643	broad.mit.edu	37	X	102931578	102931578	+	Silent	SNP	A	A	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:102931578A>C	uc004ekw.2	-	4	1610	c.378T>G	c.(376-378)CCT>CCG	p.P126P	MORF4L2_uc004ela.2_Silent_p.P126P|MORF4L2_uc004ekx.2_Silent_p.P126P|MORF4L2_uc004elb.2_Silent_p.P126P|MORF4L2_uc004eky.2_Silent_p.P126P|MORF4L2_uc010nos.2_Silent_p.P126P|MORF4L2_uc004ekz.2_Silent_p.P126P|MORF4L2_uc011mry.1_Silent_p.P126P|MORF4L2_uc011mrz.1_Silent_p.P126P|MORF4L2_uc004elc.2_Silent_p.P126P|MORF4L2_uc004elf.2_Silent_p.P126P|MORF4L2_uc004ele.2_Silent_p.P126P|MORF4L2_uc011msa.1_Silent_p.P126P|MORF4L2_uc011msb.1_Silent_p.P126P|MORF4L2_uc011msc.1_Silent_p.P126P|MORF4L2_uc011msd.1_Silent_p.P126P|MORF4L2_uc004eld.2_Silent_p.P126P	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	126					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						TTAATTCTTCAGGAATCTTCA	0.478												
TBC1D8B	54885	broad.mit.edu	37	X	106070451	106070451	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:106070451A>G	uc004emo.2	+	7	1252	c.1087A>G	c.(1087-1089)ATC>GTC	p.I363V	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.I363V|TBC1D8B_uc004emn.2_Missense_Mutation_p.I363V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	363						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CATCATTAGCATCAAAGGAAA	0.373												
IRS4	8471	broad.mit.edu	37	X	107977613	107977613	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:107977613T>C	uc004eoc.2	-	1	1995	c.1962A>G	c.(1960-1962)AGA>AGG	p.R654R		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	654						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						AAAAATAAAGTCTGAATCTTC	0.517												
GUCY2F	2986	broad.mit.edu	37	X	108631747	108631747	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:108631747G>A	uc004eod.3	-	15	3203	c.2927C>T	c.(2926-2928)CCG>CTG	p.P976L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	976	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AATTCGGACCGGCACTTCTGG	0.448												
PAK3	5063	broad.mit.edu	37	X	110406208	110406208	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:110406208A>G	uc004epa.2	+	6	606	c.579A>G	c.(577-579)GAA>GAG	p.E193E	PAK3_uc010npt.1_Silent_p.E178E|PAK3_uc010npu.1_Silent_p.E178E|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.E178E|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.E214E|PAK3_uc010npw.1_Silent_p.E199E	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	193	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P193Q(1)		lung(6)|ovary(3)|large_intestine(1)	10						atgaagaggaagaagaagaag	0.328										TSP Lung(19;0.15)		
LHFPL1	340596	broad.mit.edu	37	X	111914340	111914340	+	Silent	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:111914340A>G	uc004epq.2	-	2	612	c.279T>C	c.(277-279)GCT>GCC	p.A93A	LHFPL1_uc004epp.2_Silent_p.A116A|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.A93A	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	93	Helical; (Potential).					integral to membrane					0						GGAGCAGCAGAGCACAGCCGG	0.582												
ZBTB33	10009	broad.mit.edu	37	X	119388799	119388799	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:119388799G>A	uc004esn.1	+	2	1757	c.1529G>A	c.(1528-1530)CGG>CAG	p.R510Q	ZBTB33_uc010nqm.1_Missense_Mutation_p.R510Q	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	510	Interaction with CTNND1 (By similarity).|C2H2-type 1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ACAAGCTTGCGGAGACATTTT	0.368												
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:120181966G>A	uc004eto.2	+	1	505	c.428G>A	c.(427-429)CGC>CAC	p.R143H		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567												
ODZ1	10178	broad.mit.edu	37	X	124029834	124029834	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:124029834T>G	uc004euj.2	-	2	538	c.474A>C	c.(472-474)GAA>GAC	p.E158D	ODZ1_uc011muj.1_Missense_Mutation_p.E158D|ODZ1_uc010nqy.2_Missense_Mutation_p.E158D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	158	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TATTACCATTTTCCCCATCAG	0.403												
XPNPEP2	7512	broad.mit.edu	37	X	128879210	128879210	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:128879210G>A	uc004eut.1	+	4	510	c.266G>A	c.(265-267)CGT>CAT	p.R89H	XPNPEP2_uc011mum.1_Missense_Mutation_p.R89H	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	89					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GACGAGAGGCGTGCGTGGATT	0.498												
RAB33A	9363	broad.mit.edu	37	X	129318542	129318542	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:129318542C>T	uc004evl.2	+	2	806	c.542C>T	c.(541-543)TCG>TTG	p.S181L	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						TTTGAGACATCGGCCAAGGAC	0.517												
ZNF280C	55609	broad.mit.edu	37	X	129380906	129380906	+	Missense_Mutation	SNP	T	T	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:129380906T>G	uc004evm.2	-	3	259	c.105A>C	c.(103-105)GAA>GAC	p.E35D	ZNF280C_uc010nrf.1_Missense_Mutation_p.E35D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CCTGAGTTTCTTCTACTTTCT	0.373												
PHF6	84295	broad.mit.edu	37	X	133551319	133551319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:133551319C>T	uc004exj.2	+	9	1157	c.955C>T	c.(955-957)CGA>TGA	p.R319*	PHF6_uc004exk.2_Nonsense_Mutation_p.R319*|PHF6_uc011mvk.1_Nonsense_Mutation_p.R285*|PHF6_uc004exi.2_Nonsense_Mutation_p.R320*	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	319	PHD-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AAATATGTCACGAGGAATTTA	0.353												
SAGE1	55511	broad.mit.edu	37	X	134989196	134989196	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:134989196G>A	uc004ezh.2	+	8	1015	c.848G>A	c.(847-849)GGT>GAT	p.G283D	SAGE1_uc010nry.1_Missense_Mutation_p.G252D|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	283										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCAGGAGCTGGTACTCCAGCC	0.453												
FHL1	2273	broad.mit.edu	37	X	135290003	135290003	+	Silent	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:135290003C>A	uc004ezo.2	+	4	484	c.384C>A	c.(382-384)ACC>ACA	p.T128T	FHL1_uc010nrz.2_Silent_p.T128T|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Silent_p.T128T|FHL1_uc004ezq.2_Silent_p.T128T|FHL1_uc011mvy.1_Silent_p.T128T|FHL1_uc011mvz.1_Silent_p.T128T|FHL1_uc004ezn.2_Silent_p.T128T|FHL1_uc011mwa.1_Silent_p.T157T|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.T144T|FHL1_uc004ezr.2_Translation_Start_Site	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	128	LIM zinc-binding 2.		T -> TI (in XMPMA).		cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					ACTGCTTCACCTGTAGTAACT	0.527												
FGF13	2258	broad.mit.edu	37	X	137717647	137717647	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:137717647G>A	uc004fam.2	-	4	1234	c.572C>T	c.(571-573)GCA>GTA	p.A191V	FGF13_uc004fan.2_Missense_Mutation_p.A138V|FGF13_uc011mwi.1_Missense_Mutation_p.A172V|FGF13_uc004faq.2_Missense_Mutation_p.A201V|FGF13_uc004far.2_Missense_Mutation_p.A172V|FGF13_uc011mwj.1_Missense_Mutation_p.A201V|FGF13_uc011mwk.1_Missense_Mutation_p.A145V	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	191					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAAATGAGCTGCAGGCTTGTT	0.378												
CDR1	1038	broad.mit.edu	37	X	139866222	139866222	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:139866222C>T	uc004fbg.1	-	1	502	c.310G>A	c.(310-312)GAT>AAT	p.D104N	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	104	17.|23 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGGAAATCCGTGTCTTCC	0.458												
MAGEC3	139081	broad.mit.edu	37	X	140926121	140926121	+	Missense_Mutation	SNP	G	G	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140926121G>T	uc011mwp.1	+	1	20	c.20G>T	c.(19-21)TGG>TTG	p.W7L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	7										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGCCACTGGGTGTTGGAT	0.408												
MAGEC3	139081	broad.mit.edu	37	X	140953268	140953268	+	Silent	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140953268G>A	uc011mwp.1	+	2	135	c.135G>A	c.(133-135)AAG>AAA	p.K45K		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	45										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAAAAAGGCCACAGATA	0.483												
MAGEC1	9947	broad.mit.edu	37	X	140996354	140996354	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:140996354A>G	uc004fbt.2	+	4	3450	c.3164A>G	c.(3163-3165)GAG>GGG	p.E1055G	MAGEC1_uc010nsl.1_Missense_Mutation_p.E122G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1055	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CATTACCTAGAGTACCGGGAG	0.522										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	148037708	148037708	+	Silent	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:148037708T>C	uc004fcp.2	+	11	2612	c.2133T>C	c.(2131-2133)ATT>ATC	p.I711I	AFF2_uc004fcq.2_Silent_p.I701I|AFF2_uc004fcr.2_Silent_p.I672I|AFF2_uc011mxb.1_Silent_p.I676I|AFF2_uc004fcs.2_Silent_p.I678I|AFF2_uc011mxc.1_Silent_p.I352I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	711					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAATTCATTGAAACAGATT	0.478												
MAGEA11	4110	broad.mit.edu	37	X	148797293	148797293	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:148797293C>T	uc004fdq.2	+	4	324	c.222C>T	c.(220-222)GAC>GAT	p.D74D	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.D45D	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	74						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCTGGAGGACAGGAGTCCCA	0.498												
GABRE	2564	broad.mit.edu	37	X	151138713	151138713	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:151138713C>T	uc004ffi.2	-	2	272	c.218G>A	c.(217-219)CGC>CAC	p.R73H	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	73	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCAGGATGCGAGAGGCTTC	0.547												
HAUS7	55559	broad.mit.edu	37	X	152722663	152722663	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:152722663C>T	uc004fho.1	-	5	966	c.408G>A	c.(406-408)CAG>CAA	p.Q136Q	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.Q136Q|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	136					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						TGAAGTGTAGCTGCTTCTGGG	0.602												
DUSP9	1852	broad.mit.edu	37	X	152915490	152915490	+	Silent	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:152915490C>T	uc004fhx.3	+	4	1089	c.885C>T	c.(883-885)AGC>AGT	p.S295S	DUSP9_uc004fhy.3_Silent_p.S295S	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	295	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGGTCAGCCGTTCTGTCA	0.607												
PDZD4	57595	broad.mit.edu	37	X	153068923	153068923	+	Missense_Mutation	SNP	C	C	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153068923C>T	uc004fiz.1	-	8	2445	c.2195G>A	c.(2194-2196)CGG>CAG	p.R732Q	PDZD4_uc004fiy.1_Missense_Mutation_p.R657Q|PDZD4_uc004fix.2_Missense_Mutation_p.R636Q|PDZD4_uc004fja.1_Missense_Mutation_p.R738Q|PDZD4_uc011mze.1_Missense_Mutation_p.R623Q	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	732						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTTGTTCCGCTTCTTCAT	0.602												
TKTL1	8277	broad.mit.edu	37	X	153537725	153537725	+	Missense_Mutation	SNP	G	G	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153537725G>A	uc004fkg.2	+	3	467	c.281G>A	c.(280-282)GGA>GAA	p.G94E	TKTL1_uc011mzl.1_Missense_Mutation_p.G88E|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.G38E	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	94					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCAACAGGATGGCTCGGA	0.542												
FLNA	2316	broad.mit.edu	37	X	153592920	153592920	+	Missense_Mutation	SNP	C	C	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153592920C>A	uc004fkk.2	-	13	2245	c.1996G>T	c.(1996-1998)GCG>TCG	p.A666S	FLNA_uc010nuu.1_Missense_Mutation_p.A666S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	666					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A666A(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGGGCGCGTCACGGATG	0.627												
ATP6AP1	537	broad.mit.edu	37	X	153664118	153664118	+	Missense_Mutation	SNP	A	A	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153664118A>G	uc004flf.1	+	10	1355	c.1294A>G	c.(1294-1296)ACC>GCC	p.T432A	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.T392A|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	432	Helical; (Potential).				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGCTGCTCACCTCCCTGTT	0.557												
FUNDC2	65991	broad.mit.edu	37	X	154279963	154279963	+	Missense_Mutation	SNP	T	T	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:154279963T>C	uc004fmw.2	+	4	529	c.379T>C	c.(379-381)TAC>CAC	p.Y127H		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	127						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCATACTGGGTACATCAAAGT	0.403												
PSME4	23198	broad.mit.edu	37	2	54125493	54125493	+	Splice_Site	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:54125492_54125492CT>C	uc002rxp.2	-	30	3479	c.3423_splice	c.e30-1	p.R1141_splice	PSME4_uc010yop.1_Splice_Site_p.R1027_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site_p.R516_splice|PSME4_uc010fbv.1_Splice_Site_p.R285_splice	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1141					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCATAGTTCCTTTAAAAAAA	0.303												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
SEMA4C	54910	broad.mit.edu	37	2	97529534	97529534	+	Splice_Site	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:97529533_97529533TG>T	uc002sxg.4	-	10	1721	c.1490_splice	c.e10-1	p.G497_splice	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Splice_Site_p.G444_splice	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	444	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGTCTCCTGGGGGGTGCA	0.632												
GTF3C3	9330	broad.mit.edu	37	2	197650315	197650315	+	Splice_Site	DEL	A	A	-	rs35643383		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGTAACTCCTAAAAAAAAGT	0.323												
ANKRD44	91526	broad.mit.edu	37	2	197975571	197975571	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197975570_197975570TA>T	uc021vuj.1	-	9	1100	c.907_splice	c.e9-1	p.S303_splice	ANKRD44_uc002utz.4_Splice_Site|ANKRD44_uc021vuk.1_Splice_Site_p.S278_splice|ANKRD44_uc002uub.3_Splice_Site_p.S303_splice|ANKRD44_uc010zgw.2_Splice_Site_p.S231_splice|ANKRD44_uc002uuc.3_Splice_Site_p.S303_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	303							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTTTACTCTAAAAAAAAGA	0.448												
SPOCK3	50859	broad.mit.edu	37	4	167921617	167921617	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:167921616_167921616TA>T	uc011cjq.1	-	3	329	c.272_splice	c.e3-1	p.A91_splice	SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	82					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GATCTAAAGCTAAAAAAATTG	0.338												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
NAA16	79612	broad.mit.edu	37	13	41941577	41941577	+	Splice_Site	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:41941576_41941576AT>A	uc001uyf.2	+	14	1864	c.1540_splice	c.e14-1	p.H514_splice	NAA16_uc010tfg.1_Splice_Site	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	514					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTTTTTAAGCATTTTTTTGAG	0.289												
CTDP1	9150	broad.mit.edu	37	18	77470348	77470348	+	Splice_Site	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:77470347_77470347CT>C	uc002lnh.2	+	6	920	c.773_splice	c.e6-1	p.G258_splice	CTDP1_uc002lni.2_Splice_Site_p.G258_splice|CTDP1_uc010drd.2_Splice_Site_p.G258_splice|CTDP1_uc021ult.1_Splice_Site_p.G139_splice	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	258	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCCAAGGCTTTTTAGACC	0.403												
STK35	140901	broad.mit.edu	37	20	2083828	2083829	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:2083828_2083829insC	uc010gak.2	+	2	709_710	c.709_710insC	c.(709-711)GCCfs	p.A237fs	STK35_uc010zpu.1_Frame_Shift_Ins_p.A104fs|STK35_uc002wfw.3_Frame_Shift_Ins_p.A104fs	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	237	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCGCTGCGACGCCCCCGAGAAC	0.683												
ACTRT2	140625	broad.mit.edu	37	1	2939156	2939157	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:2939155_2939156C>CG	uc001ajz.3	+	0	1110_1111	c.905_906C>CG	c.(904-906)tcgfs	p.S302fs		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	302						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ATTGTGCTGTCGGGGGGCACTA	0.614												
MTOR	2475	broad.mit.edu	37	1	11294235	11294235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:11294234_11294234CG>C	uc001asd.3	-	13	2418	c.2297_2297CG>G	c.(2296-2298)cgafs	p.R766fs		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	766					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCGGATGAGTCGGGGGGCATT	0.537												
KIAA1522	57648	broad.mit.edu	37	1	33235814	33235814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:33235813_33235813TC>T	uc001bvu.1	+	5	1077	c.1033_1033TC>T	c.(1033-1035)tccfs	p.S345fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.S297fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.S286fs|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	286	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATGTCCATCTCCCCCCAGGC	0.657												
KDM4A	9682	broad.mit.edu	37	1	44156565	44156565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:44156564_44156564GC>G	uc001cjx.3	+	13	2252	c.2086_2086GC>G	c.(2086-2088)gccfs	p.A696fs	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAA	0.468												
SPAG17	200162	broad.mit.edu	37	1	118526507	118526508	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:118526506_118526507G>GT	uc001ehk.2	-	41	5867_5868	c.5799_5800C>AC	c.(5797-5802)aaactgfs	p.K1933fs	SPAG17_uc021osr.1_Frame_Shift_Ins_p.K443fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1933						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	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)		AAAGAAGGCAGTTTTTTGGAAA	0.312												
RUSC1	23623	broad.mit.edu	37	1	155297994	155297994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:155297993_155297993CG>C	uc001fkj.2	+	8	2696	c.2467_2467CG>C	c.(2467-2469)cggfs	p.R823fs	RUSC1_uc001fkk.2_Frame_Shift_Del_p.R717fs|RUSC1_uc009wqo.1_Frame_Shift_Del_p.R354fs|RUSC1_uc001fkl.2_Frame_Shift_Del_p.R413fs|RUSC1_uc001fkp.2_Frame_Shift_Del_p.R354fs|RUSC1_uc010pgb.1_Frame_Shift_Del_p.R321fs|RUSC1_uc009wqp.1_Frame_Shift_Del_p.R348fs|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_Frame_Shift_Del_p.R132fs|RUSC1_uc001fkr.2_Frame_Shift_Del_p.R354fs	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	823						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACC	0.562												
APOA1BP	128240	broad.mit.edu	37	1	156562163	156562164	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:156562162_156562163T>TC	uc001fph.3	+	2	336_337	c.297_298T>TC	c.(295-300)tatcccfs	p.Y99fs	APOA1BP_uc001fpi.3_Frame_Shift_Ins_p.Y99fs|APOA1BP_uc001fpk.3_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	99	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCAGGCATATCCCCCCACGTC	0.589												
ALDH9A1	223	broad.mit.edu	37	1	165638218	165638219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:165638217_165638218C>CAT	uc001gdh.1	-	7	1257_1258	c.1152_1153G>ATG	c.(1150-1155)tatgtafs	p.Y384fs	ALDH9A1_uc010pky.1_Frame_Shift_Ins_p.Y290fs|ALDH9A1_uc010pkz.1_Frame_Shift_Ins_p.Y374fs|ALDH9A1_uc010pla.1_Frame_Shift_Ins_p.Y290fs	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	360					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.D384D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TCTTCAGGTACATATATATCTC	0.312												
ELF3	1999	broad.mit.edu	37	1	201981268	201981269	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:201981267_201981268C>CCT	uc001gxg.4	+	1	3538_3539	c.346_347C>CCT	c.(346-348)cctfs	p.P116fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.P116fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.P116fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	116	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTCTTTGGGCCTCTGGGGGAC	0.594												
RASSF5	83593	broad.mit.edu	37	1	206757987	206757987	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:206757986_206757986CT>C	uc001hed.3	+	3	1015	c.958_958CT>C	c.(958-960)cttfs	p.L320fs	RASSF5_uc001hec.1_Frame_Shift_Del_p.L320fs|RASSF5_uc001hee.3_Frame_Shift_Del_p.L320fs|RASSF5_uc001hef.3_Frame_Shift_Del_p.L167fs|RASSF5_uc001heg.1_Frame_Shift_Del_p.L93fs|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	320	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGTTTGCACTTTTTAAGCG	0.522												
CAPN9	10753	broad.mit.edu	37	1	230916357	230916357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:230916356_230916356GC>G	uc001htz.1	+	10	1496	c.1383_1383GC>G	c.(1381-1383)ctgfs	p.L461fs	CAPN9_uc009xfg.1_Frame_Shift_Del_p.L398fs|CAPN9_uc001hua.1_Frame_Shift_Del_p.L435fs	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	461	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGTTCAAGCTGCCCCCTGGGG	0.502												
EXO1	9156	broad.mit.edu	37	1	242048759	242048759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr1:242048758_242048758CG>C	uc021plj.1	+	12	2668	c.2354_2354CG>C	c.(2353-2355)ccgfs	p.P785fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.P785fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.P784fs|EXO1_uc021plk.1_Frame_Shift_Del_p.P785fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	785	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.P785P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGAACAAGCCGGGGTTACAG	0.428								Editing and processing nucleases				
ASXL2	55252	broad.mit.edu	37	2	25976450	25976450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:25976449_25976449CT>C	uc002rgs.2	-	9	1317	c.1096_1096AG>G	c.(1096-1098)gtgfs	p.V366fs	ASXL2_uc002rgt.1_Frame_Shift_Del_p.V106fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTCCACTTTTTTCTCC	0.363												
PSME4	23198	broad.mit.edu	37	2	54125493	54125493	+	Splice_Site	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:54125492_54125492CT>C	uc002rxp.2	-	30	3479	c.3423_splice	c.e30-1	p.R1141_splice	PSME4_uc010yop.1_Splice_Site_p.R1027_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site_p.R516_splice|PSME4_uc010fbv.1_Splice_Site_p.R285_splice	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1141					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCATAGTTCCTTTAAAAAAA	0.303												
CCDC88A	55704	broad.mit.edu	37	2	55561622	55561622	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:55561621_55561621AT>A	uc002ryv.2	-	14	3178	c.2336_2336AT>T	c.(2335-2337)atcfs	p.I779fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.I779fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.I62fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	779					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.I779fs*7(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTGCTGGATTTTTTTATT	0.328												
ATP6V1B1	525	broad.mit.edu	37	2	71189974	71189975	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:71189973_71189974G>GA	uc002shj.3	+	8	939_940	c.852_853G>GA	c.(850-855)gagaagfs	p.E284fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Ins_p.E242fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	284					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	p.E284D(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						ACCAGTGTGAGAAGCATGTGCT	0.579												
ALMS1	7840	broad.mit.edu	37	2	73800081	73800081	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:73800080_73800080TA>T	uc002sje.1	+	15	11184	c.11073_11073TA>T	c.(11071-11073)cttfs	p.L3691fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.L3649fs|ALMS1_uc002sjg.3_Frame_Shift_Del_p.L3079fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.L3079fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3691					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGGCGAGCTTAAAAAAAGCA	0.363												
WBP1	23559	broad.mit.edu	37	2	74687543	74687543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:74687542_74687542GC>G	uc002slj.2	+	3	747	c.544_544GC>G	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCA	0.602												
LRRTM4	80059	broad.mit.edu	37	2	77745589	77745589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:77745588_77745588CT>C	uc002snr.3	-	2	1822	c.1407_1407AG>G	c.(1405-1407)aagfs	p.K469fs	LRRTM4_uc002snq.3_Frame_Shift_Del_p.K469fs|LRRTM4_uc002sns.2_Frame_Shift_Del_p.K469fs|LRRTM4_uc002snt.2_Frame_Shift_Del_p.K470fs	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	469						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTCTGGCCTTTTTCCGCC	0.453												
SEMA4C	54910	broad.mit.edu	37	2	97529534	97529534	+	Splice_Site	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:97529533_97529533TG>T	uc002sxg.4	-	10	1721	c.1490_splice	c.e10-1	p.G497_splice	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Splice_Site_p.G444_splice	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	444	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGTCTCCTGGGGGGTGCA	0.632												
MITD1	129531	broad.mit.edu	37	2	99785845	99785846	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:99785844_99785845A>AT	uc002szs.1	-	6	791_792	c.743_744T>AT	c.(742-744)aatfs	p.N248fs	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	248					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						CCCATCATATATTTTTTGTATG	0.267												
TTN	7273	broad.mit.edu	37	2	179579970	179579971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:179579969_179579970C>CT	uc021vsy.1	-	86	22436_22437	c.22211_22212G>AG	c.(22210-22212)aagfs	p.K7404fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K4065fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8331	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGATGAGGCTTTTTGCGGAA	0.391												
ANKRD44	91526	broad.mit.edu	37	2	197990603	197990603	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr2:197990602_197990602GC>G	uc021vuj.1	-	4	614	c.421_421GC>C	c.(421-423)cgcfs	p.R141fs	ANKRD44_uc021vuk.1_Frame_Shift_Del_p.R116fs|ANKRD44_uc002uub.3_Frame_Shift_Del_p.R141fs|ANKRD44_uc010zgw.2_Frame_Shift_Del_p.R69fs|ANKRD44_uc002uuc.3_Frame_Shift_Del_p.R141fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	141							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCTGTGCGCCCCCCTCGG	0.557												
C3orf20	84077	broad.mit.edu	37	3	14802989	14802989	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:14802988_14802988CG>C	uc003byy.3	+	14	2813	c.2361_2361CG>C	c.(2359-2361)gccfs	p.A787fs	C3orf20_uc003byz.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bza.3_Frame_Shift_Del_p.A665fs|C3orf20_uc003bzb.1_Frame_Shift_Del_p.A288fs|C3orf20_uc011avj.2_Frame_Shift_Del_p.A114fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	787						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGATGTTTGCCGGGGGGAAGC	0.473												
ZNF619	285267	broad.mit.edu	37	3	40529660	40529660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:40529659_40529659AT>A	uc011azb.2	+	5	2085	c.1778_1778AT>A	c.(1777-1779)catfs	p.H593fs	ZNF619_uc011aza.2_Frame_Shift_Del_p.H495fs|ZNF619_uc011azc.2_Frame_Shift_Del_p.H553fs|ZNF619_uc011azd.2_Frame_Shift_Del_p.H509fs|ZNF619_uc003ckj.3_Frame_Shift_Del_p.H537fs|ZNF619_uc021wwh.1_Frame_Shift_Del_p.H544fs	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	593					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAAATAGCACATTTTTTTCAG	0.483												
CTNNB1	1499	broad.mit.edu	37	3	41268763	41268763	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:41268762_41268762GA>G	uc010hia.1	+	7	1156	c.1000_1000GA>G	c.(1000-1002)gaafs	p.E334fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.E334fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.E327fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.E262fs|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	334					Schwann cell proliferation|T cell differentiation in thymus|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|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 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 T cell proliferation|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|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|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|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E334K(2)|p.Y333*(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTATACTTACGAAAAACTACT	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of			
TLR9	54106	broad.mit.edu	37	3	52257754	52257754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:52257753_52257753AC>A	uc003ddb.3	-	4	1080	c.870_870GT>T	c.(868-870)ggtfs	p.G290fs	TLR9_uc003dda.2_Frame_Shift_Del_p.G193fs	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	193					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 chemokine production|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 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			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAAGGAGGGCACCCGGGGCCA	0.617												
RG9MTD1	54931	broad.mit.edu	37	3	101284403	101284403	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:101284402_101284402TA>T	uc003duz.3	+	1	925	c.777_777TA>T	c.(775-777)gttfs	p.V259fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.V259fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	259					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						GAGAGTTAGTTAAACGGTATC	0.323												
NPHP3	27031	broad.mit.edu	37	3	132431994	132431994	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:132431993_132431993TA>T	uc003epe.2	-	5	1199	c.1095_1095TA>A	c.(1093-1095)ttafs	p.L365fs	NPHP3_uc003epf.2_Frame_Shift_Del_p.L120fs	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	365					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGAATAAATAAAATAACTA	0.269												
LIPH	200879	broad.mit.edu	37	3	185237031	185237032	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr3:185237030_185237031GCT>G	uc003fpm.3	-	5	895_896	c.785_786AGC>C	c.(784-786)agcfs	p.S262fs	LIPH_uc010hyh.3_Frame_Shift_Del_p.S228fs	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	262					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATGGTGCAGCTCTCTCTCAG	0.475												
HTT	3064	broad.mit.edu	37	4	3133117	3133117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:3133116_3133116GA>G	uc021xkv.1	+	14	2235	c.2090_2090GA>G	c.(2089-2091)ggafs	p.G697fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	697					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAACAGGGGGAAAAAATGGT	0.478												
ARAP2	116984	broad.mit.edu	37	4	36130292	36130292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:36130291_36130291CT>C	uc003gsq.2	-	20	3842	c.3504_3504AG>G	c.(3502-3504)aagfs	p.K1168fs		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1168	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTGCATCCTTTTTGAAAC	0.348												
APBB2	323	broad.mit.edu	37	4	41015678	41015678	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:41015677_41015677AG>A	uc003gvn.3	-	5	1388	c.758_758CT>T	c.(757-759)ctgfs	p.L253fs	APBB2_uc003gvl.3_Frame_Shift_Del_p.L253fs|APBB2_uc003gvm.3_Frame_Shift_Del_p.L253fs|APBB2_uc011byt.1_Frame_Shift_Del_p.L236fs	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	253					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCTCGGTGCCAGGTTCTGGAT	0.592												
TMPRSS11A	339967	broad.mit.edu	37	4	68784942	68784942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:68784941_68784941AT>A	uc003hdr.1	-	7	832	c.711_711AT>T	c.(709-711)aatfs	p.N237fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.N234fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	237	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTGATGTGGATTTTTATACC	0.323												
UGT2B17	7367	broad.mit.edu	37	4	69433933	69433934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:69433932_69433933T>TA	uc021xov.1	-	0	313_314	c.270_271A>TA	c.(268-273)tttatgfs	p.F90fs		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	90					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACATTTTCATAAAAAAATCTT	0.277												
KIAA1109	84162	broad.mit.edu	37	4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACT	0.383												
KIAA1109	84162	broad.mit.edu	37	4	123202735	123202736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:123202734_123202735G>GA	uc003ieh.3	+	49	8887_8888	c.8842_8843G>GA	c.(8842-8844)gaafs	p.E2948fs	KIAA1109_uc003iel.1_Frame_Shift_Ins_p.E883fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTACCTTCTGAAAAAACCCCA	0.342												
SPOCK3	50859	broad.mit.edu	37	4	167921617	167921617	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:167921616_167921616TA>T	uc011cjq.1	-	3	329	c.272_splice	c.e3-1	p.A91_splice	SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	82					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GATCTAAAGCTAAAAAAATTG	0.338												
MTNR1A	4543	broad.mit.edu	37	4	187455155	187455155	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr4:187455154_187455154CA>C	uc003izd.1	-	1	760	c.742_742TG>G	c.(742-744)gccfs	p.A248fs		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	248					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAGCAAATGGCAAAAAGGACA	0.527												
DNAH5	1767	broad.mit.edu	37	5	13841161	13841162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:13841160_13841161A>AT	uc003jfd.2	-	33	5605_5606	c.5563_5564T>AT	c.(5563-5565)atcfs	p.I1855fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1855	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1855M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTGCATGATTTTTTTATCA	0.396									Kartagener syndrome			
IPO11	51194	broad.mit.edu	37	5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:61847114_61847114GT>G	uc011cqr.2	+	25	2661	c.2531_2531GT>G	c.(2530-2532)agtfs	p.S844fs	IPO11_uc003jtc.3_Frame_Shift_Del_p.S804fs|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	804						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAAAACACTAGTTTTTTTTCT	0.303												
SLC30A5	64924	broad.mit.edu	37	5	68414387	68414387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:68414386_68414386GT>G	uc003jvh.3	+	11	1807	c.1500_1500GT>G	c.(1498-1500)gcgfs	p.A500fs	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Frame_Shift_Del_p.A229fs|SLC30A5_uc003jvi.3_Frame_Shift_Del_p.A329fs	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	500					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		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)		TAGTAATAGCGTTTTTTGTGT	0.323												
CNOT6	57472	broad.mit.edu	37	5	179994114	179994114	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr5:179994113_179994113GT>G	uc003mlx.3	+	7	1092	c.743_743GT>G	c.(742-744)agtfs	p.S248fs	CNOT6_uc010jld.3_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.3_Frame_Shift_Del_p.S243fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTG	0.348												
KIF13A	63971	broad.mit.edu	37	6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418												
GSTA3	2940	broad.mit.edu	37	6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:52764819_52764821CAGA>C	uc003pbb.3	-	4	404_406	c.325_327TCTG>G	c.(325-327)ctg>G	p.L109del	GSTA3_uc010jzq.3_In_Frame_Del_p.L53del	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	109	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GACATAAGGGCAGAAGAAGGATC	0.394												
SH3BGRL2	83699	broad.mit.edu	37	6	80383444	80383445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:80383443_80383444T>TC	uc003piz.1	+	1	337_338	c.158_159T>TC	c.(157-159)gtcfs	p.V53fs		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 2 (SH3BGRL2), mRNA.	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TACAAAAACGTCCCCCCGGAAA	0.470												
IBTK	25998	broad.mit.edu	37	6	82904289	82904289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:82904288_82904288CT>C	uc003pjl.1	-	22	3773	c.3246_3246AG>G	c.(3244-3246)aagfs	p.K1082fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K33fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1067fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K881fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K776fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.K1082fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1082					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GTATTGGTGACTTTTCCCATG	0.393												
AHI1	54806	broad.mit.edu	37	6	135784284	135784285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:135784283_135784284G>GT	uc003qgi.3	-	7	1294_1295	c.910_911C>AC	c.(910-912)acafs	p.T304fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T304fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307												
SYNE1	23345	broad.mit.edu	37	6	152534877	152534877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr6:152534876_152534876CA>C	uc021zhb.1	-	120	22588	c.22365_22365TG>G	c.(22363-22365)ttgfs	p.L7455fs	SYNE1_uc003qos.4_Frame_Shift_Del_p.L1979fs|SYNE1_uc003qot.4_Frame_Shift_Del_p.L7384fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.L7455fs|SYNE1_uc003qor.4_Frame_Shift_Del_p.L355fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7455					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGTTGTAGCAAAAATGACT	0.338										HNSCC(10;0.0054)		
FAM126A	84668	broad.mit.edu	37	7	23023639	23023639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:23023638_23023638AT>A	uc003svm.4	-	2	333	c.78_78AT>T	c.(76-78)aatfs	p.N26fs	FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	26						cytoplasm|membrane	signal transducer activity	p.N26K(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTGTGGCATAATTTGGTAAAG	0.303												
NPC1L1	29881	broad.mit.edu	37	7	44561376	44561377	+	Frame_Shift_Ins	INS	-	-	GG	rs144720939	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:44561375_44561376C>CGG	uc003tlb.3	-	11	2944_2945	c.2888_2889G>CCG	c.(2887-2889)ccgfs	p.P963fs	NPC1L1_uc011kbw.2_Frame_Shift_Ins_p.P917fs|NPC1L1_uc003tlc.3_Frame_Shift_Ins_p.P963fs|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	963					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAGGACGGGGTCAGCCA	0.599												
FIGNL1	63979	broad.mit.edu	37	7	50514060	50514060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr7:50514059_50514059CT>C	uc003tpd.3	-	3	1297	c.927_927AG>G	c.(925-927)aagfs	p.K309fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	309					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTGGTGGTACTTTTTTTGCT	0.428												
HR	55806	broad.mit.edu	37	8	21984903	21984903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:21984902_21984902AC>A	uc003xas.3	-	2	1718	c.1053_1053GT>T	c.(1051-1053)ggtfs	p.G351fs	HR_uc003xat.3_Frame_Shift_Del_p.G351fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	351							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCACTGGCACCCCCCTCCA	0.652												
MSC	9242	broad.mit.edu	37	8	72755997	72755998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:72755996_72755997C>CG	uc003xyx.1	-	0	735_736	c.417_418G>CG	c.(415-420)cccgacfs	p.P139fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	139	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGCTTAGTGTCGGGGGGCACCC	0.649											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC7A13	157724	broad.mit.edu	37	8	87229784	87229784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:87229783_87229783GA>G	uc003ydq.1	-	2	1193	c.1095_1095TC>C	c.(1093-1095)ttcfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	365						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATAT	0.338												
POP1	10940	broad.mit.edu	37	8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTC	0.507												
RUSC2	9853	broad.mit.edu	37	9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:35547973_35547973AC>A	uc003zww.3	+	1	1710	c.1455_1455AC>A	c.(1453-1455)tcafs	p.S485fs	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.S485fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	485						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGAATACTTCACCCCCCAACC	0.597												
ZCCHC6	79670	broad.mit.edu	37	9	88967954	88967954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:88967953_88967953CT>C	uc004aou.3	-	1	300	c.162_162AG>G	c.(160-162)aagfs	p.K54fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aow.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc010mqf.2_Frame_Shift_Del_p.K54fs	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	54					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGTTATCTTCTTTTTTTGAA	0.418												
OR13C2	392376	broad.mit.edu	37	9	107366985	107366985	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:107366984_107366984GT>G	uc011lvq.2	-	0	925	c.925_925AC>C	c.(925-927)cacfs	p.H309fs		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTCAGTAGGTGTTTTACTGCC	0.353												
KIAA0368	23392	broad.mit.edu	37	9	114140904	114140905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:114140903_114140904T>TG	uc004bfe.1	-	36	4444_4445	c.4444_4445A>CA	c.(4444-4446)caafs	p.Q1482fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGAGAACTTGGGGCTCCAAT	0.480												
PRPF4	9128	broad.mit.edu	37	9	116044975	116044975	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:116044974_116044974CA>C	uc004bgx.3	+	3	554	c.444_444CA>C	c.(442-444)accfs	p.T148fs	PRPF4_uc004bgy.3_Frame_Shift_Del_p.T147fs	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	148						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGAAAAAGACCAAAAAGGATG	0.338												
PAPPA	5069	broad.mit.edu	37	9	118949475	118949475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:118949474_118949474TG>T	uc004bjn.3	+	1	838	c.457_457TG>T	c.(457-459)tggfs	p.W153fs	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	153					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGACCGAGGATGGGTCGTGGG	0.478												
ENTPD2	954	broad.mit.edu	37	9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	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)		GGGTAGAGGCACCCCCCAGGT	0.647												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
DRGX	644168	broad.mit.edu	37	10	50594774	50594774	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:50594773_50594773AG>A	uc010qgq.2	-	3	381	c.381_381CT>T	c.(379-381)cctfs	p.P127fs	DRGX_uc021pqd.1_Frame_Shift_Del_p.P122fs	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	127					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTTGGTCCCCAGGGGGCGGGG	0.652												
PTEN	5728	broad.mit.edu	37	10	89717770	89717771	+	Frame_Shift_Ins	INS	-	-	A	rs121913289		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:89717769_89717770T>TA	uc001kfb.3	+	6	1826_1827	c.794_795T>TA	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.K267fs*9(4)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTTT	0.347		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PIK3AP1	118788	broad.mit.edu	37	10	98362066	98362066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:98362065_98362065TG>T	uc001kmq.3	-	15	2460	c.2332_2332CA>A	c.(2332-2334)aggfs	p.R778fs	PIK3AP1_uc001kmo.3_Frame_Shift_Del_p.R377fs|PIK3AP1_uc001kmp.3_Frame_Shift_Del_p.R600fs	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	778	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGAGGCACCCTGGGGGGTCTC	0.517												
INPP5F	22876	broad.mit.edu	37	10	121587066	121587068	+	In_Frame_Del	DEL	CTC	CTC	-	rs148162878		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr10:121587065_121587067TCTC>T	uc001leo.3	+	19	3388_3390	c.3172_3174TCTC>T	c.(3172-3174)tct>T	p.S1058del	INPP5F_uc001lep.3_In_Frame_Del_p.S448del	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	1058							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGTAACTCCTTCTCCTTCAGAGA	0.493												
KRTAP5-3	387266	broad.mit.edu	37	11	1629000	1629002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:1628999_1629001GAGC>G	uc001ltw.1	-	0	693_695	c.615_617GCTC>C	c.(613-618)tgctcc>tgCc	p.S207del	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	207	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		acagcctgaggagcagcagcagg	0.616												
PRDM11	56981	broad.mit.edu	37	11	45204461	45204461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:45204460_45204460GC>G	uc001myo.3	+	4	623	c.374_374GC>G	c.(373-375)ggcfs	p.G125fs		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	125								p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAAACCATGGCCCCCCGGTG	0.602												
ROM1	6094	broad.mit.edu	37	11	62381819	62381819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:62381818_62381818CA>C	uc001ntv.3	+	1	1220	c.679_679CA>C	c.(679-681)caafs	p.Q227fs	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	227					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCCTTGCCTGCAAAACCGTCT	0.592												
FOLR4	390243	broad.mit.edu	37	11	94039839	94039840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:94039838_94039839T>TC	uc021qou.1	+	1	298_299	c.298_299T>TC	c.(298-300)tccfs	p.S100fs		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	100						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTATGAGTGCTCCCCAAACCTG	0.545												
TRPC6	7225	broad.mit.edu	37	11	101353747	101353747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:101353746_101353746GT>G	uc001pgk.4	-	4	1869	c.1444_1444AC>C	c.(1444-1446)cagfs	p.Q482fs	TRPC6_uc009ywy.3_Frame_Shift_Del_p.Q366fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.Q427fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	482					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGAACAGCTGTTTTGCATTA	0.408												
C11orf70	85016	broad.mit.edu	37	11	101937275	101937275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:101937274_101937274AT>A	uc001pgp.3	+	3	360	c.327_327AT>A	c.(325-327)tcafs	p.S109fs	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Frame_Shift_Del_p.S71fs	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	109										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTCAATGTCATTTTTTCATC	0.289												
RDX	5962	broad.mit.edu	37	11	110104137	110104137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:110104136_110104136AG>A	uc009yxy.3	-	12	1723	c.1413_1413CT>T	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Del_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Del_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Del_p.P125fs|RDX_uc001pku.3_Frame_Shift_Del_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Del_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAG	0.433												
TECTA	7007	broad.mit.edu	37	11	121000373	121000373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121000372_121000372CT>C	uc010rzo.2	+	8	2393	c.2393_2393CT>C	c.(2392-2394)cctfs	p.P798fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	798	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	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)		GTGGAATTGCCTTTTTTCCAT	0.438												
SORL1	6653	broad.mit.edu	37	11	121393396	121393398	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr11:121393395_121393397GCCT>G	uc001pxx.3	+	9	1634_1636	c.1505_1507GCCT>G	c.(1504-1509)ggcctc>gGtc	p.L503del		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	503					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCGGCTCCAGGCCTCATCATCGC	0.581												
ATF7IP	55729	broad.mit.edu	37	12	14631256	14631257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:14631255_14631256C>CA	uc001rbw.3	+	11	3104_3105	c.2946_2947C>CA	c.(2944-2949)cccaaafs	p.P982fs	ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.P981fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.P981fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.P982fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.P982fs	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	982					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						TAACAGACCCCAAAAAACTAAA	0.396												
MLL2	8085	broad.mit.edu	37	12	49445203	49445203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:49445202_49445202CG>C	uc001rta.4	-	9	2264	c.2264_2264CG>G	c.(2263-2265)cggfs	p.R755fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	755	Pro-rich.			Missing (in Ref. 1; AAC51734).	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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCCTCAGGCCGGGGGGACAG	0.687			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
TENC1	23371	broad.mit.edu	37	12	53453399	53453399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53453398_53453398TG>T	uc001sbp.3	+	17	2108	c.1973_1973TG>T	c.(1972-1974)atgfs	p.M658fs	TENC1_uc001sbl.3_Frame_Shift_Del_p.M534fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.M668fs|TENC1_uc001sbq.3_Frame_Shift_Del_p.M153fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Del_p.M153fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	658					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCACCTGAGATGGGGAAACCA	0.657												
AAAS	8086	broad.mit.edu	37	12	53701679	53701679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:53701678_53701678TG>T	uc001scr.4	-	14	1530	c.1367_1367CA>A	c.(1366-1368)cagfs	p.Q456fs	AAAS_uc001scs.4_Frame_Shift_Del_p.Q423fs	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	456					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGTGATGAGCTGGGGCTGGGC	0.577												
IKZF4	64375	broad.mit.edu	37	12	56429093	56429094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:56429092_56429093C>CG	uc001sjb.1	+	8	1894_1895	c.1735_1736C>CG	c.(1735-1737)cggfs	p.R579fs	IKZF4_uc010sqa.1_Frame_Shift_Ins_p.R532fs|IKZF4_uc001sjc.1_Frame_Shift_Ins_p.R579fs|IKZF4_uc001sjd.1_Frame_Shift_Ins_p.R477fs|IKZF4_uc009zoi.1_Frame_Shift_Ins_p.R534fs|IKZF4_uc001sje.1_Frame_Shift_Ins_p.R538fs	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554												
USP15	9958	broad.mit.edu	37	12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:62786090_62786090TA>T	uc001src.2	+	17	2418	c.2343_2343TA>T	c.(2341-2343)cctfs	p.P781fs	USP15_uc001srb.2_Frame_Shift_Del_p.P752fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	781					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATAAACCTCCTAAAAAACCCT	0.303												
RAB3IP	117177	broad.mit.edu	37	12	70206762	70206762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:70206761_70206761CT>C	uc001svp.3	+	9	1743	c.1296_1296CT>C	c.(1294-1296)aacfs	p.N432fs	RAB3IP_uc001svm.3_Frame_Shift_Del_p.N416fs|RAB3IP_uc001svn.3_Frame_Shift_Del_p.T383fs|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Frame_Shift_Del_p.T399fs|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Frame_Shift_Del_p.N210fs	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	432					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGTATGTAACTTTTTTACAT	0.348												
OAS2	4939	broad.mit.edu	37	12	113435331	113435331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:113435330_113435330GA>G	uc001tuj.3	+	3	773	c.633_633GA>G	c.(631-633)cagfs	p.Q211fs	OAS2_uc001tui.1_Frame_Shift_Del_p.Q211fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	211	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACAGTGCCAGAAAAAAATCA	0.483												
LRRC43	254050	broad.mit.edu	37	12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667												
CDX2	1045	broad.mit.edu	37	13	28537278	28537279	+	Frame_Shift_Ins	INS	-	-	C	rs142861632		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:28537277_28537278A>AC	uc001urv.3	-	2	1090_1091	c.916_917T>GT	c.(916-918)gtgfs	p.V306fs		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	306					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML							
PDS5B	23047	broad.mit.edu	37	13	33315227	33315227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:33315226_33315226GA>G	uc010abf.3	+	21	2601	c.2415_2415GA>G	c.(2413-2415)gggfs	p.G805fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	805					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCTTCCAGGGAAAAAGACAA	0.294												
TRPC4	7223	broad.mit.edu	37	13	38211583	38211583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:38211582_38211582CA>C	uc010abx.3	-	10	2642	c.2407_2407TG>G	c.(2407-2409)gatfs	p.D803fs	TRPC4_uc010abv.3_Frame_Shift_Del_p.D378fs|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Frame_Shift_Del_p.D798fs|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Frame_Shift_Del_p.D625fs|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	798	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L802L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463												
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373												
FARP1	10160	broad.mit.edu	37	13	99092237	99092237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr13:99092236_99092236TG>T	uc001vnh.3	+	22	2787	c.2548_2548TG>T	c.(2548-2550)tggfs	p.W850fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.W819fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	819	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGAAGACGAGTGGGGGGTGCC	0.617												
KIAA0391	9692	broad.mit.edu	37	14	35736064	35736064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:35736063_35736063GT>G	uc001wsy.1	+	5	1766	c.1406_1406GT>G	c.(1405-1407)tgtfs	p.C469fs	KIAA0391_uc010tps.1_Frame_Shift_Del_p.C374fs|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.C453fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Frame_Shift_Del_p.C97fs	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	469					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CAAGCCAGCTGTTTTTTTGCT	0.463												
FBXO34	55030	broad.mit.edu	37	14	55817461	55817461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:55817460_55817460GA>G	uc021rtk.1	+	0	352	c.352_352GA>G	c.(352-354)gaafs	p.E118fs	FBXO34_uc001xbv.3_5'Flank|FBXO34_uc001xbu.3_Frame_Shift_Del_p.E118fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.E118fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	118								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATACCAAGGAAAAAATTGC	0.413												
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:62242910_62242910AT>A	uc001xft.3	+	4	736	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGAC	0.358												
SYNE2	23224	broad.mit.edu	37	14	64606785	64606785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:64606784_64606784AT>A	uc001xgl.3	+	79	15199	c.14969_14969AT>A	c.(14968-14970)aatfs	p.N4990fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.N4990fs|SYNE2_uc010apy.3_Frame_Shift_Del_p.N1375fs|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4990					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACATCAACAATTTTTTTGTA	0.358												
PCNX	22990	broad.mit.edu	37	14	71570280	71570281	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:71570279_71570280A>AC	uc001xmo.2	+	31	6434_6435	c.5988_5989A>AC	c.(5986-5991)tcacccfs	p.S1996fs	PCNX_uc010are.1_Frame_Shift_Ins_p.S1885fs|PCNX_uc010arf.1_Frame_Shift_Ins_p.S784fs|PCNX_uc001xmp.2_Frame_Shift_Ins_p.S80fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1996						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTTTGTCTCACCCCTGACAAC	0.446												
SIPA1L1	26037	broad.mit.edu	37	14	72202008	72202008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:72202007_72202007AT>A	uc001xms.3	+	19	5446	c.5085_5085AT>A	c.(5083-5085)tcafs	p.S1695fs	SIPA1L1_uc001xmt.3_Frame_Shift_Del_p.S1674fs|SIPA1L1_uc001xmu.3_Frame_Shift_Del_p.S1674fs|SIPA1L1_uc001xmv.3_Frame_Shift_Del_p.S1695fs|SIPA1L1_uc010ttm.2_Frame_Shift_Del_p.S1149fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1695					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			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAGAGCCTCATTTTTTGCTG	0.488												
MLH3	27030	broad.mit.edu	37	14	75514620	75514623	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:75514619_75514622CTCTG>C	uc001xrd.1	-	1	1953_1956	c.1737_1740CAGAG>G	c.(1735-1740)acagagfs	p.T579fs	MLH3_uc001xre.1_Frame_Shift_Del_p.T579fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	579					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTCTCTTTCTCTGTCTGAGCAC	0.373								Mismatch excision repair (MMR)				
PSMC1	5700	broad.mit.edu	37	14	90726465	90726465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:90726464_90726464GA>G	uc001xyf.3	+	2	111	c.63_63GA>G	c.(61-63)aagfs	p.K21fs	PSMC1_uc001xyg.3_Intron|PSMC1_uc001xyh.3_5'UTR	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	21					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TCAAGGACAAGAAAAAGAAAT	0.373												
INF2	64423	broad.mit.edu	37	14	105174896	105174896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr14:105174895_105174895GC>G	uc001ypb.2	+	8	2001	c.1858_1858GC>G	c.(1858-1860)gccfs	p.A620fs	INF2_uc001ypc.2_Frame_Shift_Del_p.A620fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	620	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		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)		CACCATGGTGGCCCCCCGGGC	0.701											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FSIP1	161835	broad.mit.edu	37	15	40056054	40056054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40056053_40056053TA>T	uc001zki.3	-	4	746	c.528_528TA>A	c.(526-528)ttafs	p.L176fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	176										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAGTCAAAGATAAAAATTTTT	0.299												
C15orf23	90417	broad.mit.edu	37	15	40685797	40685799	+	In_Frame_Del	DEL	AAG	AAG	-	rs139286584	by1000genomes	TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:40685796_40685798TAAG>T	uc001zll.3	+	8	1064_1066	c.949_951TAAG>T	c.(949-951)taa>T	p.*317del	C15orf23_uc001zlo.3_3'UTR|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_3'UTR	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	0						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		ATTAGAAATGTAAGAAGaagcaa	0.424												
ELL3	80237	broad.mit.edu	37	15	44068067	44068069	+	In_Frame_Del	DEL	AAT	AAT	-	rs146960811		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:44068066_44068068AAAT>A	uc001zsw.1	-	3	738_740	c.335_337ATTT>T	c.(334-339)atttgg>aTgg	p.112_113IW>M	ELL3_uc001zsv.1_In_Frame_Del_p.66_67IW>M|ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	112					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		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;7.81e-07)		ATGGCTGCCCAAATAATGAGGCG	0.532											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPATA5L1	79029	broad.mit.edu	37	15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCT	0.363												
PIGB	9488	broad.mit.edu	37	15	55647053	55647053	+	Frame_Shift_Del	DEL	A	A	-	rs35751662		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:55647052_55647052GA>G	uc002act.3	+	10	1710	c.1394_1394GA>G	c.(1393-1395)ggafs	p.G465fs	PIGB_uc010ugg.2_Frame_Shift_Del_p.G270fs	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	465					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GACCTGACTGGAAAAAGTCAT	0.383												
NEO1	4756	broad.mit.edu	37	15	73541966	73541967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:73541965_73541966G>GA	uc002avm.4	+	10	1989_1990	c.1797_1798G>GA	c.(1795-1800)ttgaaafs	p.L599fs	NEO1_uc010ukx.2_Frame_Shift_Ins_p.L599fs|NEO1_uc010uky.2_Frame_Shift_Ins_p.L599fs|NEO1_uc002avn.4_Frame_Shift_Ins_p.L619fs|NEO1_uc010ukz.2_Frame_Shift_Ins_p.L23fs	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	599	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTAATGGGTTGAAAAAATATAC	0.361												
TM6SF1	53346	broad.mit.edu	37	15	83805312	83805313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:83805311_83805312C>CT	uc002bjp.3	+	9	1109_1110	c.1000_1001C>CT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_uc010bmq.3_Frame_Shift_Ins_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Ins_p.L186fs	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCAAAAATCCTTTTTTTAGCA	0.366												
KLHL25	64410	broad.mit.edu	37	15	86311755	86311755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr15:86311754_86311754AG>A	uc002bly.3	-	1	1491	c.1288_1288CT>T	c.(1288-1290)ttgfs	p.L430fs	KLHL25_uc021stw.1_Frame_Shift_Del_p.L430fs	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	430						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCATCCCGCAAGGGGGCCACC	0.592												
TMC5	79838	broad.mit.edu	37	16	19501744	19501744	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:19501743_19501743CT>C	uc002dgc.4	+	17	3349	c.2600_2600CT>C	c.(2599-2601)cctfs	p.P867fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.P815fs|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Frame_Shift_Del_p.P867fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.P621fs|TMC5_uc002dge.4_Frame_Shift_Del_p.P621fs|TMC5_uc002dgf.4_Frame_Shift_Del_p.P550fs|TMC5_uc002dgg.4_Frame_Shift_Del_p.P508fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	867						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTGTGGCCCTTTTCGAGGT	0.488												
CX3CL1	6376	broad.mit.edu	37	16	57416257	57416258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:57416256_57416257T>TC	uc002eli.3	+	2	573_574	c.506_507T>TC	c.(505-507)ctcfs	p.L169fs		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	169	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGACCAGGCTCCCCCCGACGC	0.673												
CDH8	1006	broad.mit.edu	37	16	61935244	61935244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:61935243_61935243CT>C	uc002eog.2	-	2	1342	c.387_387AG>G	c.(385-387)aagfs	p.K129fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	129	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E128*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		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)		TATACTCAGCCTTTTCCTCCC	0.408												
WWP2	11060	broad.mit.edu	37	16	69959368	69959368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:69959367_69959367GC>G	uc002exu.1	+	11	1303	c.1214_1214GC>G	c.(1213-1215)ggcfs	p.G405fs	WWP2_uc002exv.1_Frame_Shift_Del_p.G405fs|WWP2_uc010vlm.1_Frame_Shift_Del_p.G289fs|WWP2_uc010vln.1_Frame_Shift_Del_p.G23fs|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	405	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCCCCTGGGCCCCCTCCCT	0.532												
ZFHX3	463	broad.mit.edu	37	16	72991949	72991949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr16:72991948_72991948GC>G	uc002fck.3	-	1	2770	c.2097_2097GC>C	c.(2095-2097)ggcfs	p.G699fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	699					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	p.G699fs*125(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGACACAGGAGCCCCCCGGCT	0.597												
GPS2	2874	broad.mit.edu	37	17	7221879	7221879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7221878_7221878AC>A	uc002gga.1	-	22	3807	c.3800_3800GT>T	c.(3799-3801)gtafs	p.V1267fs	GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Frame_Shift_Del_p.V1265fs	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGGCACAGCTACCCCCTGGTC	0.642												
KDM6B	23135	broad.mit.edu	37	17	7755641	7755641	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7755640_7755640TG>T	uc002gix.3	+	8	3197	c.2360_2360TG>T	c.(2359-2361)gtgfs	p.V787fs	KDM6B_uc002giw.1_Frame_Shift_Del_p.V1485fs|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1485	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCTGGAACGTGGGGCCCCTC	0.672											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CNTROB	116840	broad.mit.edu	37	17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.550												
DNAH9	1770	broad.mit.edu	37	17	11837319	11837321	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:11837318_11837320TAGA>T	uc002gne.3	+	64	12487_12489	c.12419_12421TAGA>T	c.(12418-12423)ttagaa>tTaa	p.E4141del	DNAH9_uc010coo.3_In_Frame_Del_p.E3359del|DNAH9_uc002gnf.3_In_Frame_Del_p.E453del	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4141					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)		CCAGAAATGTTAGAAGGAGAACT	0.493												
CRYBA1	1411	broad.mit.edu	37	17	27581284	27581286	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:27581283_27581285TGGA>T	uc002hdw.3	+	5	571_573	c.564_566TGGA>T	c.(562-567)catgga>caTa	p.G190del		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	190	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTGACCATCATGGAGGAGACTAT	0.419												
SLFN12	55106	broad.mit.edu	37	17	33749493	33749494	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:33749492_33749493C>CA	uc002hji.4	-	1	932_933	c.555_556G>TG	c.(553-558)tttgatfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Ins_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Ins_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366												
TTLL6	284076	broad.mit.edu	37	17	46863659	46863659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:46863658_46863658CT>C	uc021tzm.1	-	11	1664	c.1629_1629AG>G	c.(1627-1629)aagfs	p.K543fs	TTLL6_uc002iob.3_Frame_Shift_Del_p.K236fs|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Frame_Shift_Del_p.K296fs|TTLL6_uc002iod.3_Frame_Shift_Del_p.K390fs	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	495						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTGGAAGGGCTTTTTCTCCC	0.517												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
ABCA9	10350	broad.mit.edu	37	17	67031442	67031443	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr17:67031441_67031442C>CA	uc002jhu.3	-	7	1216_1217	c.1073_1074G>TG	c.(1072-1074)ttgfs	p.L358fs	ABCA9_uc010dez.3_Frame_Shift_Ins_p.L358fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	358					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAGTCCATTCCAAAAATGCAGG	0.436												
DCC	1630	broad.mit.edu	37	18	50976892	50976893	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:50976891_50976892A>AC	uc002lfe.2	+	22	3867_3868	c.3251_3252A>AC	c.(3250-3252)cacfs	p.H1084fs	DCC_uc010dpf.2_Frame_Shift_Ins_p.H719fs	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1084					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGACAAATGCACCCCCCGCATG	0.495												
CTDP1	9150	broad.mit.edu	37	18	77470348	77470348	+	Splice_Site	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:77470347_77470347CT>C	uc002lnh.2	+	6	920	c.773_splice	c.e6-1	p.G258_splice	CTDP1_uc002lni.2_Splice_Site_p.G258_splice|CTDP1_uc010drd.2_Splice_Site_p.G258_splice|CTDP1_uc021ult.1_Splice_Site_p.G139_splice	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	258	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCCAAGGCTTTTTAGACC	0.403												
ADNP2	22850	broad.mit.edu	37	18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				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	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		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)		CCTCACTCATTCCCCCCCTGC	0.642												
BSG	682	broad.mit.edu	37	19	579603	579603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:579602_579602AG>A	uc002loz.3	+	2	616	c.518_518AG>A	c.(517-519)aagfs	p.K173fs	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Frame_Shift_Del_p.K57fs|BSG_uc002lpc.3_Frame_Shift_Del_p.K220fs	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	173	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGGCTGAAGGGGGGCGTG	0.622												
ZNF177	7730	broad.mit.edu	37	19	9490791	9490791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:9490790_9490790GA>G	uc021uon.1	+	4	472	c.311_311GA>G	c.(310-312)ggafs	p.G104fs	ZNF177_uc002mli.3_Frame_Shift_Del_p.G104fs|ZNF177_uc002mlj.3_Frame_Shift_Del_p.G104fs|ZNF177_uc002mlk.3_Frame_Shift_Del_p.G104fs	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	104					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						ATTCCTGGGGGAAAAACATCC	0.373												
FOXA3	3171	broad.mit.edu	37	19	46375420	46375420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr19:46375419_46375419TG>T	uc002pdr.3	+	1	353	c.156_156TG>T	c.(154-156)cctfs	p.P52fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	52				Missing (in Ref. 1; AAA58477).	brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTATCCCCCTGGGGGGCTCC	0.672												
PLCB1	23236	broad.mit.edu	37	20	8745986	8745986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:8745985_8745985CA>C	uc002wnb.3	+	25	2913	c.2910_2910CA>C	c.(2908-2910)gccfs	p.A970fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.A869fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.A970fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.A869fs|PLCB1_uc002wnd.1_Frame_Shift_Del_p.A547fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	970					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|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 JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGTCCGCCAAAAAGGACA	0.328												
ZMYND8	23613	broad.mit.edu	37	20	45874790	45874790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr20:45874789_45874789AT>A	uc010zxy.1	-	13	2350	c.2268_2268AT>T	c.(2266-2268)aatfs	p.N756fs	ZMYND8_uc010ghq.1_Frame_Shift_Del_p.N406fs|ZMYND8_uc010ghr.1_Frame_Shift_Del_p.N704fs|ZMYND8_uc002xst.1_Frame_Shift_Del_p.N657fs|ZMYND8_uc002xsu.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xsv.1_Frame_Shift_Del_p.N657fs|ZMYND8_uc002xsw.1_Frame_Shift_Del_p.N481fs|ZMYND8_uc002xsx.1_Frame_Shift_Del_p.N481fs|ZMYND8_uc002xsy.1_Frame_Shift_Del_p.N704fs|ZMYND8_uc002xsz.1_Frame_Shift_Del_p.N666fs|ZMYND8_uc002xta.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xtb.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xss.2_Frame_Shift_Del_p.N729fs|ZMYND8_uc010zxz.1_Frame_Shift_Del_p.N724fs|ZMYND8_uc002xtc.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xtd.1_Frame_Shift_Del_p.N724fs|ZMYND8_uc002xte.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc010zya.1_Frame_Shift_Del_p.N729fs|ZMYND8_uc002xtf.1_Frame_Shift_Del_p.N749fs|ZMYND8_uc002xtg.3_Frame_Shift_Del_p.N723fs|ZMYND8_uc010ghs.2_Frame_Shift_Del_p.N723fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	729							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTTCCTTCTTATTTTTTCGAC	0.438												
N6AMT1	29104	broad.mit.edu	37	21	30250584	30250584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:30250583_30250583GA>G	uc002ymo.1	-	4	495	c.469_469TC>C	c.(469-471)cccfs	p.P157fs	N6AMT1_uc002ymp.1_Frame_Shift_Del_p.P129fs|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	157					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGAACCAGGGGAAAAAACCTG	0.393												
KRTAP13-3	337960	broad.mit.edu	37	21	31797925	31797925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:31797924_31797924CA>C	uc002yob.1	-	0	307	c.307_307TG>G	c.(307-309)ggafs	p.G103fs		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	103						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CTATTGGATCCAAAACCCCGA	0.527												
DYRK1A	1859	broad.mit.edu	37	21	38853059	38853060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr21:38853058_38853059T>TA	uc002ywk.3	+	3	522_523	c.446_447T>TA	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Ins_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Ins_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Ins_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Ins_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGAG	0.376												
CECR2	27443	broad.mit.edu	37	22	18020337	18020337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:18020336_18020336GC>G	uc010gqw.1	+	12	1659	c.1659_1659GC>G	c.(1657-1659)ttgfs	p.L553fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.L414fs|CECR2_uc002zml.2_Frame_Shift_Del_p.L414fs	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	597					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAAAGTCGTTGCCCCCCACAC	0.642												
MMP11	4320	broad.mit.edu	37	22	24123446	24123446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:24123445_24123445CT>C	uc002zxx.3	+	5	946	c.924_924CT>C	c.(922-924)ctcfs	p.L308fs	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	308	Hemopexin-like 1.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GAGGCGAGCTCTTTTTCTTCA	0.662												
KDELR3	11015	broad.mit.edu	37	22	38877444	38877446	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chr22:38877443_38877445ACTT>A	uc003avu.3	+	3	734_736	c.578_580ACTT>A	c.(577-582)gacttc>gAtc	p.F195del	KDELR3_uc003avv.3_In_Frame_Del_p.F195del	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	195					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	p.F194V(2)|p.F194Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TTCTACTGTGACTTCTTCTACTT	0.448												
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				CCTGGTCGGTGTTTTTTTGTC	0.562												
NUDT11	55190	broad.mit.edu	37	X	51239075	51239076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:51239074_51239075T>TC	uc010njt.3	-	0	385_386	c.222_223A>GA	c.(220-225)gggaagfs	p.G74fs		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	74	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGGCCTAACTTCCCCTTGACTC	0.644										HNSCC(48;0.14)		
OGT	8473	broad.mit.edu	37	X	70782825	70782825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:70782824_70782824CT>C	uc004eaa.2	+	15	2343	c.2105_2105CT>C	c.(2104-2106)actfs	p.T702fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Frame_Shift_Del_p.T692fs|OGT_uc004eac.3_Frame_Shift_Del_p.T563fs|OGT_uc004ead.3_Frame_Shift_Del_p.T321fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	702					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGCCCCACACTTTTTTTATT	0.398												
RNF128	79589	broad.mit.edu	37	X	106016301	106016301	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:106016300_106016300CT>C	uc004eml.3	+	1	892	c.642_642CT>C	c.(640-642)tccfs	p.S214fs	RNF128_uc004emk.3_Frame_Shift_Del_p.S188fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	214				S -> P (in Ref. 1; AAK77554).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTCTGTGTCCTTTTTTATTA	0.393												
AGTR2	186	broad.mit.edu	37	X	115303748	115303748	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:115303747_115303747CA>C	uc022cdd.1	+	0	214	c.214_214CA>C	c.(214-216)caafs	p.Q72fs	AGTR2_uc004eqh.4_Frame_Shift_Del_p.Q72fs	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	72					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GTTTTGTTGTCAAAAGGGTCC	0.363												
IGSF1	3547	broad.mit.edu	37	X	130411114	130411114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:130411113_130411113TG>T	uc004ewe.4	-	13	2706	c.2423_2423CA>A	c.(2422-2424)cacfs	p.H808fs	IGSF1_uc004ewd.3_Frame_Shift_Del_p.H803fs|IGSF1_uc022cdv.1_Frame_Shift_Del_p.H794fs|IGSF1_uc004ewf.2_Frame_Shift_Del_p.H783fs	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	803	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGA	0.512												
FGF13	2258	broad.mit.edu	37	X	137939823	137939824	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:137939822_137939823A>AG	uc004faq.3	-	1	244_245	c.68_69T>CT	c.(67-69)cctfs	p.P23fs	FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Ins_p.P23fs|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431												
DNASE1L1	1774	broad.mit.edu	37	X	153631310	153631311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B7-5816-01A-21D-1600-08	TCGA-B7-5816-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7	a2c1f792-39dd-4c35-8868-4be46623e3f0	g.chrX:153631309_153631310T>TG	uc004fks.1	-	6	938_939	c.747_748A>CA	c.(745-750)cccacgfs	p.P249fs	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fku.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fkv.1_Frame_Shift_Ins_p.P249fs|DNASE1L1_uc004fkw.1_Frame_Shift_Ins_p.P249fs	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	249					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGAAGCTCGTGGGGAAGTCAA	0.683